{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,12]],"date-time":"2026-08-12T04:31:54Z","timestamp":1786509114897,"version":"build-2736575974"},"reference-count":583,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2026,8,10]],"date-time":"2026-08-10T00:00:00Z","timestamp":1786320000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"South Carolina IDEA Network for Research Excellence","award":["NIH 5P20GM103499"],"award-info":[{"award-number":["NIH 5P20GM103499"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. Dev. Biol.","JDB"],"abstract":"<jats:p>Both genetics and the environment affect the phenotypes of polycystic kidney diseases (PKD), such as autosomal dominant (AD) PKD, autosomal recessive (AR) PKD and nephronophthisis (NPH). Variable phenotypes, pleiotropy, divergent severity and progression, even in family members who inherited the same disease-causing mutation(s), signal the involvement of networked genes and modifiers. Several PKD-linked genes function in development and renal tubule morphogenesis. Cystic renal tissues feature metabolic remodeling, functional reprogramming and dysregulation of several shared factors and pathways. ADPKD, ARPKD and NPH partially phenocopy each other. Understanding the developmental arc of cystic kidney disease and its complex phenotypes would improve diagnostics and help develop effective personalized treatments. However, this is challenging to study in vertebrate systems due to genetic redundancy, functional overlap, and a dearth of genetic tools. Underused in this context, Drosophila melanogaster offers high genomic and pathway conservation, a wealth of genetic tools, and rapid generation times, making it a reliable and sustainable model for mechanistic, genome-wide, and precision medicine studies. Here, we surveyed ADPKD, ARPKD, and NPH, compared renal and extrarenal phenotypes, and examined the network of shared and unique contributors, their healthy and diseased functions and conservation from the perspective of mechanistic whole-animal modeling.<\/jats:p>","DOI":"10.3390\/jdb14030036","type":"journal-article","created":{"date-parts":[[2026,8,10]],"date-time":"2026-08-10T15:10:24Z","timestamp":1786374624000},"page":"36","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Modeling Complex Developmental Disease: The Case of Polycystic Kidney Disease"],"prefix":"10.3390","volume":"14","author":[{"given":"Jay","family":"DeLoriea","sequence":"first","affiliation":[{"name":"Biology Department, Coastal Carolina University, Conway, SC 29526, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-4076-7646","authenticated-orcid":false,"given":"Cody","family":"Casey","sequence":"additional","affiliation":[{"name":"Biology Department, Coastal Carolina University, Conway, SC 29526, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lexee","family":"Shearer","sequence":"additional","affiliation":[{"name":"Biology Department, Coastal Carolina University, Conway, SC 29526, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria","family":"Chen","sequence":"additional","affiliation":[{"name":"Biology Department, Coastal Carolina University, Conway, SC 29526, USA"},{"name":"Carolina Forest High School, Myrtle Beach, SC 29579, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelica","family":"Bryant","sequence":"additional","affiliation":[{"name":"Biology Department, Coastal Carolina University, Conway, SC 29526, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7122-6491","authenticated-orcid":false,"given":"Chiara","family":"Gamberi","sequence":"additional","affiliation":[{"name":"Biology Department, Coastal Carolina University, Conway, SC 29526, USA"},{"name":"Disease Modeling Research Collaborative, Coastal Carolina University, Conway, SC 29526, USA"},{"name":"Hetzer Center for Biomedical Sciences, Coastal Carolina University, Conway, SC 29526, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,8,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1146\/annurev.med.60.101707.125712","article-title":"Polycystic Kidney Disease","volume":"60","author":"Harris","year":"2009","journal-title":"Annu. Rev. Med."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1038\/s41572-018-0047-y","article-title":"Polycystic Kidney Disease","volume":"4","author":"Bergmann","year":"2018","journal-title":"Nat. Rev. Dis. Primers"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1289","DOI":"10.1016\/S0140-6736(26)00046-2","article-title":"Autosomal Dominant Polycystic Kidney Disease","volume":"407","author":"Ong","year":"2026","journal-title":"Lancet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1484","DOI":"10.1016\/j.ajhg.2022.06.013","article-title":"Monoallelic Pathogenic ALG5 Variants Cause Atypical Polycystic Kidney Disease and Interstitial Fibrosis","volume":"109","author":"Lemoine","year":"2022","journal-title":"Am. J. Hum. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"ii17","DOI":"10.1093\/ckj\/sfaf331","article-title":"Genetic Testing in Autosomal Dominant Polycystic Kidney Disease: Why It Matters in 2025","volume":"18","author":"Ong","year":"2025","journal-title":"Clin. Kidney J."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1086\/340448","article-title":"PKHD1, the Polycystic Kidney and Hepatic Disease 1 Gene, Encodes a Novel Large Protein Containing Multiple Immunoglobulin-like Plexin-Transcription-Factor Domains and Parallel Beta-Helix 1 Repeats","volume":"70","author":"Onuchic","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1097\/01.ASN.0000039578.55705.6E","article-title":"Spectrum of Mutations in the Gene for Autosomal Recessive Polycystic Kidney Disease (ARPKD\/PKHD1)","volume":"14","author":"Bergmann","year":"2003","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1002\/humu.20019","article-title":"PKHD1 Mutations in Families Requesting Prenatal Diagnosis for Autosomal Recessive Polycystic Kidney Disease (ARPKD)","volume":"23","author":"Bergmann","year":"2004","journal-title":"Hum. Mutat."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1002\/humu.20029","article-title":"PKHD1 Mutations in Autosomal Recessive Polycystic Kidney Disease (ARPKD)","volume":"23","author":"Bergmann","year":"2004","journal-title":"Hum. Mutat."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1016\/j.kint.2023.05.007","article-title":"The Genetic Landscape and Clinical Spectrum of Nephronophthisis and Related Ciliopathies","volume":"104","author":"Petzold","year":"2023","journal-title":"Kidney Int."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1053\/j.ackd.2009.12.004","article-title":"Determinants of Renal Disease Variability in ADPKD","volume":"17","author":"Harris","year":"2010","journal-title":"Adv. Chronic Kidney Dis."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1681\/ASN.2017050483","article-title":"Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases","volume":"29","author":"Torres","year":"2018","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"37","DOI":"10.2174\/1573402111309010007","article-title":"The Genetics of Vascular Complications in Autosomal Dominant Polycystic Kidney Disease (ADPKD)","volume":"9","author":"Rossetti","year":"2013","journal-title":"Curr. Hypertens. Rev."},{"key":"ref_14","unstructured":"(2026, June 24). Kidney Disease-NIDDK, Available online: https:\/\/www.niddk.nih.gov\/health-information\/kidney-disease."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"2593","DOI":"10.1681\/ASN.2018050493","article-title":"Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing","volume":"29","author":"Lanktree","year":"2018","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1356","DOI":"10.1093\/ndt\/gfw240","article-title":"Prevalence of Autosomal Dominant Polycystic Kidney Disease in the European Union","volume":"32","author":"Willey","year":"2017","journal-title":"Nephrol. Dial. Transpl."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1159\/000494923","article-title":"Analysis of Nationwide Data to Determine the Incidence and Diagnosed Prevalence of Autosomal Dominant Polycystic Kidney Disease in the USA: 2013\u20132015","volume":"5","author":"Willey","year":"2019","journal-title":"Kidney Dis."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1093\/ndt\/gfaf158","article-title":"Typical and Atypical ADPKD: Predicted Pathogenic Genetic Variants and Population Frequencies","volume":"41","author":"Varughese","year":"2026","journal-title":"Nephrol. Dial. Transpl."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1038\/nrneph.2011.109","article-title":"Why Kidneys Fail in Autosomal Dominant Polycystic Kidney Disease","volume":"7","author":"Grantham","year":"2011","journal-title":"Nat. Rev. Nephrol."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1863","DOI":"10.1681\/ASN.V3121863","article-title":"Characteristics of Very Early Onset Autosomal Dominant Polycystic Kidney Disease","volume":"3","author":"Fick","year":"1993","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1136\/jmg.30.7.583","article-title":"Childhood Onset Autosomal Dominant Polycystic Kidney Disease in Sibs: Clinical Picture and Recurrence Risk. German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft F\u00fcr P\u00e4diatrische Nephrologie","volume":"30","author":"Zerres","year":"1993","journal-title":"J. Med. Genet."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1681\/ASN.2014101051","article-title":"Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease","volume":"27","author":"Corbiere","year":"2016","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_23","doi-asserted-by":"crossref","unstructured":"Reiterov\u00e1, J., and Tesa\u0159, V. (2022). Autosomal Dominant Polycystic Kidney Disease: From Pathophysiology of Cystogenesis to Advances in the Treatment. Int. J. Mol. Sci., 23.","DOI":"10.3390\/ijms23063317"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"iv15","DOI":"10.1093\/ndt\/gfu017","article-title":"Renal Replacement Therapy for Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Europe: Prevalence and Survival\u2013An Analysis of Data from the ERA-EDTA Registry","volume":"29","author":"Spithoven","year":"2014","journal-title":"Nephrol. Dial. Transpl."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1681\/ASN.2008050507","article-title":"Unified Criteria for Ultrasonographic Diagnosis of ADPKD","volume":"20","author":"Pei","year":"2009","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_26","unstructured":"Adam, M.P., Bick, S., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., and Amemiya, A. (1993). Polycystic Kidney Disease, Autosomal Dominant. GeneReviews\u00ae, University of Washington, Seattle."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"2122","DOI":"10.1056\/NEJMoa054341","article-title":"Volume Progression in Polycystic Kidney Disease","volume":"354","author":"Grantham","year":"2006","journal-title":"N. Engl. J. Med."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1006","DOI":"10.1681\/ASN.2012070650","article-title":"Type of PKD1 Mutation Influences Renal Outcome in ADPKD","volume":"24","author":"Chen","year":"2013","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"1561","DOI":"10.1111\/j.1523-1755.2004.00921.x","article-title":"Pain Patterns in Patients with Polycystic Kidney Disease","volume":"66","author":"Bajwa","year":"2004","journal-title":"Kidney Int."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1016\/S0140-6736(07)60601-1","article-title":"Autosomal Dominant Polycystic Kidney Disease","volume":"369","author":"Torres","year":"2007","journal-title":"Lancet"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.1038\/ki.2012.225","article-title":"Autosomal Dominant Polycystic Kidney Disease Is Associated with Central and Nephrogenic Defects in Osmoregulation","volume":"82","author":"Ho","year":"2012","journal-title":"Kidney Int."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1016\/S0272-6386(12)80541-5","article-title":"Clinical Profiles of Gross Hematuria in Autosomal Dominant Polycystic Kidney Disease","volume":"20","author":"Gabow","year":"1992","journal-title":"Am. J. Kidney Dis."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"1477","DOI":"10.1056\/NEJMcp0804458","article-title":"Clinical Practice. Autosomal Dominant Polycystic Kidney Disease","volume":"359","author":"Grantham","year":"2008","journal-title":"N. Engl. J. Med."},{"key":"ref_34","unstructured":"(2026, June 24). Autosomal Dominant Polycystic Kidney Disease (ADPKD): Kidney Manifestations-UpToDate. Available online: https:\/\/www.uptodate.com\/contents\/1680#H9."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1016\/S0272-6386(12)80921-8","article-title":"Introduction: Autosomal Dominant Polycystic Kidney Disease","volume":"22","author":"Gabow","year":"1993","journal-title":"Am. J. Kidney Dis."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1016\/S0022-5347(05)67792-0","article-title":"Nephrolithiasis Associated with Autosomal Dominant Polycystic Kidney Disease: Contemporary Urological Management","volume":"163","author":"Ng","year":"2000","journal-title":"J. Urol."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1016\/S0272-6386(12)80922-X","article-title":"Renal Stone Disease in Autosomal Dominant Polycystic Kidney Disease","volume":"22","author":"Torres","year":"1993","journal-title":"Am. J. Kidney Dis."},{"key":"ref_38","unstructured":"Mahboob, M., Rout, P., and Bokhari, S.R.A. (2026). Autosomal Dominant Polycystic Kidney Disease. StatPearls, StatPearls Publishing."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"1349","DOI":"10.1681\/ASN.V561349","article-title":"Overt Proteinuria and Microalbuminuria in Autosomal Dominant Polycystic Kidney Disease","volume":"5","author":"Chapman","year":"1994","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"1183","DOI":"10.2215\/CJN.01870309","article-title":"Cyst Infections in Patients with Autosomal Dominant Polycystic Kidney Disease","volume":"4","author":"Rafat","year":"2009","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"3479","DOI":"10.1111\/ajt.13862","article-title":"Risk of Renal Cell Carcinoma Among Kidney Transplant Recipients in the United States","volume":"16","author":"Karami","year":"2016","journal-title":"Am. J. Transpl."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1159\/000343281","article-title":"Prevalence of Cardiovascular Events in Patients with Autosomal Dominant Polycystic Kidney Disease","volume":"36","author":"Helal","year":"2012","journal-title":"Am. J. Nephrol."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"1054","DOI":"10.1016\/j.transproceed.2007.02.007","article-title":"The Outcome of Diverticulosis in Kidney Recipients with Polycystic Kidney Disease","volume":"39","author":"Pourfarziani","year":"2007","journal-title":"Transpl. Proc."},{"key":"ref_44","doi-asserted-by":"crossref","unstructured":"Lucchetti, L., Chinali, M., Emma, F., and Massella, L. (2023). Autosomal Dominant and Autosomal Recessive Polycystic Kidney Disease: Hypertension and Secondary Cardiovascular Effect in Children. Front. Mol. Biosci., 10.","DOI":"10.3389\/fmolb.2023.1112727"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1038\/nrneph.2009.13","article-title":"Cardiovascular Abnormalities in Autosomal-Dominant Polycystic Kidney Disease","volume":"5","author":"Ecder","year":"2009","journal-title":"Nat. Rev. Nephrol."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"874","DOI":"10.2215\/CJN.11401017","article-title":"Prevalence of Hypertension in Children with Early-Stage ADPKD","volume":"13","author":"Massella","year":"2018","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1097\/MPG.0b013e31824711b7","article-title":"Congenital Hepatic Fibrosis and Autosomal Recessive Polycystic Kidney Disease","volume":"54","author":"Srinath","year":"2012","journal-title":"J. Pediatr. Gastroenterol. Nutr."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"64","DOI":"10.2215\/CJN.00080605","article-title":"Magnetic Resonance Imaging Evaluation of Hepatic Cysts in Early Autosomal-Dominant Polycystic Kidney Disease: The Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease Cohort","volume":"1","author":"Bae","year":"2006","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1093\/ndt\/gfw008","article-title":"Effect of Genotype on the Severity and Volume Progression of Polycystic Liver Disease in Autosomal Dominant Polycystic Kidney Disease","volume":"31","author":"Chebib","year":"2016","journal-title":"Nephrol. Dial. Transpl."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"2825","DOI":"10.1093\/ndt\/13.11.2825","article-title":"The Prevalence of Seminal Vesicle Cysts in Autosomal Dominant Polycystic Kidney Disease","volume":"13","author":"Danaci","year":"1998","journal-title":"Nephrol. Dial. Transpl."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1093\/ndt\/gft437","article-title":"Extra-Renal Manifestations of Autosomal Dominant Polycystic Kidney Disease (ADPKD): Considerations for Routine Screening and Management","volume":"29","author":"Luciano","year":"2014","journal-title":"Nephrol. Dial. Transpl."},{"key":"ref_52","first-page":"615","article-title":"Abdominal Wall Hernia in Autosomal Dominant Polycystic Kidney Disease","volume":"84","author":"Coles","year":"1997","journal-title":"Br. J. Surg."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1007\/978-981-10-2041-4_2","article-title":"Genetic Mechanisms of ADPKD","volume":"933","author":"Kim","year":"2016","journal-title":"Adv. Exp. Med. Biol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"429","DOI":"10.5001\/omj.2018.78","article-title":"Autosomal Dominant Polycystic Kidney Disease and Pericardial Effusion","volume":"33","author":"Fernandez","year":"2018","journal-title":"Oman Med. J."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"790","DOI":"10.2215\/CJN.05311107","article-title":"Prevalence of Cysts in Seminal Tract and Abnormal Semen Parameters in Patients with Autosomal Dominant Polycystic Kidney Disease","volume":"3","author":"Torra","year":"2008","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1681\/ASN.V131269","article-title":"Management of Cerebral Aneurysms in Autosomal Dominant Polycystic Kidney Disease","volume":"13","author":"Pirson","year":"2002","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"1145","DOI":"10.1038\/ki.1987.121","article-title":"Cyst Formation and Growth in Autosomal Dominant Polycystic Kidney Disease","volume":"31","author":"Grantham","year":"1987","journal-title":"Kidney Int."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1053\/jhep.2003.50006","article-title":"Clinical Profile of Autosomal Dominant Polycystic Liver Disease","volume":"37","author":"Qian","year":"2003","journal-title":"Hepatology"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"1181","DOI":"10.1378\/chest.07-2147","article-title":"Autosomal Dominant Polycystic Kidney Disease Is Associated with an Increased Prevalence of Radiographic Bronchiectasis","volume":"133","author":"Driscoll","year":"2008","journal-title":"Chest"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1038\/nrneph.2015.128","article-title":"Vascular Complications in Autosomal Dominant Polycystic Kidney Disease","volume":"11","author":"Perrone","year":"2015","journal-title":"Nat. Rev. Nephrol."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1016\/j.clinimag.2014.10.016","article-title":"Seminal Megavesicle in Autosomal Dominant Polycystic Kidney Disease","volume":"39","author":"Reig","year":"2015","journal-title":"Clin. Imaging"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"57594","DOI":"10.18632\/oncotarget.16338","article-title":"Risk of Aortic Aneurysm and Dissection in Patients with Autosomal-Dominant Polycystic Kidney Disease: A Nationwide Population-Based Cohort Study","volume":"8","author":"Sung","year":"2017","journal-title":"Oncotarget"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1097\/MPA.0000000000001306","article-title":"Pancreatic Cysts and Intraductal Papillary Mucinous Neoplasm in Autosomal Dominant Polycystic Kidney Disease","volume":"48","author":"McNicholas","year":"2019","journal-title":"Pancreas"},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1016\/j.kint.2024.07.010","article-title":"KDIGO 2025 Clinical Practice Guideline for the Evaluation, Management, and Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD): Executive Summary","volume":"107","author":"Torres","year":"2025","journal-title":"Kidney Int."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1186\/s40246-016-0095-x","article-title":"Transcriptome Analysis Reveals Manifold Mechanisms of Cyst Development in ADPKD","volume":"10","author":"Clendenon","year":"2016","journal-title":"Hum. Genom."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1007\/978-3-319-51436-9_12","article-title":"Inflammation and Fibrosis in Polycystic Kidney Disease","volume":"60","author":"Song","year":"2017","journal-title":"Results Probl. Cell Differ."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"1374","DOI":"10.1681\/ASN.2007010125","article-title":"Genotype-Phenotype Correlations in Autosomal Dominant and Autosomal Recessive Polycystic Kidney Disease","volume":"18","author":"Rossetti","year":"2007","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_68","unstructured":"(2026, June 24). ADPKD Variant Database. Available online: https:\/\/pkdb.mayo.edu\/variants."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1016\/S0092-8674(00)81793-6","article-title":"The Molecular Basis of Focal Cyst Formation in Human Autosomal Dominant Polycystic Kidney Disease Type I","volume":"87","author":"Qian","year":"1996","journal-title":"Cell"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"1524","DOI":"10.1681\/ASN.V1071524","article-title":"Somatic PKD2 Mutations in Individual Kidney and Liver Cysts Support a \u201cTwo-Hit\u201d Model of Cystogenesis in Type 2 Autosomal Dominant Polycystic Kidney Disease","volume":"10","author":"Pei","year":"1999","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1038\/75981","article-title":"Mutations of PKD1 in ADPKD2 Cysts Suggest a Pathogenic Effect of Trans-Heterozygous Mutations","volume":"25","author":"Watnick","year":"2000","journal-title":"Nat. Genet."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"4257","DOI":"10.1172\/JCI64313","article-title":"Functional Polycystin-1 Dosage Governs Autosomal Dominant Polycystic Kidney Disease Severity","volume":"122","author":"Hopp","year":"2012","journal-title":"J. Clin. Investig."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"2315","DOI":"10.1172\/JCI72272","article-title":"Genetic Mechanisms and Signaling Pathways in Autosomal Dominant Polycystic Kidney Disease","volume":"124","author":"Harris","year":"2014","journal-title":"J. Clin. Investig."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1038\/ki.2015.207","article-title":"A Polycystin-Centric View of Cyst Formation and Disease: The Polycystins Revisited","volume":"88","author":"Ong","year":"2015","journal-title":"Kidney Int."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"848","DOI":"10.1038\/ki.2008.686","article-title":"Incompletely Penetrant PKD1 Alleles Suggest a Role for Gene Dosage in Cyst Initiation in Polycystic Kidney Disease","volume":"75","author":"Rossetti","year":"2009","journal-title":"Kidney Int."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"2047","DOI":"10.1681\/ASN.2010101080","article-title":"Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease","volume":"22","author":"Bergmann","year":"2011","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"1193","DOI":"10.1016\/j.ajhg.2016.05.004","article-title":"Mutations in GANAB, Encoding the Glucosidase II\u03b1 Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease","volume":"98","author":"Porath","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"ref_78","unstructured":"Adam, M.P., Bick, S., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., and Amemiya, A. (1993). Oral-Facial-Digital Syndrome Type I. GeneReviews\u00ae, University of Washington, Seattle."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1007\/s00467-012-2259-9","article-title":"Current Insights into Renal Ciliopathies: What Can Genetics Teach Us?","volume":"28","author":"Arts","year":"2013","journal-title":"Pediatr. Nephrol."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.gde.2019.07.005","article-title":"Renal Ciliopathies","volume":"56","author":"Devlin","year":"2019","journal-title":"Curr. Opin. Genet. Dev."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1007\/s40620-022-01481-z","article-title":"Polycystic Kidney Disease Associated with Intracranial Hypertension Revealing a Mutation of the OFD1 Gene","volume":"36","author":"Schultz","year":"2023","journal-title":"J. Nephrol."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"331","DOI":"10.12998\/wjcc.v8.i2.331","article-title":"OFD1 Mutation Induced Renal Failure and Polycystic Kidney Disease in a Pair of Childhood Male Twins in China","volume":"8","author":"Zhang","year":"2020","journal-title":"World J. Clin. Cases"},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1159\/000547878","article-title":"Novel OFD1 Mutation Results in Unusually Early-Onset Polycystic Kidney Disease","volume":"15","author":"Jones","year":"2025","journal-title":"Case Rep. Nephrol. Dial."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1038\/s41581-019-0116-9","article-title":"Cellular Signalling by Primary Cilia in Development, Organ Function and Disease","volume":"15","author":"Anvarian","year":"2019","journal-title":"Nat. Rev. Nephrol."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1159\/000493532","article-title":"Early and Severe Polycystic Kidney Disease and Related Ciliopathies: An Emerging Field of Interest","volume":"141","author":"Bergmann","year":"2019","journal-title":"Nephron"},{"key":"ref_86","doi-asserted-by":"crossref","unstructured":"Santoni, M., Piva, F., Cimadamore, A., Giulietti, M., Battelli, N., Montironi, R., Cosmai, L., and Porta, C. (2020). Exploring the Spectrum of Kidney Ciliopathies. Diagnostics, 10.","DOI":"10.3390\/diagnostics10121099"},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1053\/j.ajkd.2020.08.012","article-title":"Ciliopathies and the Kidney: A Review","volume":"77","author":"McConnachie","year":"2021","journal-title":"Am. J. Kidney Dis."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1016\/bs.ctdb.2025.01.009","article-title":"Renal Ciliopathies","volume":"163","author":"Devlin","year":"2025","journal-title":"Curr. Top. Dev. Biol."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1038\/nrm2278","article-title":"When Cilia Go Bad: Cilia Defects and Ciliopathies","volume":"8","author":"Fliegauf","year":"2007","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1242\/jcs.3.2.207","article-title":"Reconstructions of Centriole Formation and Ciliogenesis in Mammalian Lungs","volume":"3","author":"Sorokin","year":"1968","journal-title":"J. Cell Sci."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1126\/science.1124534","article-title":"The Primary Cilium as the Cell\u2019s Antenna: Signaling at a Sensory Organelle","volume":"313","author":"Singla","year":"2006","journal-title":"Science"},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1038\/nrm.2017.60","article-title":"Genes and Molecular Pathways Underpinning Ciliopathies","volume":"18","author":"Reiter","year":"2017","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"e113891","DOI":"10.15252\/embj.2023113891","article-title":"Emerging Principles of Primary Cilia Dynamics in Controlling Tissue Organization and Function","volume":"42","author":"Gopalakrishnan","year":"2023","journal-title":"EMBO J."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1038\/nature02061","article-title":"Hedgehog Signalling in the Mouse Requires Intraflagellar Transport Proteins","volume":"426","author":"Huangfu","year":"2003","journal-title":"Nature"},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1016\/j.ceb.2016.02.008","article-title":"The Primary Cilium as a Cellular Receiver: Organizing Ciliary GPCR Signaling","volume":"39","author":"Hilgendorf","year":"2016","journal-title":"Curr. Opin. Cell Biol."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"1000","DOI":"10.1016\/j.celrep.2015.04.025","article-title":"TGF-\u03b2 Signaling Regulates the Differentiation of Motile Cilia","volume":"11","author":"Earwood","year":"2015","journal-title":"Cell Rep."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.gde.2019.05.002","article-title":"Cilia and Development","volume":"56","author":"Sreekumar","year":"2019","journal-title":"Curr. Opin. Genet. Dev."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"1191","DOI":"10.1038\/s44321-025-00239-x","article-title":"Metabolic Reprogramming in Polycystic Kidney Disease and Other Renal Ciliopathies","volume":"17","author":"Clerici","year":"2025","journal-title":"EMBO Mol. Med."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1016\/S0272-6386(12)80507-5","article-title":"Polycystic Kidney Disease: Neoplasia in Disguise","volume":"15","author":"Grantham","year":"1990","journal-title":"Am. J. Kidney Dis."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1038\/ki.1991.80","article-title":"C-Myc as an Inducer of Polycystic Kidney Disease in Transgenic Mice","volume":"39","author":"Trudel","year":"1991","journal-title":"Kidney Int."},{"key":"ref_101","doi-asserted-by":"crossref","unstructured":"Maser, R.L., Calvet, J.P., and Parnell, S.C. (2022). The GPCR Properties of Polycystin-1- A New Paradigm. Front. Mol. Biosci., 9.","DOI":"10.3389\/fmolb.2022.1035507"},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"dev158931","DOI":"10.1242\/dev.158931","article-title":"Polycystin 1 Loss of Function Is Directly Linked to an Imbalance in G-Protein Signaling in the Kidney","volume":"145","author":"Zhang","year":"2018","journal-title":"Development"},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1006\/bbrc.2001.4554","article-title":"Polycystin-2 Is a Novel Cation Channel Implicated in Defective Intracellular Ca2+ Homeostasis in Polycystic Kidney Disease","volume":"282","author":"Vassilev","year":"2001","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"2179","DOI":"10.1016\/j.cub.2003.12.002","article-title":"A Flagellar Polycystin-2 Homolog Required for Male Fertility in Drosophila","volume":"13","author":"Watnick","year":"2003","journal-title":"Curr. Biol."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1038\/ng0697-179","article-title":"PKD1 Interacts with PKD2 through a Probable Coiled-Coil Domain","volume":"16","author":"Qian","year":"1997","journal-title":"Nat. Genet."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"1649","DOI":"10.1038\/s41588-021-00946-4","article-title":"Renal Plasticity Revealed through Reversal of Polycystic Kidney Disease in Mice","volume":"53","author":"Dong","year":"2021","journal-title":"Nat. Genet."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1016\/j.molmed.2023.01.005","article-title":"Polycystic Kidney Disease: Novel Insights into Polycystin Function","volume":"29","author":"Luo","year":"2023","journal-title":"Trends Mol. Med."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"4947","DOI":"10.1074\/jbc.274.8.4947","article-title":"The Polycystic Kidney Disease 1 Gene Product Modulates Wnt Signaling","volume":"274","author":"Kim","year":"1999","journal-title":"J. Biol. Chem."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"4985","DOI":"10.1038\/s41598-018-23341-2","article-title":"Inhibition of Hedgehog Signaling Suppresses Proliferation and Microcyst Formation of Human Autosomal Dominant Polycystic Kidney Disease Cells","volume":"8","author":"Silva","year":"2018","journal-title":"Sci. Rep."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1101\/gad.316570.118","article-title":"Polycystic Kidney Disease: A Hippo Connection","volume":"32","author":"Ma","year":"2018","journal-title":"Genes Dev."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"3340","DOI":"10.1038\/s41598-018-21132-3","article-title":"Aberrant Regulation of Notch3 Signaling Pathway in Polycystic Kidney Disease","volume":"8","author":"Idowu","year":"2018","journal-title":"Sci. Rep."},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"C487","DOI":"10.1152\/ajpcell.1995.269.2.C487","article-title":"Abnormal Polarization of EGF Receptors and Autocrine Stimulation of Cyst Epithelial Growth in Human ADPKD","volume":"269","author":"Du","year":"1995","journal-title":"Am. J. Physiol."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"2018","DOI":"10.1111\/j.1523-1755.2004.00623.x","article-title":"EGF-Related Growth Factors in the Pathogenesis of Murine ARPKD","volume":"65","author":"Nemo","year":"2004","journal-title":"Kidney Int."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"a014217","DOI":"10.1101\/cshperspect.a014217","article-title":"MYC, Metabolism, Cell Growth, and Tumorigenesis","volume":"3","author":"Dang","year":"2013","journal-title":"Cold Spring Harb. Perspect. Med."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"757534","DOI":"10.1155\/2014\/757534","article-title":"Mammalian MYC Proteins and Cancer","volume":"2014","author":"Tansey","year":"2014","journal-title":"New J. Sci."},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"109594","DOI":"10.1016\/j.cellsig.2020.109594","article-title":"The Master Regulators Myc and P53 Cellular Signaling and Functions in Polycystic Kidney Disease","volume":"71","author":"Kurbegovic","year":"2020","journal-title":"Cell Signal"},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1016\/S0092-8674(00)81512-3","article-title":"Drosophila Myc Regulates Cellular Growth during Development","volume":"98","author":"Johnston","year":"1999","journal-title":"Cell"},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"9897","DOI":"10.1128\/MCB.25.22.9897-9909.2005","article-title":"Human C-Myc Isoforms Differentially Regulate Cell Growth and Apoptosis in Drosophila Melanogaster","volume":"25","author":"Benassayag","year":"2005","journal-title":"Mol. Cell Biol."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1007\/s12031-017-0910-4","article-title":"Transactivation Domain of Human C-Myc Is Essential to Alleviate Poly(Q)-Mediated Neurotoxicity in Drosophila Disease Models","volume":"62","author":"Raj","year":"2017","journal-title":"J. Mol. Neurosci."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"1004","DOI":"10.1038\/ng.2715","article-title":"Loss of Cilia Suppresses Cyst Growth in Genetic Models of Autosomal Dominant Polycystic Kidney Disease","volume":"45","author":"Ma","year":"2013","journal-title":"Nat. Genet."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"5466","DOI":"10.1073\/pnas.0509694103","article-title":"The mTOR Pathway Is Regulated by Polycystin-1, and Its Inhibition Reverses Renal Cystogenesis in Polycystic Kidney Disease","volume":"103","author":"Shillingford","year":"2006","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"1220","DOI":"10.1046\/j.1523-1755.2003.00863.x","article-title":"Delayed Cystogenesis and Increased Ciliogenesis Associated with the Re-Expression of Polaris in Tg737 Mutant Mice","volume":"63","author":"Brown","year":"2003","journal-title":"Kidney Int."},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1681\/ASN.2004080660","article-title":"Rapamycin Markedly Slows Disease Progression in a Rat Model of Polycystic Kidney Disease","volume":"16","author":"Tao","year":"2005","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1093\/ndt\/gfi181","article-title":"Inhibition of mTOR with Sirolimus Slows Disease Progression in Han:SPRD Rats with Autosomal Dominant Polycystic Kidney Disease (ADPKD)","volume":"21","author":"Wahl","year":"2006","journal-title":"Nephrol. Dial. Transpl."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1159\/000104818","article-title":"Everolimus Retards Cyst Growth and Preserves Kidney Function in a Rodent Model for Polycystic Kidney Disease","volume":"30","author":"Wu","year":"2007","journal-title":"Kidney Blood Press. Res."},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1681\/ASN.2009040421","article-title":"Rapamycin Ameliorates PKD Resulting from Conditional Inactivation of Pkd1","volume":"21","author":"Shillingford","year":"2010","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"1312","DOI":"10.2215\/CJN.01360210","article-title":"Prospects for mTOR Inhibitor Use in Patients with Polycystic Kidney Disease and Hamartomatous Diseases","volume":"5","author":"Torres","year":"2010","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"ref_128","doi-asserted-by":"crossref","unstructured":"Gamberi, C., Hipfner, D.R., Trudel, M., and Lubell, W.D. (2017). Bicaudal C Mutation Causes Myc and TOR Pathway Up-Regulation and Polycystic Kidney Disease-like Phenotypes in Drosophila. PLoS Genet., 13.","DOI":"10.1371\/journal.pgen.1006694"},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1038\/s41419-026-08479-6","article-title":"Pellino1-mTOR\/S6K1 Signaling Axis Is a Key Pathogenesis for the Development of Polycystic Kidney Disease","volume":"17","author":"Kim","year":"2026","journal-title":"Cell Death Dis."},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/j.phrs.2015.01.003","article-title":"Src Protein-Tyrosine Kinase Structure, Mechanism, and Small Molecule Inhibitors","volume":"94","author":"Roskoski","year":"2015","journal-title":"Pharmacol. Res."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1146\/annurev.cellbio.13.1.513","article-title":"Cellular Functions Regulated by Src Family Kinases","volume":"13","author":"Thomas","year":"1997","journal-title":"Annu. Rev. Cell Dev. Biol."},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"F145","DOI":"10.1152\/ajprenal.00092.2008","article-title":"Src Regulates Cell Cycle Protein Expression and Renal Epithelial Cell Proliferation via PI3K\/Akt Signaling-Dependent and -Independent Mechanisms","volume":"295","author":"Xing","year":"2008","journal-title":"Am. J. Physiol. Ren. Physiol."},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"C522","DOI":"10.1152\/ajpcell.00163.2010","article-title":"C-Src Inactivation Reduces Renal Epithelial Cell-Matrix Adhesion, Proliferation, and Cyst Formation","volume":"301","author":"Elliott","year":"2011","journal-title":"Am. J. Physiol. Cell Physiol."},{"key":"ref_134","doi-asserted-by":"crossref","unstructured":"Sparapani, S., Millet-Boureima, C., Oliver, J., Mu, K., Hadavi, P., Kalostian, T., Ali, N., Avelar, C.M., Bardies, M., and Barrow, B. (2021). The Biology of Vasopressin. Biomedicines, 9.","DOI":"10.3390\/biomedicines9010089"},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.1681\/ASN.V1171179","article-title":"cAMP Regulates Cell Proliferation and Cyst Formation in Autosomal Polycystic Kidney Disease Cells","volume":"11","author":"Hanaoka","year":"2000","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_136","doi-asserted-by":"crossref","unstructured":"Zittema, D., Casteleijn, N.F., Bakker, S.J.L., Boesten, L.S.M., Duit, A.A.M., Franssen, C.F.M., Gaillard, C.A.J.M., and Gansevoort, R.T. (2017). Urine Concentrating Capacity, Vasopressin and Copeptin in ADPKD and IgA Nephropathy Patients with Renal Impairment. PLoS ONE, 12.","DOI":"10.1371\/journal.pone.0169263"},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"1291","DOI":"10.1016\/j.bbadis.2010.11.005","article-title":"Cyclic AMP-Mediated Cyst Expansion","volume":"1812","author":"Wallace","year":"2011","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1111\/j.1365-2362.1986.tb01312.x","article-title":"Relationship of Angiotensin II, Aldosterone, Arginine Vasopressin, Adrenaline and Noradrenaline in Plasma, Blood and Extracellular Volumes to Blood Pressure in Chronic Glomerulonephritis","volume":"16","author":"Danielsen","year":"1986","journal-title":"Eur. J. Clin. Investig."},{"key":"ref_139","first-page":"329","article-title":"The effect of hypervolemia on electrolyte level and level of volume regulating hormones in patients with autosomal dominant polycystic kidney disease","volume":"96","author":"Michalski","year":"1996","journal-title":"Pol. Arch. Med. Wewn."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"964","DOI":"10.1111\/j.1523-1755.2004.00843.x","article-title":"Cyclic AMP Promotes Growth and Secretion in Human Polycystic Kidney Epithelial Cells","volume":"66","author":"Belibi","year":"2004","journal-title":"Kidney Int."},{"key":"ref_141","first-page":"457","article-title":"Histogenesis of the Renal Cysts in Adult (Autosomal Dominant) Polycystic Kidney Disease: A Histochemical Study","volume":"1","author":"Verani","year":"1988","journal-title":"Mod. Pathol."},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"1323","DOI":"10.1038\/nm935","article-title":"Inhibition of Renal Cystic Disease Development and Progression by a Vasopressin V2 Receptor Antagonist","volume":"9","author":"Gattone","year":"2003","journal-title":"Nat. Med."},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1038\/ng1713","article-title":"The Transmembrane Protein Meckelin (MKS3) Is Mutated in Meckel-Gruber Syndrome and the Wpk Rat","volume":"38","author":"Smith","year":"2006","journal-title":"Nat. Genet."},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1038\/nm1004","article-title":"Effective Treatment of an Orthologous Model of Autosomal Dominant Polycystic Kidney Disease","volume":"10","author":"Torres","year":"2004","journal-title":"Nat. Med."},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"1983","DOI":"10.1046\/j.1523-1755.2003.00023.x","article-title":"Cyclic AMP Activates B-Raf and ERK in Cyst Epithelial Cells from Autosomal-Dominant Polycystic Kidneys","volume":"63","author":"Yamaguchi","year":"2003","journal-title":"Kidney Int."},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1038\/sj.ki.5002229","article-title":"Hyperproliferation of PKD1 Cystic Cells Is Induced by Insulin-like Growth Factor-1 Activation of the Ras\/Raf Signalling System","volume":"72","author":"Parker","year":"2007","journal-title":"Kidney Int."},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1159\/000463063","article-title":"Polycystic Kidney Disease and the Vasopressin Pathway","volume":"70","author":"Torres","year":"2017","journal-title":"Ann. Nutr. Metab."},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"1907","DOI":"10.2174\/1381612043384439","article-title":"MEK Inhibitors: A Therapeutic Approach to Targeting the Ras-MAP Kinase Pathway in Tumors","volume":"10","year":"2004","journal-title":"Curr. Pharm. Des."},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"3491","DOI":"10.1111\/j.1742-4658.2005.04763.x","article-title":"Integrating Signals between cAMP and the RAS\/RAF\/MEK\/ERK Signalling Pathways. Based on the Anniversary Prize of the Gesellschaft F\u00fcr Biochemie Und Molekularbiologie Lecture Delivered on 5 July 2003 at the Special FEBS Meeting in Brussels","volume":"272","author":"Dumaz","year":"2005","journal-title":"FEBS J."},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"109497","DOI":"10.1016\/j.cellsig.2019.109497","article-title":"Proliferative Signaling by ERBB Proteins and RAF\/MEK\/ERK Effectors in Polycystic Kidney Disease","volume":"67","author":"Parker","year":"2020","journal-title":"Cell Signal"},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"1460","DOI":"10.1046\/j.1523-1755.2000.00991.x","article-title":"cAMP Stimulates the in Vitro Proliferation of Renal Cyst Epithelial Cells by Activating the Extracellular Signal-Regulated Kinase Pathway","volume":"57","author":"Yamaguchi","year":"2000","journal-title":"Kidney Int."},{"key":"ref_152","doi-asserted-by":"crossref","unstructured":"Zhou, J.X., Fan, L.X., Li, X., Calvet, J.P., and Li, X. (2015). TNF\u03b1 Signaling Regulates Cystic Epithelial Cell Proliferation through Akt\/mTOR and ERK\/MAPK\/Cdk2 Mediated Id2 Signaling. PLoS ONE, 10.","DOI":"10.1371\/journal.pone.0131043"},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"718","DOI":"10.1038\/ki.1991.87","article-title":"Cytokines in Fluids from Polycystic Kidneys","volume":"39","author":"Gardner","year":"1991","journal-title":"Kidney Int."},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"sfae363","DOI":"10.1093\/ckj\/sfae363","article-title":"Liver Manifestations in Autosomal Dominant Polycystic Kidney Disease (ADPKD) and Their Impact on Quality of Life","volume":"18","author":"Arjune","year":"2025","journal-title":"Clin. Kidney J."},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"1202","DOI":"10.1038\/ncb1326","article-title":"Polycystin-1 and Polycystin-2 Regulate the Cell Cycle through the Helix-Loop-Helix Inhibitor Id2","volume":"7","author":"Li","year":"2005","journal-title":"Nat. Cell Biol."},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1038\/nm1783","article-title":"A Tumor Necrosis Factor-Alpha-Mediated Pathway Promoting Autosomal Dominant Polycystic Kidney Disease","volume":"14","author":"Li","year":"2008","journal-title":"Nat. Med."},{"key":"ref_157","doi-asserted-by":"crossref","first-page":"2010","DOI":"10.1681\/ASN.2013020176","article-title":"Smac-Mimetic-Induced Epithelial Cell Death Reduces the Growth of Renal Cysts","volume":"24","author":"Fan","year":"2013","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_158","doi-asserted-by":"crossref","unstructured":"Millet-Boureima, C., Chingle, R., Lubell, W.D., and Gamberi, C. (2019). Cyst Reduction in a Polycystic Kidney Disease Drosophila Model Using Smac Mimics. Biomedicines, 7.","DOI":"10.3390\/biomedicines7040082"},{"key":"ref_159","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/S0168-9525(00)02028-X","article-title":"The Wnt\/Ca2+ Pathway: A New Vertebrate Wnt Signaling Pathway Takes Shape","volume":"16","author":"Sheldahl","year":"2000","journal-title":"Trends Genet."},{"key":"ref_160","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1038\/nrg2042","article-title":"Frizzled\/PCP Signalling: A Conserved Mechanism Regulating Cell Polarity and Directed Motility","volume":"8","author":"Seifert","year":"2007","journal-title":"Nat. Rev. Genet."},{"key":"ref_161","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1038\/ki.2011.87","article-title":"WNT\/\u03b2-Catenin Signaling in Polycystic Kidney Disease","volume":"80","author":"Wuebken","year":"2011","journal-title":"Kidney Int."},{"key":"ref_162","doi-asserted-by":"crossref","first-page":"5972","DOI":"10.1038\/sj.onc.1204825","article-title":"Early Development of Polycystic Kidney Disease in Transgenic Mice Expressing an Activated Mutant of the Beta-Catenin Gene","volume":"20","author":"Berrebi","year":"2001","journal-title":"Oncogene"},{"key":"ref_163","doi-asserted-by":"crossref","first-page":"2532","DOI":"10.1093\/hmg\/ddp190","article-title":"Toxic Tubular Injury in Kidneys from Pkd1-Deletion Mice Accelerates Cystogenesis Accompanied by Dysregulated Planar Cell Polarity and Canonical Wnt Signaling Pathways","volume":"18","author":"Leonhard","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"ref_164","doi-asserted-by":"crossref","first-page":"3120","DOI":"10.1016\/j.cub.2017.09.011","article-title":"Disruption of Core Planar Cell Polarity Signaling Regulates Renal Tubule Morphogenesis but Is Not Cystogenic","volume":"27","author":"Kunimoto","year":"2017","journal-title":"Curr. Biol."},{"key":"ref_165","doi-asserted-by":"crossref","first-page":"e95874","DOI":"10.1172\/jci.insight.95874","article-title":"Canonical Wnt Inhibitors Ameliorate Cystogenesis in a Mouse Ortholog of Human ADPKD","volume":"3","author":"Li","year":"2018","journal-title":"JCI Insight"},{"key":"ref_166","doi-asserted-by":"crossref","first-page":"27472","DOI":"10.1074\/jbc.M312183200","article-title":"Aberrant Polycystin-1 Expression Results in Modification of Activator Protein-1 Activity, Whereas Wnt Signaling Remains Unaffected","volume":"279","author":"Le","year":"2004","journal-title":"J. Biol. Chem."},{"key":"ref_167","doi-asserted-by":"crossref","first-page":"3105","DOI":"10.1093\/hmg\/ddn208","article-title":"Polycystin-1 C-Terminal Tail Associates with Beta-Catenin and Inhibits Canonical Wnt Signaling","volume":"17","author":"Lal","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"ref_168","doi-asserted-by":"crossref","first-page":"2556","DOI":"10.1681\/ASN.2009030271","article-title":"Conditional Mutation of Pkd2 Causes Cystogenesis and Upregulates Beta-Catenin","volume":"20","author":"Kim","year":"2009","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_169","doi-asserted-by":"crossref","first-page":"1521","DOI":"10.1681\/ASN.2010010127","article-title":"Aberrant Regulation of Planar Cell Polarity in Polycystic Kidney Disease","volume":"21","author":"Luyten","year":"2010","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_170","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1002\/humu.21610","article-title":"Two Mutations in Human BICC1 Resulting in Wnt Pathway Hyperactivity Associated with Cystic Renal Dysplasia","volume":"33","author":"Kraus","year":"2012","journal-title":"Hum. Mutat."},{"key":"ref_171","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1016\/j.devcel.2007.10.002","article-title":"Bicaudal-C Recruits CCR4-NOT Deadenylase to Target mRNAs and Regulates Oogenesis, Cytoskeletal Organization, and Its Own Expression","volume":"13","author":"Chicoine","year":"2007","journal-title":"Dev. Cell"},{"key":"ref_172","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1002\/path.2856","article-title":"Altered Hippo Signalling in Polycystic Kidney Disease","volume":"224","author":"Leonhard","year":"2011","journal-title":"J. Pathol."},{"key":"ref_173","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1101\/gad.315127.118","article-title":"A RhoA-YAP-c-Myc Signaling Axis Promotes the Development of Polycystic Kidney Disease","volume":"32","author":"Cai","year":"2018","journal-title":"Genes Dev."},{"key":"ref_174","doi-asserted-by":"crossref","first-page":"1249","DOI":"10.1016\/j.bbadis.2011.05.005","article-title":"Polycystic Kidney Disease: The Complexity of Planar Cell Polarity and Signaling during Tissue Regeneration and Cyst Formation","volume":"1812","author":"Peters","year":"2011","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_175","doi-asserted-by":"crossref","unstructured":"Grampa, V., Delous, M., Zaidan, M., Odye, G., Thomas, S., Elkhartoufi, N., Filhol, E., Niel, O., Silbermann, F., and Lebreton, C. (2016). Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation. PLoS Genet., 12.","DOI":"10.1371\/journal.pgen.1005894"},{"key":"ref_176","doi-asserted-by":"crossref","first-page":"29001","DOI":"10.1073\/pnas.2009334117","article-title":"TAZ\/Wnt-\u03b2-Catenin\/c-MYC Axis Regulates Cystogenesis in Polycystic Kidney Disease","volume":"117","author":"Lee","year":"2020","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_177","doi-asserted-by":"crossref","unstructured":"Reginensi, A., Scott, R.P., Gregorieff, A., Bagherie-Lachidan, M., Chung, C., Lim, D.-S., Pawson, T., Wrana, J., and McNeill, H. (2013). Yap- and Cdc42-Dependent Nephrogenesis and Morphogenesis during Mouse Kidney Development. PLoS Genet., 9.","DOI":"10.1371\/journal.pgen.1003380"},{"key":"ref_178","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1016\/j.ceb.2012.06.002","article-title":"The Extracellular Matrix and Ciliary Signaling","volume":"24","author":"Golemis","year":"2012","journal-title":"Curr. Opin. Cell Biol."},{"key":"ref_179","first-page":"1311","article-title":"The PKD1 Gene Product, \u201cPolycystin-1,\u201d Is a Tyrosine-Phosphorylated Protein That Colocalizes with Alpha2beta1-Integrin in Focal Clusters in Adherent Renal Epithelia","volume":"79","author":"Wilson","year":"1999","journal-title":"Lab. Investig."},{"key":"ref_180","doi-asserted-by":"crossref","first-page":"1322","DOI":"10.1016\/j.bbadis.2011.03.003","article-title":"Polycystins, Focal Adhesions and Extracellular Matrix Interactions","volume":"1812","author":"Drummond","year":"2011","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_181","doi-asserted-by":"crossref","first-page":"1459","DOI":"10.1172\/JCI5111","article-title":"Polycystin-1, the PKD1 Gene Product, Is in a Complex Containing E-Cadherin and the Catenins","volume":"104","author":"Huan","year":"1999","journal-title":"J. Clin. Investig."},{"key":"ref_182","doi-asserted-by":"crossref","first-page":"2508","DOI":"10.1097\/01.ASN.0000029587.47950.25","article-title":"The Polycystic Kidney Disease Proteins, Polycystin-1, Polycystin-2, Polaris, and Cystin, Are Co-Localized in Renal Cilia","volume":"13","author":"Yoder","year":"2002","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_183","doi-asserted-by":"crossref","first-page":"888","DOI":"10.1681\/ASN.2013111179","article-title":"Inactivation of Integrin-\u03921 Prevents the Development of Polycystic Kidney Disease after the Loss of Polycystin-1","volume":"26","author":"Lee","year":"2015","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_184","doi-asserted-by":"crossref","first-page":"F1306","DOI":"10.1152\/ajprenal.00070.2020","article-title":"Integrin-\u03921 Is Required for the Renal Cystogenesis Caused by Ciliary Defects","volume":"318","author":"Yoo","year":"2020","journal-title":"Am. J. Physiol. Ren. Physiol."},{"key":"ref_185","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1681\/ASN.0000000941","article-title":"Integrin \u03b1 1 \u03b2 1 Promotes Interstitial Fibrosis and Cyst Growth in a Mouse Model of Polycystic Kidney Disease","volume":"37","author":"Grenier","year":"2026","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_186","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1681\/ASN.2005050534","article-title":"Polycystin-1 Induces Resistance to Apoptosis through the Phosphatidylinositol 3-Kinase\/Akt Signaling Pathway","volume":"17","author":"Boca","year":"2006","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_187","doi-asserted-by":"crossref","first-page":"109468","DOI":"10.1016\/j.cellsig.2019.109468","article-title":"The PI3K\/Akt\/mTOR Pathway in Polycystic Kidney Disease: A Complex Interaction with Polycystins and Primary Cilium","volume":"66","author":"Margaria","year":"2020","journal-title":"Cell Signal"},{"key":"ref_188","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1016\/j.cell.2017.07.029","article-title":"The PI3K Pathway in Human Disease","volume":"170","author":"Fruman","year":"2017","journal-title":"Cell"},{"key":"ref_189","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/j.cell.2017.04.001","article-title":"AKT\/PKB Signaling: Navigating the Network","volume":"169","author":"Manning","year":"2017","journal-title":"Cell"},{"key":"ref_190","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1038\/ncb2152","article-title":"AMPK and mTOR Regulate Autophagy through Direct Phosphorylation of Ulk1","volume":"13","author":"Kim","year":"2011","journal-title":"Nat. Cell Biol."},{"key":"ref_191","doi-asserted-by":"crossref","unstructured":"Swenson-Fields, K.I., Ward, C.J., Lopez, M.E., Fross, S., Heimes Dillon, A.L., Meisenheimer, J.D., Rabbani, A.J., Wedlock, E., Basu, M.K., and Jansson, K.P. (2022). Caspase-1 and the Inflammasome Promote Polycystic Kidney Disease Progression. Front. Mol. Biosci., 9.","DOI":"10.3389\/fmolb.2022.971219"},{"key":"ref_192","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1126\/science.1115035","article-title":"Caspases 3 and 7: Key Mediators of Mitochondrial Events of Apoptosis","volume":"311","author":"Lakhani","year":"2006","journal-title":"Science"},{"key":"ref_193","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1111\/j.1523-1755.2005.00155.x","article-title":"Pathways of Caspase-Mediated Apoptosis in Autosomal-Dominant Polycystic Kidney Disease (ADPKD)","volume":"67","author":"Tao","year":"2005","journal-title":"Kidney Int."},{"key":"ref_194","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1093\/genetics\/112.4.803","article-title":"Dominant Maternal-Effect Mutations of Drosophila Melanogaster Causing the Production of Double-Abdomen Embryos","volume":"112","author":"Mohler","year":"1986","journal-title":"Genetics"},{"key":"ref_195","doi-asserted-by":"crossref","first-page":"2043","DOI":"10.1002\/j.1460-2075.1995.tb07196.x","article-title":"Localized Bicaudal-C RNA Encodes a Protein Containing a KH Domain, the RNA Binding Motif of FMR1","volume":"14","author":"Mahone","year":"1995","journal-title":"EMBO J."},{"key":"ref_196","doi-asserted-by":"crossref","first-page":"4855","DOI":"10.1128\/MCB.18.8.4855","article-title":"Premature Translation of Oskar in Oocytes Lacking the RNA-Binding Protein Bicaudal-C","volume":"18","author":"Saffman","year":"1998","journal-title":"Mol. Cell Biol."},{"key":"ref_197","doi-asserted-by":"crossref","first-page":"141386","DOI":"10.1155\/2012\/141386","article-title":"The Bic-C Family of Developmental Translational Regulators","volume":"2012","author":"Gamberi","year":"2012","journal-title":"Comp. Funct. Genom."},{"key":"ref_198","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/S0074-7696(06)48002-5","article-title":"Drosophila RNA Binding Proteins","volume":"248","author":"Gamberi","year":"2006","journal-title":"Int. Rev. Cytol."},{"key":"ref_199","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1016\/j.ydbio.2007.04.030","article-title":"Xenopus Bicaudal-C Is Required for the Differentiation of the Amphibian Pronephros","volume":"307","author":"Tran","year":"2007","journal-title":"Dev. Biol."},{"key":"ref_200","doi-asserted-by":"crossref","first-page":"3019","DOI":"10.1242\/dev.038174","article-title":"Bicaudal C, a Novel Regulator of Dvl Signaling Abutting RNA-Processing Bodies, Controls Cilia Orientation and Leftward Flow","volume":"136","author":"Maisonneuve","year":"2009","journal-title":"Development"},{"key":"ref_201","first-page":"96","article-title":"Knockdown of Bicaudal C in Zebrafish (Danio Rerio) Causes Cystic Kidneys: A Nonmammalian Model of Polycystic Kidney Disease","volume":"60","author":"Bouvrette","year":"2010","journal-title":"Comp. Med."},{"key":"ref_202","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1242\/dev.046045","article-title":"The RNA-Binding Protein Bicaudal C Regulates Polycystin 2 in the Kidney by Antagonizing miR-17 Activity","volume":"137","author":"Tran","year":"2010","journal-title":"Development"},{"key":"ref_203","doi-asserted-by":"crossref","unstructured":"Lian, P., Li, A., Li, Y., Liu, H., Liang, D., Hu, B., Lin, D., Jiang, T., Moeckel, G., and Qin, D. (2014). Loss of Polycystin-1 Inhibits Bicc1 Expression during Mouse Development. PLoS ONE, 9.","DOI":"10.1371\/journal.pone.0088816"},{"key":"ref_204","doi-asserted-by":"crossref","first-page":"RP106342","DOI":"10.7554\/eLife.106342.3","article-title":"BICC1 Interacts with PKD1 and PKD2 to Drive Cystogenesis in ADPKD","volume":"14","author":"Tran","year":"2026","journal-title":"eLife"},{"key":"ref_205","doi-asserted-by":"crossref","unstructured":"Messing, M., Torres, J.A., Holznecht, N., and Weimbs, T. (2024). Trigger Warning: How Modern Diet, Lifestyle, and Environment Pull the Trigger on Autosomal Dominant Polycystic Kidney Disease Progression. Nutrients, 16.","DOI":"10.3390\/nu16193281"},{"key":"ref_206","first-page":"1153","article-title":"Dysregulation of Cellular Proliferation and Apoptosis Mediates Human Autosomal Dominant Polycystic Kidney Disease (ADPKD)","volume":"13","author":"Lanoix","year":"1996","journal-title":"Oncogene"},{"key":"ref_207","doi-asserted-by":"crossref","first-page":"1926","DOI":"10.1101\/gad.1212704","article-title":"Upstream and Downstream of mTOR","volume":"18","author":"Hay","year":"2004","journal-title":"Genes Dev."},{"key":"ref_208","doi-asserted-by":"crossref","first-page":"1331","DOI":"10.1681\/ASN.2007060665","article-title":"Src Inhibition Ameliorates Polycystic Kidney Disease","volume":"19","author":"Sweeney","year":"2008","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_209","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1016\/j.biopha.2018.07.178","article-title":"Comparative Transcriptomics of Shear Stress Treated Pkd1-\/- Cells and Pre-Cystic Kidneys Reveals Pathways Involved in Early Polycystic Kidney Disease","volume":"108","author":"Kunnen","year":"2018","journal-title":"Biomed. Pharmacother."},{"key":"ref_210","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1038\/nrm3598","article-title":"The Mechanisms of Hedgehog Signalling and Its Roles in Development and Disease","volume":"14","author":"Briscoe","year":"2013","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"ref_211","doi-asserted-by":"crossref","first-page":"1267","DOI":"10.1007\/s00109-012-0902-3","article-title":"Polycystin-1 Regulates Amphiregulin Expression through CREB and AP1 Signalling: Implications in ADPKD Cell Proliferation","volume":"90","author":"Aguiari","year":"2012","journal-title":"J. Mol. Med."},{"key":"ref_212","doi-asserted-by":"crossref","unstructured":"Haumann, S., M\u00fcller, R.-U., and Liebau, M.C. (2020). Metabolic Changes in Polycystic Kidney Disease as a Potential Target for Systemic Treatment. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21176093"},{"key":"ref_213","doi-asserted-by":"crossref","first-page":"F414","DOI":"10.1152\/ajprenal.00167.2018","article-title":"Truncating PKHD1 and PKD2 Mutations Alter Energy Metabolism","volume":"316","author":"Chumley","year":"2019","journal-title":"Am. J. Physiol. Ren. Physiol."},{"key":"ref_214","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1046\/j.1523-1755.2003.00755.x","article-title":"Renal Activation of Extracellular Signal-Regulated Kinase in Rats with Autosomal-Dominant Polycystic Kidney Disease","volume":"63","author":"Nagao","year":"2003","journal-title":"Kidney Int."},{"key":"ref_215","doi-asserted-by":"crossref","first-page":"7214","DOI":"10.1074\/jbc.M805890200","article-title":"Cyst formation in kidney via B-Raf signaling in the PKD2 transgenic mice","volume":"284","author":"Park","year":"2009","journal-title":"J. Biol. Chem."},{"key":"ref_216","doi-asserted-by":"crossref","first-page":"1048","DOI":"10.1681\/ASN.V181048","article-title":"Elevated Proto-Oncogene Expression in Polycystic Kidneys of the C57BL\/6J (Cpk) Mouse","volume":"1","author":"Cowley","year":"1991","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_217","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1681\/ASN.2007060688","article-title":"Vasopressin Directly Regulates Cyst Growth in Polycystic Kidney Disease","volume":"19","author":"Wang","year":"2008","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_218","doi-asserted-by":"crossref","first-page":"2220","DOI":"10.1681\/ASN.2006030251","article-title":"Increased Water Intake Decreases Progression of Polycystic Kidney Disease in the PCK Rat","volume":"17","author":"Nagao","year":"2006","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_219","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1097\/MNH.0b013e3283621510","article-title":"Osmoregulation, Vasopressin, and cAMP Signaling in Autosomal Dominant Polycystic Kidney Disease","volume":"22","author":"Devuyst","year":"2013","journal-title":"Curr. Opin. Nephrol. Hypertens."},{"key":"ref_220","doi-asserted-by":"crossref","first-page":"G850","DOI":"10.1152\/ajpgi.00077.2003","article-title":"Activation of AMP-Activated Protein Kinase Reduces cAMP-Mediated Epithelial Chloride Secretion","volume":"285","author":"Walker","year":"2003","journal-title":"Am. J. Physiol. Gastrointest. Liver Physiol."},{"key":"ref_221","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1016\/j.bbadis.2006.04.006","article-title":"Inhibition of HER-2(Neu\/ErbB2) Restores Normal Function and Structure to Polycystic Kidney Disease (PKD) Epithelia","volume":"1762","author":"Wilson","year":"2006","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_222","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/S0092-8674(02)00716-X","article-title":"PKD1 Induces P21(Waf1) and Regulation of the Cell Cycle via Direct Activation of the JAK-STAT Signaling Pathway in a Process Requiring PKD2","volume":"109","author":"Bhunia","year":"2002","journal-title":"Cell"},{"key":"ref_223","doi-asserted-by":"crossref","first-page":"1426","DOI":"10.2215\/CJN.0000000000000269","article-title":"Prostaglandin E2, Osmoregulation, and Disease Progression in Autosomal Dominant Polycystic Kidney Disease","volume":"18","author":"Geurts","year":"2023","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"ref_224","doi-asserted-by":"crossref","first-page":"F1425","DOI":"10.1152\/ajprenal.00010.2012","article-title":"Prostaglandin E(2) Mediates Proliferation and Chloride Secretion in ADPKD Cystic Renal Epithelia","volume":"303","author":"Liu","year":"2012","journal-title":"Am. J. Physiol. Ren. Physiol."},{"key":"ref_225","doi-asserted-by":"crossref","first-page":"55455","DOI":"10.1074\/jbc.M402905200","article-title":"Polycystin-1 Activates the Calcineurin\/NFAT (Nuclear Factor of Activated T-Cells) Signaling Pathway","volume":"279","author":"Puri","year":"2004","journal-title":"J. Biol. Chem."},{"key":"ref_226","doi-asserted-by":"crossref","first-page":"34042","DOI":"10.1074\/jbc.M305110200","article-title":"Human Caspase-7 Activity and Regulation by Its N-Terminal Peptide","volume":"278","author":"Denault","year":"2003","journal-title":"J. Biol. Chem."},{"key":"ref_227","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1038\/s41421-025-00791-3","article-title":"Caspases: Structural and Molecular Mechanisms and Functions in Cell Death, Innate Immunity, and Disease","volume":"11","author":"Nadendla","year":"2025","journal-title":"Cell Discov."},{"key":"ref_228","doi-asserted-by":"crossref","first-page":"1473","DOI":"10.1007\/s00467-008-0851-9","article-title":"Pathways of Apoptosis in Human Autosomal Recessive and Autosomal Dominant Polycystic Kidney Diseases","volume":"23","author":"Goilav","year":"2008","journal-title":"Pediatr. Nephrol."},{"key":"ref_229","doi-asserted-by":"crossref","unstructured":"Dere, R., Wilson, P.D., Sandford, R.N., and Walker, C.L. (2010). Carboxy Terminal Tail of Polycystin-1 Regulates Localization of TSC2 to Repress mTOR. PLoS ONE, 5.","DOI":"10.1371\/journal.pone.0009239"},{"key":"ref_230","doi-asserted-by":"crossref","unstructured":"Bakaj, I., and Pocai, A. (2023). Metabolism-Based Approaches for Autosomal Dominant Polycystic Kidney Disease. Front. Mol. Biosci., 10.","DOI":"10.3389\/fmolb.2023.1126055"},{"key":"ref_231","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1681\/ASN.2008040345","article-title":"Increased Expression of Secreted Frizzled-Related Protein 4 in Polycystic Kidneys","volume":"20","author":"Romaker","year":"2009","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_232","doi-asserted-by":"crossref","unstructured":"Li, X. (2015). Epigenetics in ADPKD: Understanding Mechanisms and Discovering Treatment. Polycystic Kidney Disease, Codon Publications.","DOI":"10.15586\/codon.pkd.2015.ch12"},{"key":"ref_233","doi-asserted-by":"crossref","first-page":"29577","DOI":"10.1074\/jbc.M203570200","article-title":"The Polycystic Kidney Disease-1 Promoter Is a Target of the Beta-Catenin\/T-Cell Factor Pathway","volume":"277","author":"Rodova","year":"2002","journal-title":"J. Biol. Chem."},{"key":"ref_234","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.trsl.2023.10.005","article-title":"Repurposing Calcium-Sensing Receptor Activator Drug Cinacalcet for ADPKD Treatment","volume":"265","author":"Yottasan","year":"2024","journal-title":"Transl. Res."},{"key":"ref_235","doi-asserted-by":"crossref","first-page":"1312","DOI":"10.1681\/ASN.2015010057","article-title":"Modulation of Polycystic Kidney Disease Severity by Phosphodiesterase 1 and 3 Subfamilies","volume":"27","author":"Ye","year":"2016","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_236","doi-asserted-by":"crossref","first-page":"R251","DOI":"10.1093\/hmg\/ddi260","article-title":"Tuberous Sclerosis: A GAP at the Crossroads of Multiple Signaling Pathways","volume":"14","author":"Kwiatkowski","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"ref_237","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1681\/ASN.2009060672","article-title":"GSK3beta Mediates Renal Response to Vasopressin by Modulating Adenylate Cyclase Activity","volume":"21","author":"Rao","year":"2010","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_238","doi-asserted-by":"crossref","first-page":"1164","DOI":"10.1038\/ki.2014.427","article-title":"Glycogen Synthase Kinase-3\u03b2 Promotes Cyst Expansion in Polycystic Kidney Disease","volume":"87","author":"Tao","year":"2015","journal-title":"Kidney Int."},{"key":"ref_239","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1681\/ASN.2009060603","article-title":"Loss of Oriented Cell Division Does Not Initiate Cyst Formation","volume":"21","author":"Nishio","year":"2010","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_240","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1016\/S0140-6736(03)12662-1","article-title":"Polycystic Kidney Disease\u2014the Ciliary Connection","volume":"361","author":"Ong","year":"2003","journal-title":"Lancet"},{"key":"ref_241","doi-asserted-by":"crossref","first-page":"a028191","DOI":"10.1101\/cshperspect.a028191","article-title":"Ciliopathies","volume":"9","author":"Braun","year":"2017","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"ref_242","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1038\/ng1076","article-title":"Polycystins 1 and 2 Mediate Mechanosensation in the Primary Cilium of Kidney Cells","volume":"33","author":"Nauli","year":"2003","journal-title":"Nat. Genet."},{"key":"ref_243","doi-asserted-by":"crossref","first-page":"279","DOI":"10.23876\/j.krcp.23.083","article-title":"Primary Cilia of the Kidney: From Ciliopathy to Urinary Concentration","volume":"42","author":"Kim","year":"2023","journal-title":"Kidney Res. Clin. Pract."},{"key":"ref_244","doi-asserted-by":"crossref","first-page":"73","DOI":"10.5483\/BMBRep.2013.46.2.022","article-title":"Mouse Models of Polycystic Kidney Disease Induced by Defects of Ciliary Proteins","volume":"46","author":"Ko","year":"2013","journal-title":"BMB Rep."},{"key":"ref_245","doi-asserted-by":"crossref","first-page":"1225","DOI":"10.1016\/j.kint.2020.05.049","article-title":"Genetic Reduction of Cilium Length by Targeting Intraflagellar Transport 88 Protein Impedes Kidney and Liver Cyst Formation in Mouse Models of Autosomal Polycystic Kidney Disease","volume":"98","author":"Shao","year":"2020","journal-title":"Kidney Int."},{"key":"ref_246","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/j.semcdb.2020.05.003","article-title":"Cilia and Polycystic Kidney Disease","volume":"110","author":"Ma","year":"2021","journal-title":"Semin. Cell Dev. Biol."},{"key":"ref_247","doi-asserted-by":"crossref","first-page":"109519","DOI":"10.1016\/j.cellsig.2019.109519","article-title":"Cilia in Cystic Kidney and Other Diseases","volume":"69","author":"Pazour","year":"2020","journal-title":"Cell Signal"},{"key":"ref_248","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1053\/j.akdh.2023.03.001","article-title":"Mechanisms of Cyst Development in Polycystic Kidney Disease","volume":"30","author":"Qiu","year":"2023","journal-title":"Adv. Kidney Dis. Health"},{"key":"ref_249","doi-asserted-by":"crossref","unstructured":"Walker, R.V., Maranto, A., Palicharla, V.R., Hwang, S.-H., Mukhopadhyay, S., and Qian, F. (2022). Cilia-Localized Counterregulatory Signals as Drivers of Renal Cystogenesis. Front. Mol. Biosci., 9.","DOI":"10.3389\/fmolb.2022.936070"},{"key":"ref_250","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1038\/s42003-018-0200-x","article-title":"Dissection of Metabolic Reprogramming in Polycystic Kidney Disease Reveals Coordinated Rewiring of Bioenergetic Pathways","volume":"1","author":"Podrini","year":"2018","journal-title":"Commun. Biol."},{"key":"ref_251","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1016\/j.cub.2019.01.054","article-title":"Tulp3 Is a Ciliary Trafficking Gene That Regulates Polycystic Kidney Disease","volume":"29","author":"Liem","year":"2019","journal-title":"Curr. Biol."},{"key":"ref_252","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1152\/physiolgenomics.00040.2023","article-title":"Polycystin-2-Dependent Transcriptome Reveals Early Response of Autosomal Dominant Polycystic Kidney Disease","volume":"55","author":"Jung","year":"2023","journal-title":"Physiol. Genom."},{"key":"ref_253","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1038\/s42255-023-00754-6","article-title":"Primary Cilia Sense Glutamine Availability and Respond via Asparagine Synthetase","volume":"5","author":"Steidl","year":"2023","journal-title":"Nat. Metab."},{"key":"ref_254","doi-asserted-by":"crossref","first-page":"1379","DOI":"10.1038\/s44321-024-00071-9","article-title":"Inhibition of Asparagine Synthetase Effectively Retards Polycystic Kidney Disease Progression","volume":"16","author":"Clerici","year":"2024","journal-title":"EMBO Mol. Med."},{"key":"ref_255","doi-asserted-by":"crossref","first-page":"3698","DOI":"10.1038\/s41467-024-48025-6","article-title":"Glis2 Is an Early Effector of Polycystin Signaling and a Target for Therapy in Polycystic Kidney Disease","volume":"15","author":"Zhang","year":"2024","journal-title":"Nat. Commun."},{"key":"ref_256","doi-asserted-by":"crossref","unstructured":"Fogelgren, B., Lin, S.-Y., Zuo, X., Jaffe, K.M., Park, K.M., Reichert, R.J., Bell, P.D., Burdine, R.D., and Lipschutz, J.H. (2011). The Exocyst Protein Sec10 Interacts with Polycystin-2 and Knockdown Causes PKD-Phenotypes. PLoS Genet., 7.","DOI":"10.1371\/journal.pgen.1001361"},{"key":"ref_257","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1016\/j.cell.2017.01.004","article-title":"The In Vivo Architecture of the Exocyst Provides Structural Basis for Exocytosis","volume":"168","author":"Picco","year":"2017","journal-title":"Cell"},{"key":"ref_258","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1038\/s41594-017-0016-2","article-title":"Cryo-EM Structure of the Exocyst Complex","volume":"25","author":"Mei","year":"2018","journal-title":"Nat. Struct. Mol. Biol."},{"key":"ref_259","doi-asserted-by":"crossref","first-page":"e12116","DOI":"10.14814\/phy2.12116","article-title":"The Exocyst and Regulatory GTPases in Urinary Exosomes","volume":"2","author":"Choi","year":"2014","journal-title":"Physiol. Rep."},{"key":"ref_260","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1016\/j.bbrc.2018.01.013","article-title":"Downregulation of Exocyst Sec10 Accelerates Kidney Tubule Cell Recovery through Enhanced Cell Migration","volume":"496","author":"Noh","year":"2018","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_261","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1681\/ASN.2012020154","article-title":"Proximal Tubule Proliferation Is Insufficient to Induce Rapid Cyst Formation after Cilia Disruption","volume":"24","author":"Sharma","year":"2013","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_262","doi-asserted-by":"crossref","first-page":"10786","DOI":"10.1038\/ncomms10786","article-title":"mTORC1-Mediated Inhibition of Polycystin-1 Expression Drives Renal Cyst Formation in Tuberous Sclerosis Complex","volume":"7","author":"Pema","year":"2016","journal-title":"Nat. Commun."},{"key":"ref_263","doi-asserted-by":"crossref","first-page":"2328","DOI":"10.1093\/hmg\/ddp165","article-title":"Systems Biology of Autosomal Dominant Polycystic Kidney Disease (ADPKD): Computational Identification of Gene Expression Pathways and Integrated Regulatory Networks","volume":"18","author":"Song","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"ref_264","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1038\/nm.3092","article-title":"Defective Glucose Metabolism in Polycystic Kidney Disease Identifies a New Therapeutic Strategy","volume":"19","author":"Rowe","year":"2013","journal-title":"Nat. Med."},{"key":"ref_265","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1016\/j.bbrc.2017.05.060","article-title":"The Changes in Glucose Metabolism and Cell Proliferation in the Kidneys of Polycystic Kidney Disease Mini-Pig Models","volume":"488","author":"Lian","year":"2017","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_266","doi-asserted-by":"crossref","first-page":"6629","DOI":"10.1038\/s41598-021-84609-8","article-title":"Metabolic Profiling in Children and Young Adults with Autosomal Dominant Polycystic Kidney Disease","volume":"11","author":"Baliga","year":"2021","journal-title":"Sci. Rep."},{"key":"ref_267","doi-asserted-by":"crossref","first-page":"1553","DOI":"10.1152\/physrev.00018.2024","article-title":"Physiologic Mechanisms Underlying Polycystic Kidney Disease","volume":"105","author":"Boletta","year":"2025","journal-title":"Physiol. Rev."},{"key":"ref_268","doi-asserted-by":"crossref","first-page":"1958","DOI":"10.1681\/ASN.2015030231","article-title":"2-Deoxy-d-Glucose Ameliorates PKD Progression","volume":"27","author":"Chiaravalli","year":"2016","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_269","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1016\/j.cmet.2019.09.012","article-title":"Ketosis Ameliorates Renal Cyst Growth in Polycystic Kidney Disease","volume":"30","author":"Torres","year":"2019","journal-title":"Cell Metab."},{"key":"ref_270","doi-asserted-by":"crossref","unstructured":"Menezes, L.F., Zhou, F., Patterson, A.D., Piontek, K.B., Krausz, K.W., Gonzalez, F.J., and Germino, G.G. (2012). Network Analysis of a Pkd1-Mouse Model of Autosomal Dominant Polycystic Kidney Disease Identifies HNF4\u03b1 as a Disease Modifier. PLoS Genet., 8.","DOI":"10.1371\/journal.pgen.1003053"},{"key":"ref_271","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/j.ebiom.2016.01.027","article-title":"Fatty Acid Oxidation Is Impaired in An Orthologous Mouse Model of Autosomal Dominant Polycystic Kidney Disease","volume":"5","author":"Menezes","year":"2016","journal-title":"EBioMedicine"},{"key":"ref_272","doi-asserted-by":"crossref","first-page":"F1855","DOI":"10.1152\/ajprenal.00025.2018","article-title":"Arginine Reprogramming in ADPKD Results in Arginine-Dependent Cystogenesis","volume":"315","author":"Trott","year":"2018","journal-title":"Am. J. Physiol. Ren. Physiol."},{"key":"ref_273","doi-asserted-by":"crossref","first-page":"1234","DOI":"10.1016\/j.cmet.2021.03.024","article-title":"A Methionine-Mettl3-N6-Methyladenosine Axis Promotes Polycystic Kidney Disease","volume":"33","author":"Ramalingam","year":"2021","journal-title":"Cell Metab."},{"key":"ref_274","doi-asserted-by":"crossref","first-page":"14395","DOI":"10.1038\/ncomms14395","article-title":"microRNA-17 Family Promotes Polycystic Kidney Disease Progression Through Modulation of Mitochondrial Metabolism","volume":"8","author":"Hajarnis","year":"2017","journal-title":"Nat. Commun."},{"key":"ref_275","doi-asserted-by":"crossref","first-page":"F122","DOI":"10.1152\/ajprenal.00352.2017","article-title":"PPAR\u03b1 Agonist Fenofibrate Enhances Fatty Acid \u03b2-Oxidation and Attenuates Polycystic Kidney and Liver Disease in Mice","volume":"314","author":"Lakhia","year":"2018","journal-title":"Am. J. Physiol. Ren. Physiol."},{"key":"ref_276","doi-asserted-by":"crossref","first-page":"1200","DOI":"10.1038\/s42003-021-02730-w","article-title":"Metabolic Derangement in Polycystic Kidney Disease Mouse Models Is Ameliorated by Mitochondrial-Targeted Antioxidants","volume":"4","author":"Daneshgar","year":"2021","journal-title":"Commun. Biol."},{"key":"ref_277","doi-asserted-by":"crossref","first-page":"10765","DOI":"10.1073\/pnas.1301693110","article-title":"miR-17~92 miRNA Cluster Promotes Kidney Cyst Growth in Polycystic Kidney Disease","volume":"110","author":"Patel","year":"2013","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_278","doi-asserted-by":"crossref","first-page":"1920","DOI":"10.1038\/s41598-019-38566-y","article-title":"Anti-microRNA Screen Uncovers miR-17 Family within miR-17~92 Cluster as the Primary Driver of Kidney Cyst Growth","volume":"9","author":"Yheskel","year":"2019","journal-title":"Sci. Rep."},{"key":"ref_279","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1038\/s41581-025-01037-x","article-title":"Bioengineering and Nephrology Converge to Drive Kidney-Targeted Therapies","volume":"22","author":"Patel","year":"2026","journal-title":"Nat. Rev. Nephrol."},{"key":"ref_280","doi-asserted-by":"crossref","first-page":"e00337-17","DOI":"10.1128\/MCB.00337-17","article-title":"Mitochondrial Abnormality Facilitates Cyst Formation in Autosomal Dominant Polycystic Kidney Disease","volume":"37","author":"Ishimoto","year":"2017","journal-title":"Mol. Cell Biol."},{"key":"ref_281","doi-asserted-by":"crossref","first-page":"6497","DOI":"10.1038\/s41467-022-34255-z","article-title":"Defining Cellular Complexity in Human Autosomal Dominant Polycystic Kidney Disease by Multimodal Single Cell Analysis","volume":"13","author":"Muto","year":"2022","journal-title":"Nat. Commun."},{"key":"ref_282","doi-asserted-by":"crossref","first-page":"e2410830121","DOI":"10.1073\/pnas.2410830121","article-title":"Multiomics Profiling of Mouse Polycystic Kidney Disease Progression at a Single-Cell Resolution","volume":"121","author":"Muto","year":"2024","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_283","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1091\/mbc.e16-08-0597","article-title":"The Polycystins Are Modulated by Cellular Oxygen-Sensing Pathways and Regulate Mitochondrial Function","volume":"28","author":"Padovano","year":"2017","journal-title":"Mol. Biol. Cell"},{"key":"ref_284","doi-asserted-by":"crossref","first-page":"2743","DOI":"10.1038\/s41598-018-20856-6","article-title":"A Cleavage Product of Polycystin-1 Is a Mitochondrial Matrix Protein That Affects Mitochondria Morphology and Function When Heterologously Expressed","volume":"8","author":"Lin","year":"2018","journal-title":"Sci. Rep."},{"key":"ref_285","doi-asserted-by":"crossref","first-page":"6493","DOI":"10.1096\/fj.201901739RR","article-title":"Increased Mitochondrial Fragmentation in Polycystic Kidney Disease Acts as a Modifier of Disease Progression","volume":"34","author":"Cassina","year":"2020","journal-title":"FASEB J."},{"key":"ref_286","doi-asserted-by":"crossref","unstructured":"Kahveci, A.S., Barnatan, T.T., Kahveci, A., Adrian, A.E., Arroyo, J., Eirin, A., Harris, P.C., Lerman, A., Lerman, L.O., and Torres, V.E. (2020). Oxidative Stress and Mitochondrial Abnormalities Contribute to Decreased Endothelial Nitric Oxide Synthase Expression and Renal Disease Progression in Early Experimental Polycystic Kidney Disease. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21061994"},{"key":"ref_287","doi-asserted-by":"crossref","unstructured":"Hofherr, A., Seger, C., Fitzpatrick, F., Busch, T., Michel, E., Luan, J., Osterried, L., Linden, F., Kramer-Zucker, A., and Wakimoto, B. (2018). The Mitochondrial Transporter SLC25A25 Links Ciliary TRPP2 Signaling and Cellular Metabolism. PLoS Biol., 16.","DOI":"10.1371\/journal.pbio.2005651"},{"key":"ref_288","doi-asserted-by":"crossref","first-page":"1790","DOI":"10.1038\/s41467-023-37449-1","article-title":"The C-Terminal Tail of Polycystin-1 Suppresses Cystic Disease in a Mitochondrial Enzyme-Dependent Fashion","volume":"14","author":"Onuchic","year":"2023","journal-title":"Nat. Commun."},{"key":"ref_289","unstructured":"(2026, June 25). Home Page-Polycystic Kidney Disease|PKD Treatment Research|PKD Foundation. Available online: https:\/\/pkdcure.org\/."},{"key":"ref_290","doi-asserted-by":"crossref","first-page":"2194","DOI":"10.1093\/ndt\/gft513","article-title":"Mechanisms and Management of Hypertension in Autosomal Dominant Polycystic Kidney Disease","volume":"29","author":"Williams","year":"2014","journal-title":"Nephrol. Dial. Transpl."},{"key":"ref_291","doi-asserted-by":"crossref","unstructured":"Li, X. (2015). Blood Pressure Control for Polycystic Kidney Disease. Polycystic Kidney Disease, Codon Publications.","DOI":"10.15586\/codon.pkd.2015"},{"key":"ref_292","doi-asserted-by":"crossref","first-page":"2407","DOI":"10.1056\/NEJMoa1205511","article-title":"Tolvaptan in Patients with Autosomal Dominant Polycystic Kidney Disease","volume":"367","author":"Torres","year":"2012","journal-title":"N. Engl. J. Med."},{"key":"ref_293","doi-asserted-by":"crossref","first-page":"2458","DOI":"10.1681\/ASN.2018060590","article-title":"A Practical Guide for Treatment of Rapidly Progressive ADPKD with Tolvaptan","volume":"29","author":"Chebib","year":"2018","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_294","doi-asserted-by":"crossref","first-page":"41","DOI":"10.2147\/IJNRD.S125942","article-title":"Tolvaptan in the Treatment of Autosomal Dominant Polycystic Kidney Disease: Patient Selection and Special Considerations","volume":"11","author":"Joly","year":"2018","journal-title":"Int. J. Nephrol. Renov. Dis."},{"key":"ref_295","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1056\/NEJMoa1003491","article-title":"Everolimus in Patients with Autosomal Dominant Polycystic Kidney Disease","volume":"363","author":"Walz","year":"2010","journal-title":"N. Engl. J. Med."},{"key":"ref_296","doi-asserted-by":"crossref","first-page":"15140","DOI":"10.1038\/s41598-024-65830-7","article-title":"Rapamycin-Encapsulated Nanoparticle Delivery in Polycystic Kidney Disease Mice","volume":"14","author":"Yamaguchi","year":"2024","journal-title":"Sci. Rep."},{"key":"ref_297","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1056\/NEJMe1006925","article-title":"mTOR Inhibitors in Polycystic Kidney Disease","volume":"363","author":"Watnick","year":"2010","journal-title":"N. Engl. J. Med."},{"key":"ref_298","doi-asserted-by":"crossref","first-page":"2349","DOI":"10.1093\/ndt\/gfp129","article-title":"Long-Term Rapamycin Therapy in the Han:SPRD Rat Model of Polycystic Kidney Disease (PKD)","volume":"24","author":"Zafar","year":"2009","journal-title":"Nephrol. Dial. Transpl."},{"key":"ref_299","first-page":"69","article-title":"Polycystic Kidney Disease: Inheritance, Pathophysiology, Prognosis, and Treatment","volume":"3","author":"Halvorson","year":"2010","journal-title":"Int. J. Nephrol. Renov. Dis."},{"key":"ref_300","doi-asserted-by":"crossref","unstructured":"Perico, N., Ruggenenti, P., Perna, A., Caroli, A., Trillini, M., Sironi, S., Pisani, A., Riccio, E., Imbriaco, M., and Dugo, M. (2019). Octreotide-LAR in Later-Stage Autosomal Dominant Polycystic Kidney Disease (ALADIN 2): A Randomized, Double-Blind, Placebo-Controlled, Multicenter Trial. PLoS Med., 16.","DOI":"10.1371\/journal.pmed.1002777"},{"key":"ref_301","doi-asserted-by":"crossref","first-page":"2683","DOI":"10.1007\/s40620-024-02145-w","article-title":"Octreotide-LAR in ADPKD Patients with Very Low Kidney Function: A Single-Center Real-Life Experience","volume":"37","author":"Riccio","year":"2024","journal-title":"J. Nephrol."},{"key":"ref_302","doi-asserted-by":"crossref","unstructured":"Jin, M., Shi, P., and Yu, Y. (2025). Octreotide Long-Acting Release in the Treatment of Autosomal Dominant Polycystic Kidney Disease: A Meta-Analysis. Front. Endocrinol., 16.","DOI":"10.3389\/fendo.2025.1709818"},{"key":"ref_303","unstructured":"Commissione Consultiva Tecnico Scientifica (2026, July 09). Agenzia Italiana del Farmaco (AIFA) Determinazione, (In Italian)."},{"key":"ref_304","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1053\/j.ajkd.2025.11.006","article-title":"KDOQI US Commentary on the KDIGO 2025 Clinical Practice Guideline for the Evaluation, Management, and Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD)","volume":"87","author":"Dahl","year":"2026","journal-title":"Am. J. Kidney Dis."},{"key":"ref_305","doi-asserted-by":"crossref","first-page":"1319","DOI":"10.1681\/ASN.0000001113","article-title":"Treatment of Autosomal Dominant Polycystic Kidney Disease: Integrating Clinical Practice Guidelines, Patient Perspectives, and Real-World Effectiveness","volume":"37","author":"Rangan","year":"2026","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_306","first-page":"1417","article-title":"A Secondary Analysis of Concurrent Use of Metformin and Tolvaptan in ADPKD Tolvaptan Trials","volume":"37","author":"Stanley","year":"2024","journal-title":"J. Nephrol."},{"key":"ref_307","doi-asserted-by":"crossref","first-page":"2020","DOI":"10.1093\/ndt\/gfx364","article-title":"Outcome of Autosomal Dominant Polycystic Kidney Disease Patients on Peritoneal Dialysis: A National Retrospective Study Based on Two French Registries (the French Language Peritoneal Dialysis Registry and the French Renal Epidemiology and Information Network)","volume":"33","author":"Sigogne","year":"2018","journal-title":"Nephrol. Dial. Transpl."},{"key":"ref_308","doi-asserted-by":"crossref","first-page":"2523","DOI":"10.1093\/ckj\/sfad155","article-title":"Impact of Peritoneal Dialysis Strategy on Technique and Patient Survival","volume":"16","author":"Sanchez","year":"2023","journal-title":"Clin. Kidney J."},{"key":"ref_309","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1016\/j.kint.2016.10.018","article-title":"Dietary Salt Restriction Is Beneficial to the Management of Autosomal Dominant Polycystic Kidney Disease","volume":"91","author":"Torres","year":"2017","journal-title":"Kidney Int."},{"key":"ref_310","unstructured":"(2026, June 25). Polycystic Kidney Disease (PKD)-Symptoms, Causes, Treatment|National Kidney Foundation. Available online: https:\/\/www.kidney.org\/kidney-topics\/polycystic-kidney-disease."},{"key":"ref_311","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1007\/s40264-015-0327-3","article-title":"Clinical Pattern of Tolvaptan-Associated Liver Injury in Subjects with Autosomal Dominant Polycystic Kidney Disease: Analysis of Clinical Trials Database","volume":"38","author":"Watkins","year":"2015","journal-title":"Drug Saf."},{"key":"ref_312","doi-asserted-by":"crossref","first-page":"4148","DOI":"10.1038\/s41467-019-11918-y","article-title":"Discovery and Preclinical Evaluation of Anti-miR-17 Oligonucleotide RGLS4326 for the Treatment of Polycystic Kidney Disease","volume":"10","author":"Lee","year":"2019","journal-title":"Nat. Commun."},{"key":"ref_313","doi-asserted-by":"crossref","first-page":"4765","DOI":"10.1038\/s41467-022-32543-2","article-title":"PKD1 and PKD2 mRNA Cis-Inhibition Drives Polycystic Kidney Disease Progression","volume":"13","author":"Lakhia","year":"2022","journal-title":"Nat. Commun."},{"key":"ref_314","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1016\/j.jpeds.2014.06.015","article-title":"Consensus Expert Recommendations for the Diagnosis and Management of Autosomal Recessive Polycystic Kidney Disease: Report of an International Conference","volume":"165","author":"Bissler","year":"2014","journal-title":"J. Pediatr."},{"key":"ref_315","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1053\/j.akdh.2023.01.005","article-title":"Autosomal Recessive Polycystic Kidney Disease: Diagnosis, Prognosis, and Management","volume":"30","author":"Burgmaier","year":"2023","journal-title":"Adv. Kidney Dis. Health"},{"key":"ref_316","doi-asserted-by":"crossref","first-page":"2785","DOI":"10.1007\/s00467-025-07129-x","article-title":"Fibrocystin\/Polyductin (FPC): New Functional Insights into ARPKD Pathogenesis Revealed by Informatics, Comparative Genomics, and Model Systems","volume":"41","author":"Gulati","year":"2026","journal-title":"Pediatr. Nephrol."},{"key":"ref_317","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1002\/ajmg.1320200311","article-title":"Infantile Polycystic Kidney Disease: Observations from Attempts at Prenatal Diagnosis","volume":"20","author":"Luthy","year":"1985","journal-title":"Am. J. Med. Genet."},{"key":"ref_318","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1007\/s00467-002-1021-0","article-title":"Autosomal Recessive Polycystic Kidney Disease: Outcomes from a Single-Center Experience","volume":"18","author":"Capisonda","year":"2003","journal-title":"Pediatr. Nephrol."},{"key":"ref_319","doi-asserted-by":"crossref","first-page":"1072","DOI":"10.1542\/peds.111.5.1072","article-title":"Autosomal Recessive Polycystic Kidney Disease: The Clinical Experience in North America","volume":"111","author":"Desmond","year":"2003","journal-title":"Pediatrics"},{"key":"ref_320","doi-asserted-by":"crossref","first-page":"903","DOI":"10.1016\/j.kint.2025.01.023","article-title":"A Risk Score to Predict Kidney Survival in Patients with Autosomal Recessive Polycystic Kidney Disease at the Age of Two Months","volume":"107","author":"Burgmaier","year":"2025","journal-title":"Kidney Int."},{"key":"ref_321","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1002\/uog.22121","article-title":"Perinatal and Infant Outcome of Fetuses with Prenatally Diagnosed Hyperechogenic Kidneys","volume":"57","author":"Yulia","year":"2021","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_322","first-page":"e59993","article-title":"Variable Clinical Presentations and Renal Outcome in Neonates with Autosomal Recessive Polycystic Kidney Disease","volume":"16","author":"Khin","year":"2024","journal-title":"Cureus"},{"key":"ref_323","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1111\/ahg.12535","article-title":"The Molecular Structure and Function of Fibrocystin, the Key Gene Product Implicated in Autosomal Recessive Polycystic Kidney Disease (ARPKD)","volume":"88","author":"Bannell","year":"2024","journal-title":"Ann. Hum. Genet."},{"key":"ref_324","doi-asserted-by":"crossref","first-page":"1025","DOI":"10.1038\/ng.3871","article-title":"Mutations in DZIP1L, Which Encodes a Ciliary-Transition-Zone Protein, Cause Autosomal Recessive Polycystic Kidney Disease","volume":"49","author":"Lu","year":"2017","journal-title":"Nat. Genet."},{"key":"ref_325","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1111\/j.1523-1755.2005.00148.x","article-title":"Clinical Consequences of PKHD1 Mutations in 164 Patients with Autosomal-Recessive Polycystic Kidney Disease (ARPKD)","volume":"67","author":"Bergmann","year":"2005","journal-title":"Kidney Int."},{"key":"ref_326","doi-asserted-by":"crossref","first-page":"972","DOI":"10.2215\/CJN.07141009","article-title":"Correlation of Kidney Function, Volume and Imaging Findings, and PKHD1 Mutations in 73 Patients with Autosomal Recessive Polycystic Kidney Disease","volume":"5","author":"Lukose","year":"2010","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"ref_327","doi-asserted-by":"crossref","first-page":"914","DOI":"10.1016\/j.kint.2018.10.031","article-title":"Monogenic Causes of Chronic Kidney Disease in Adults","volume":"95","author":"Connaughton","year":"2019","journal-title":"Kidney Int."},{"key":"ref_328","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1038\/s41436-020-01026-4","article-title":"Biallelic Inheritance of Hypomorphic PKD1 Variants Is Highly Prevalent in Very Early Onset Polycystic Kidney Disease","volume":"23","author":"Durkie","year":"2021","journal-title":"Genet. Med."},{"key":"ref_329","doi-asserted-by":"crossref","unstructured":"de Fallois, J., Sch\u00f6nauer, R., M\u00fcnch, J., Nagel, M., Popp, B., and Halbritter, J. (2021). Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics. Front. Genet., 12.","DOI":"10.3389\/fgene.2021.682565"},{"key":"ref_330","doi-asserted-by":"crossref","first-page":"1449","DOI":"10.1016\/j.ekir.2023.04.006","article-title":"Clinical Characteristics and Courses of Patients with Autosomal Recessive Polycystic Kidney Disease-Mimicking Phenocopies","volume":"8","author":"Halawi","year":"2023","journal-title":"Kidney Int. Rep."},{"key":"ref_331","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.1681\/ASN.2009101070","article-title":"Incompletely Penetrant PKD1 Alleles Mimic the Renal Manifestations of ARPKD","volume":"21","author":"Vujic","year":"2010","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_332","doi-asserted-by":"crossref","first-page":"18274","DOI":"10.1038\/s41598-021-97046-4","article-title":"Cystin Genetic Variants Cause Autosomal Recessive Polycystic Kidney Disease Associated with Altered Myc Expression","volume":"11","author":"Yang","year":"2021","journal-title":"Sci. Rep."},{"key":"ref_333","unstructured":"Adam, M.P., Bick, S., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., and Amemiya, A. (1993). Autosomal Recessive Polycystic Kidney Disease\u2013PKHD1. GeneReviews\u00ae, University of Washington, Seattle."},{"key":"ref_334","doi-asserted-by":"crossref","first-page":"1068","DOI":"10.34067\/KID.0002522020","article-title":"Adult Inactivation of the Recessive Polycystic Kidney Disease Gene Causes Polycystic Liver Disease","volume":"1","author":"Besse","year":"2020","journal-title":"Kidney360"},{"key":"ref_335","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1681\/ASN.2008020159","article-title":"Timing of Onset of CKD-Related Metabolic Complications","volume":"20","author":"Moranne","year":"2009","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_336","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1016\/j.jpeds.2015.12.079","article-title":"Chronic Kidney Disease in Children (CKiD) Study Kidney Disease Progression in Autosomal Recessive Polycystic Kidney Disease","volume":"171","author":"Dell","year":"2016","journal-title":"J. Pediatr."},{"key":"ref_337","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1007\/s00467-013-2706-2","article-title":"ARPKD and Early Manifestations of ADPKD: The Original Polycystic Kidney Disease and Phenocopies","volume":"30","author":"Bergmann","year":"2015","journal-title":"Pediatr. Nephrol."},{"key":"ref_338","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1111\/j.1651-2227.1996.tb14056.x","article-title":"Autosomal Recessive Polycystic Kidney Disease in 115 Children: Clinical Presentation, Course and Influence of Gender. Arbeitsgemeinschaft F\u00fcr P\u00e4diatrische, Nephrologie","volume":"85","author":"Zerres","year":"1996","journal-title":"Acta Paediatr."},{"key":"ref_339","doi-asserted-by":"crossref","first-page":"e833","DOI":"10.1542\/peds.2013-3646","article-title":"Autosomal Recessive Polycystic Kidney Disease: A Hepatorenal Fibrocystic Disorder with Pleiotropic Effects","volume":"134","author":"Hartung","year":"2014","journal-title":"Pediatrics"},{"key":"ref_340","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1053\/j.gastro.2012.09.056","article-title":"Characteristics of Congenital Hepatic Fibrosis in a Large Cohort of Patients with Autosomal Recessive Polycystic Kidney Disease","volume":"144","author":"Lukose","year":"2013","journal-title":"Gastroenterology"},{"key":"ref_341","unstructured":"Subramanian, S., Leslie, S.W., and Ahmad, T. (2026). Autosomal Recessive Polycystic Kidney Disease. StatPearls, StatPearls Publishing."},{"key":"ref_342","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/0301-5629(90)90065-K","article-title":"Prenatal Diagnosis by Ultrasound in Pregnancies at Risk for Autosomal Recessive Polycystic Kidney Disease","volume":"16","author":"Reuss","year":"1990","journal-title":"Ultrasound Med. Biol."},{"key":"ref_343","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1007\/s004670050281","article-title":"Autosomal Recessive Polycystic Kidney Disease: Long-Term Outcome of Neonatal Survivors","volume":"11","author":"Roy","year":"1997","journal-title":"Pediatr. Nephrol."},{"key":"ref_344","doi-asserted-by":"crossref","first-page":"294","DOI":"10.2298\/SARH08S4294R","article-title":"Polycystic kidney disease--autopsy review from the period 1987\u20132007","volume":"136","author":"Savin","year":"2008","journal-title":"Srp. Arh. Celok. Lek."},{"key":"ref_345","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1007\/BF00859625","article-title":"Autosomal Recessive Polycystic Kidney Disease","volume":"3","author":"Kaplan","year":"1989","journal-title":"Pediatr. Nephrol."},{"key":"ref_346","doi-asserted-by":"crossref","first-page":"7919","DOI":"10.1038\/s41598-019-43488-w","article-title":"Clinical Courses and Complications of Young Adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD)","volume":"9","author":"Burgmaier","year":"2019","journal-title":"Sci. Rep."},{"key":"ref_347","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1038\/ng833","article-title":"The Gene Mutated in Autosomal Recessive Polycystic Kidney Disease Encodes a Large, Receptor-like Protein","volume":"30","author":"Ward","year":"2002","journal-title":"Nat. Genet."},{"key":"ref_348","doi-asserted-by":"crossref","first-page":"2311","DOI":"10.1073\/pnas.0400073101","article-title":"PKHD1 Protein Encoded by the Gene for Autosomal Recessive Polycystic Kidney Disease Associates with Basal Bodies and Primary Cilia in Renal Epithelial Cells","volume":"101","author":"Zhang","year":"2004","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_349","doi-asserted-by":"crossref","first-page":"3241","DOI":"10.1128\/MCB.00072-07","article-title":"Fibrocystin\/Polyductin, Found in the Same Protein Complex with Polycystin-2, Regulates Calcium Responses in Kidney Epithelia","volume":"27","author":"Wang","year":"2007","journal-title":"Mol. Cell Biol."},{"key":"ref_350","doi-asserted-by":"crossref","first-page":"1130","DOI":"10.1016\/j.kint.2017.04.027","article-title":"A Novel Model of Autosomal Recessive Polycystic Kidney Questions the Role of the Fibrocystin C-Terminus in Disease Mechanism","volume":"92","author":"Outeda","year":"2017","journal-title":"Kidney Int."},{"key":"ref_351","doi-asserted-by":"crossref","first-page":"1345","DOI":"10.1111\/j.1523-1755.2004.00844.x","article-title":"Polyductin, the PKHD1 Gene Product, Comprises Isoforms Expressed in Plasma Membrane, Primary Cilium, and Cytoplasm","volume":"66","author":"Menezes","year":"2004","journal-title":"Kidney Int."},{"key":"ref_352","doi-asserted-by":"crossref","first-page":"R69","DOI":"10.1186\/gb-2004-5-9-r69","article-title":"Function-Informed Transcriptome Analysis of Drosophila Renal Tubule","volume":"5","author":"Wang","year":"2004","journal-title":"Genome Biol."},{"key":"ref_353","doi-asserted-by":"crossref","first-page":"2266","DOI":"10.1681\/ASN.2010111173","article-title":"Epitope-Tagged Pkhd1 Tracks the Processing, Secretion, and Localization of Fibrocystin","volume":"22","author":"Bakeberg","year":"2011","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_354","doi-asserted-by":"crossref","first-page":"3306","DOI":"10.1093\/hmg\/ddq233","article-title":"Polycystic Kidney Disease Protein Fibrocystin Localizes to the Mitotic Spindle and Regulates Spindle Bipolarity","volume":"19","author":"Zhang","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"ref_355","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1038\/sj.ki.5002294","article-title":"A Mouse Model of Autosomal Recessive Polycystic Kidney Disease with Biliary Duct and Proximal Tubule Dilatation","volume":"72","author":"Woollard","year":"2007","journal-title":"Kidney Int."},{"key":"ref_356","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1681\/ASN.2007070770","article-title":"Fibrocystin\/Polyductin Modulates Renal Tubular Formation by Regulating Polycystin-2 Expression and Function","volume":"19","author":"Kim","year":"2008","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_357","doi-asserted-by":"crossref","first-page":"1303","DOI":"10.1016\/j.gastro.2003.09.001","article-title":"Defects in Cholangiocyte Fibrocystin Expression and Ciliary Structure in the PCK Rat","volume":"125","author":"Masyuk","year":"2003","journal-title":"Gastroenterology"},{"key":"ref_358","first-page":"467","article-title":"PKHD1 Gene Silencing May Cause Cell Abnormal Proliferation through Modulation of Intracellular Calcium in Autosomal Recessive Polycystic Kidney Disease","volume":"40","author":"Yang","year":"2007","journal-title":"J. Biochem. Mol. Biol."},{"key":"ref_359","doi-asserted-by":"crossref","first-page":"34357","DOI":"10.1074\/jbc.M606740200","article-title":"Proteolytic Cleavage and Nuclear Translocation of Fibrocystin Is Regulated by Intracellular Ca2+ and Activation of Protein Kinase C","volume":"281","author":"Hiesberger","year":"2006","journal-title":"J. Biol. Chem."},{"key":"ref_360","doi-asserted-by":"crossref","first-page":"942","DOI":"10.1093\/hmg\/ddm039","article-title":"Polyductin Undergoes Notch-like Processing and Regulated Release from Primary Cilia","volume":"16","author":"Kaimori","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"ref_361","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1038\/s41581-019-0143-6","article-title":"Structure and Function of Polycystins: Insights into Polycystic Kidney Disease","volume":"15","author":"Douguet","year":"2019","journal-title":"Nat. Rev. Nephrol."},{"key":"ref_362","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1126\/science.abq7317","article-title":"Cilia Function as Calcium-Mediated Mechanosensors That Instruct Left-Right Asymmetry","volume":"379","author":"Djenoune","year":"2023","journal-title":"Science"},{"key":"ref_363","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1126\/science.abq8148","article-title":"Immotile Cilia Mechanically Sense the Direction of Fluid Flow for Left-Right Determination","volume":"379","author":"Katoh","year":"2023","journal-title":"Science"},{"key":"ref_364","doi-asserted-by":"crossref","first-page":"2657","DOI":"10.1007\/s00467-022-05441-4","article-title":"Detection of DZIP1L Mutations by Whole-Exome Sequencing in Consanguineous Families with Polycystic Kidney Disease","volume":"37","author":"Hertz","year":"2022","journal-title":"Pediatr. Nephrol."},{"key":"ref_365","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1681\/ASN.2008060564","article-title":"Characterization of PKD Protein-Positive Exosome-like Vesicles","volume":"20","author":"Hogan","year":"2009","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_366","doi-asserted-by":"crossref","first-page":"1940","DOI":"10.1093\/hmg\/ddm141","article-title":"Genetic Interaction Studies Link Autosomal Dominant and Recessive Polycystic Kidney Disease in a Common Pathway","volume":"16","author":"Menezes","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"ref_367","doi-asserted-by":"crossref","first-page":"2113","DOI":"10.1681\/ASN.2019020150","article-title":"Synergistic Genetic Interactions between Pkhd1 and Pkd1 Result in an ARPKD-Like Phenotype in Murine Models","volume":"30","author":"Olson","year":"2019","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_368","doi-asserted-by":"crossref","first-page":"2246","DOI":"10.1097\/01.ASN.0000030392.19694.9D","article-title":"Identification and Characterization of Pkhd1, the Mouse Orthologue of the Human ARPKD Gene","volume":"13","author":"Nagasawa","year":"2002","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_369","doi-asserted-by":"crossref","first-page":"1113","DOI":"10.1002\/hep.20655","article-title":"A Mouse Model for Cystic Biliary Dysgenesis in Autosomal Recessive Polycystic Kidney Disease (ARPKD)","volume":"41","author":"Moser","year":"2005","journal-title":"Hepatology"},{"key":"ref_370","doi-asserted-by":"crossref","first-page":"417","DOI":"10.2353\/ajpath.2008.070381","article-title":"Biliary and Pancreatic Dysgenesis in Mice Harboring a Mutation in Pkhd1","volume":"172","author":"Gallagher","year":"2008","journal-title":"Am. J. Pathol."},{"key":"ref_371","doi-asserted-by":"crossref","first-page":"6513","DOI":"10.1038\/s41467-023-42196-4","article-title":"Fibrocystin\/Polyductin Releases a C-Terminal Fragment That Translocates into Mitochondria and Suppresses Cystogenesis","volume":"14","author":"Walker","year":"2023","journal-title":"Nat. Commun."},{"key":"ref_372","doi-asserted-by":"crossref","first-page":"31559","DOI":"10.1074\/jbc.M805452200","article-title":"Polycystin-2 Expression Is Regulated by a PC2-Binding Domain in the Intracellular Portion of Fibrocystin","volume":"283","author":"Kim","year":"2008","journal-title":"J. Biol. Chem."},{"key":"ref_373","doi-asserted-by":"crossref","first-page":"14633","DOI":"10.1111\/jcmm.16014","article-title":"The Carboxy-Terminus of the Human ARPKD Protein Fibrocystin Can Control STAT3 Signalling by Regulating SRC-Activation","volume":"24","author":"Dafinger","year":"2020","journal-title":"J. Cell Mol. Med."},{"key":"ref_374","doi-asserted-by":"crossref","first-page":"7733","DOI":"10.1038\/s41598-017-08284-4","article-title":"NEDD4-Family E3 Ligase Dysfunction Due to PKHD1\/Pkhd1 Defects Suggests a Mechanistic Model for ARPKD Pathobiology","volume":"7","author":"Kaimori","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_375","doi-asserted-by":"crossref","unstructured":"Harafuji, N., Yang, C., Wu, M., Thiruvengadam, G., Gordish-Dressman, H., Thompson, R.G., Bell, P.D., Rosenberg, A.Z., Dafinger, C., and Liebau, M.C. (2023). Differential Regulation of MYC Expression by PKHD1\/Pkhd1 in Human and Mouse Kidneys: Phenotypic Implications for Recessive Polycystic Kidney Disease. Front. Cell Dev. Biol., 11.","DOI":"10.3389\/fcell.2023.1270980"},{"key":"ref_376","doi-asserted-by":"crossref","unstructured":"Wang, S., Wu, M., Yao, G., Zhang, J., and Zhou, J. (2014). The Cytoplasmic Tail of FPC Antagonizes the Full-Length Protein in the Regulation of mTOR Pathway. PLoS ONE, 9.","DOI":"10.1371\/journal.pone.0095630"},{"key":"ref_377","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1016\/j.kint.2023.05.027","article-title":"A Novel ARPKD Mouse Model with Near-Complete Deletion of the Polycystic Kidney and Hepatic Disease 1 (Pkhd1) Genomic Locus Presents with Multiple Phenotypes but Not Renal Cysts","volume":"104","author":"Ishimoto","year":"2023","journal-title":"Kidney Int."},{"key":"ref_378","doi-asserted-by":"crossref","first-page":"e23008","DOI":"10.1096\/fj.202300100R","article-title":"Cystin Is Required for Maintaining Fibrocystin (FPC) Levels and Safeguarding Proteome Integrity in Mouse Renal Epithelial Cells: A Mechanistic Connection between the Kidney Defects in Cpk Mice and Human ARPKD","volume":"37","author":"Zhang","year":"2023","journal-title":"FASEB J."},{"key":"ref_379","doi-asserted-by":"crossref","unstructured":"Ziegler, W.H., Soetje, B., Marten, L.P., Wiese, J., Burute, M., and Haffner, D. (2020). Fibrocystin Is Essential to Cellular Control of Adhesion and Epithelial Morphogenesis. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21145140"},{"key":"ref_380","doi-asserted-by":"crossref","first-page":"C831","DOI":"10.1152\/ajpcell.00032.2009","article-title":"Abnormalities in Focal Adhesion Complex Formation, Regulation, and Function in Human Autosomal Recessive Polycystic Kidney Disease Epithelial Cells","volume":"298","author":"Israeli","year":"2010","journal-title":"Am. J. Physiol. Cell Physiol."},{"key":"ref_381","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/bs.ctdb.2025.01.005","article-title":"Patterning the Nephron: Forming an Axial Polarity with Distal and Proximal Specialization","volume":"163","author":"Vanslambrouck","year":"2025","journal-title":"Curr. Top. Dev. Biol."},{"key":"ref_382","doi-asserted-by":"crossref","first-page":"4398","DOI":"10.1091\/mbc.e04-11-1019","article-title":"Inhibition of Pkhd1 Impairs Tubulomorphogenesis of Cultured IMCD Cells","volume":"16","author":"Mai","year":"2005","journal-title":"Mol. Biol. Cell"},{"key":"ref_383","doi-asserted-by":"crossref","first-page":"066006","DOI":"10.1088\/1478-3975\/ab39fa","article-title":"The Transmembrane Protein Fibrocystin\/Polyductin Regulates Cell Mechanics and Cell Motility","volume":"16","author":"Puder","year":"2019","journal-title":"Phys. Biol."},{"key":"ref_384","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1002\/hep.28382","article-title":"Macrophage Recruitment by Fibrocystin-Defective Biliary Epithelial Cells Promotes Portal Fibrosis in Congenital Hepatic Fibrosis","volume":"63","author":"Locatelli","year":"2016","journal-title":"Hepatology"},{"key":"ref_385","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.jhep.2019.02.024","article-title":"Loss of Fibrocystin Promotes Interleukin-8-Dependent Proliferation and CTGF Production of Biliary Epithelium","volume":"71","author":"Tsunoda","year":"2019","journal-title":"J. Hepatol."},{"key":"ref_386","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.ydbio.2009.10.025","article-title":"The Zn Finger Protein Iguana Impacts Hedgehog Signaling by Promoting Ciliogenesis","volume":"337","author":"Glazer","year":"2010","journal-title":"Dev. Biol."},{"key":"ref_387","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1681\/ASN.V114760","article-title":"Proximal Tubular Cysts in Fetal Human Autosomal Recessive Polycystic Kidney Disease","volume":"11","author":"Nakanishi","year":"2000","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_388","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1007\/s00467-007-0735-4","article-title":"Kidney Cysts, Pancreatic Cysts, and Biliary Disease in a Mouse Model of Autosomal Recessive Polycystic Kidney Disease","volume":"23","author":"Williams","year":"2008","journal-title":"Pediatr. Nephrol."},{"key":"ref_389","doi-asserted-by":"crossref","first-page":"1819","DOI":"10.1093\/ndt\/gfn744","article-title":"Activation of the AKT\/mTOR Pathway in Autosomal Recessive Polycystic Kidney Disease (ARPKD)","volume":"24","author":"Fischer","year":"2009","journal-title":"Nephrol. Dial. Transpl."},{"key":"ref_390","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1159\/000314380","article-title":"The mTOR Pathway Is Activated in Human Autosomal-Recessive Polycystic Kidney Disease","volume":"33","author":"Becker","year":"2010","journal-title":"Kidney Blood Press. Res."},{"key":"ref_391","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1016\/j.molmed.2010.05.004","article-title":"Cystic Kidney Disease: The Role of Wnt Signaling","volume":"16","author":"Lancaster","year":"2010","journal-title":"Trends Mol. Med."},{"key":"ref_392","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1016\/j.bbadis.2018.11.003","article-title":"Atmin Modulates Pkhd1 Expression and May Mediate Autosomal Recessive Polycystic Kidney Disease (ARPKD) Through Altered Non-Canonical Wnt\/Planar Cell Polarity (PCP) Signalling","volume":"1865","author":"Richards","year":"2019","journal-title":"Biochim. Biophys. Acta Mol. Basis Dis."},{"key":"ref_393","doi-asserted-by":"crossref","first-page":"167309","DOI":"10.1016\/j.bbadis.2024.167309","article-title":"Next Generation Sequencing Identifies WNT Signalling as a Significant Pathway in Autosomal Recessive Polycystic Kidney Disease (ARPKD) Manifestation and May Be Linked to Disease Severity","volume":"1870","author":"Richards","year":"2024","journal-title":"Biochim. Biophys. Acta Mol. Basis Dis."},{"key":"ref_394","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1053\/j.ajkd.2025.01.022","article-title":"Polycystic Kidney Disease in Children: The Current Status and the Next Horizon","volume":"86","author":"Cadnapaphornchai","year":"2025","journal-title":"Am. J. Kidney Dis."},{"key":"ref_395","doi-asserted-by":"crossref","first-page":"4225","DOI":"10.1242\/dev.125.21.4225","article-title":"Wnt-4 Is a Mesenchymal Signal for Epithelial Transformation of Metanephric Mesenchyme in the Developing Kidney","volume":"125","author":"Kispert","year":"1998","journal-title":"Development"},{"key":"ref_396","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1016\/j.devcel.2005.05.016","article-title":"Wnt9b Plays a Central Role in the Regulation of Mesenchymal to Epithelial Transitions Underlying Organogenesis of the Mammalian Urogenital System","volume":"9","author":"Carroll","year":"2005","journal-title":"Dev. Cell"},{"key":"ref_397","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1038\/ng.400","article-title":"Wnt9b Signaling Regulates Planar Cell Polarity and Kidney Tubule Morphogenesis","volume":"41","author":"Karner","year":"2009","journal-title":"Nat. Genet."},{"key":"ref_398","doi-asserted-by":"crossref","first-page":"1247","DOI":"10.1242\/dev.057646","article-title":"Canonical Wnt9b Signaling Balances Progenitor Cell Expansion and Differentiation during Kidney Development","volume":"138","author":"Karner","year":"2011","journal-title":"Development"},{"key":"ref_399","doi-asserted-by":"crossref","first-page":"F549","DOI":"10.1152\/ajprenal.00566.2009","article-title":"Planar Cell Polarity Pathway Regulates Actin Rearrangement, Cell Shape, Motility, and Nephrin Distribution in Podocytes","volume":"300","author":"Babayeva","year":"2011","journal-title":"Am. J. Physiol. Ren. Physiol."},{"key":"ref_400","doi-asserted-by":"crossref","first-page":"1240","DOI":"10.1046\/j.1523-1755.2001.00963.x","article-title":"A Novel Inhibitor of Tumor Necrosis Factor-Alpha Converting Enzyme Ameliorates Polycystic Kidney Disease","volume":"60","author":"Dell","year":"2001","journal-title":"Kidney Int."},{"key":"ref_401","doi-asserted-by":"crossref","first-page":"109487","DOI":"10.1016\/j.isci.2024.109487","article-title":"Defects of Renal Tubular Homeostasis and Cystogenesis in the Pkhd1 Knockout","volume":"27","author":"Fox","year":"2024","journal-title":"iScience"},{"key":"ref_402","doi-asserted-by":"crossref","first-page":"e70191","DOI":"10.14814\/phy2.70191","article-title":"Reduction of Elevated Gli3 Does Not Alter the Progression of Autosomal Recessive Polycystic Kidney Disease","volume":"13","author":"Russell","year":"2025","journal-title":"Physiol. Rep."},{"key":"ref_403","doi-asserted-by":"crossref","first-page":"e2308820","DOI":"10.1002\/advs.202308820","article-title":"The ARPKD Protein DZIP1L Regulates Ciliary Protein Entry by Modulating the Architecture and Function of Ciliary Transition Fibers","volume":"11","author":"Chen","year":"2024","journal-title":"Adv. Sci."},{"key":"ref_404","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1016\/j.kint.2026.01.023","article-title":"Disruption of the Human Cystin-1 Myristoyl-Electrostatic Switch Causes Polycystic Kidney Disease That Phenocopies Autosomal Recessive Polycystic Kidney Disease","volume":"109","author":"Yang","year":"2026","journal-title":"Kidney Int."},{"key":"ref_405","doi-asserted-by":"crossref","first-page":"F492","DOI":"10.1152\/ajprenal.00238.2015","article-title":"The Cpk Model of Recessive PKD Shows Glutamine Dependence Associated with the Production of the Oncometabolite 2-Hydroxyglutarate","volume":"309","author":"Hwang","year":"2015","journal-title":"Am. J. Physiol. Ren. Physiol."},{"key":"ref_406","doi-asserted-by":"crossref","first-page":"1739","DOI":"10.1007\/s00467-012-2300-z","article-title":"Clinical Practice Recommendations for the Care of Infants with Stage 5 Chronic Kidney Disease (CKD5)","volume":"28","author":"Zurowska","year":"2013","journal-title":"Pediatr. Nephrol."},{"key":"ref_407","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1001\/jamapediatrics.2017.3938","article-title":"Perinatal Diagnosis, Management, and Follow-up of Cystic Renal Diseases: A Clinical Practice Recommendation with Systematic Literature Reviews","volume":"172","author":"Gimpel","year":"2018","journal-title":"JAMA Pediatr."},{"key":"ref_408","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1053\/j.ajkd.2019.10.009","article-title":"Maintenance Peritoneal Dialysis in Children with Autosomal Recessive Polycystic Kidney Disease: A Comparative Cohort Study of the International Pediatric Peritoneal Dialysis Network Registry","volume":"75","author":"Akarkach","year":"2020","journal-title":"Am. J. Kidney Dis."},{"key":"ref_409","doi-asserted-by":"crossref","unstructured":"Mekahli, D., Liebau, M.C., Cadnapaphornchai, M.A., Goldstein, S.L., Greenbaum, L.A., Litwin, M., Seeman, T., Schaefer, F., and Guay-Woodford, L.M. (2023). Design of Two Ongoing Clinical Trials of Tolvaptan in the Treatment of Pediatric Patients with Autosomal Recessive Polycystic Kidney Disease. BMC Nephrol., 24.","DOI":"10.1186\/s12882-023-03072-x"},{"key":"ref_410","doi-asserted-by":"crossref","first-page":"188","DOI":"10.5527\/wjn.v6.i4.188","article-title":"Tesevatinib Ameliorates Progression of Polycystic Kidney Disease in Rodent Models of Autosomal Recessive Polycystic Kidney Disease","volume":"6","author":"Sweeney","year":"2017","journal-title":"World J. Nephrol."},{"key":"ref_411","unstructured":"(2026, June 25). Patient Education: Polycystic Kidney Disease (Beyond the Basics)-UpToDate. Available online: https:\/\/www.uptodate.com\/contents\/polycystic-kidney-disease-beyond-the-basics\/print."},{"key":"ref_412","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1681\/ASN.2008050456","article-title":"Nephronophthisis: Disease Mechanisms of a Ciliopathy","volume":"20","author":"Hildebrandt","year":"2009","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_413","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1007\/s00467-010-1585-z","article-title":"Nephronophthisis","volume":"26","author":"Wolf","year":"2011","journal-title":"Pediatr. Nephrol."},{"key":"ref_414","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1042\/BST20200791","article-title":"Molecular Genetics of Renal Ciliopathies","volume":"49","author":"Olinger","year":"2021","journal-title":"Biochem. Soc. Trans."},{"key":"ref_415","doi-asserted-by":"crossref","first-page":"1977","DOI":"10.1007\/s00467-023-06174-8","article-title":"Nephronophthisis: A Pathological and Genetic Perspective","volume":"39","author":"Wolf","year":"2024","journal-title":"Pediatr. Nephrol."},{"key":"ref_416","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1007\/BF00863431","article-title":"Ultrasound Findings in Juvenile Nephronophthisis","volume":"10","author":"Blowey","year":"1996","journal-title":"Pediatr. Nephrol."},{"key":"ref_417","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1136\/jmg.35.4.279","article-title":"Molecular Studies in Finnish Patients with Familial Juvenile Nephronophthisis Exclude a Founder Effect and Support a Common Mutation Causing Mechanism","volume":"35","author":"Sankila","year":"1998","journal-title":"J. Med. Genet."},{"key":"ref_418","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1038\/sj.ejhg.5200268","article-title":"Nephronophthisis in Finland: Epidemiology and Comparison of Genetically Classified Subgroups","volume":"7","author":"Koskimies","year":"1999","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_419","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1681\/ASN.2007040490","article-title":"NEK8 Mutations Affect Ciliary and Centrosomal Localization and May Cause Nephronophthisis","volume":"19","author":"Otto","year":"2008","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_420","doi-asserted-by":"crossref","first-page":"1239","DOI":"10.1038\/ki.2011.284","article-title":"Genotype-Phenotype Correlation in 440 Patients with NPHP-Related Ciliopathies","volume":"80","author":"Chaki","year":"2011","journal-title":"Kidney Int."},{"key":"ref_421","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1093\/hmg\/5.3.367","article-title":"Large Homozygous Deletions of the 2q13 Region Are a Major Cause of Juvenile Nephronophthisis","volume":"5","author":"Konrad","year":"1996","journal-title":"Hum. Mol. Genet."},{"key":"ref_422","doi-asserted-by":"crossref","first-page":"778","DOI":"10.1086\/302819","article-title":"Characterization of the NPHP1 Locus: Mutational Mechanism Involved in Deletions in Familial Juvenile Nephronophthisis","volume":"66","author":"Saunier","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"ref_423","first-page":"564","article-title":"Nephronophthisis. A Primary Tubular Basement Membrane Defect","volume":"55","author":"Cohen","year":"1986","journal-title":"Lab. Investig."},{"key":"ref_424","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1146\/annurev-genom-121321-093528","article-title":"The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies","volume":"23","author":"Gomez","year":"2022","journal-title":"Annu. Rev. Genom. Hum. Genet."},{"key":"ref_425","doi-asserted-by":"crossref","first-page":"1382","DOI":"10.1038\/ng.2452","article-title":"Vertebrate Kidney Tubules Elongate Using a Planar Cell Polarity-Dependent, Rosette-Based Mechanism of Convergent Extension","volume":"44","author":"Lienkamp","year":"2012","journal-title":"Nat. Genet."},{"key":"ref_426","doi-asserted-by":"crossref","first-page":"1700","DOI":"10.1097\/01.ASN.0000128291.30249.D0","article-title":"The Invs Gene Encodes a Microtubule-Associated Protein","volume":"15","author":"Kribben","year":"2004","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_427","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1172\/JCI40076","article-title":"Individuals with Mutations in XPNPEP3, Which Encodes a Mitochondrial Protein, Develop a Nephronophthisis-like Nephropathy","volume":"120","author":"Liu","year":"2010","journal-title":"J. Clin. Investig."},{"key":"ref_428","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1681\/ASN.2012101034","article-title":"Mutation of the Mg2+ Transporter SLC41A1 Results in a Nephronophthisis-like Phenotype","volume":"24","author":"Hurd","year":"2013","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_429","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/j.ajhg.2016.12.011","article-title":"Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis","volume":"100","author":"Macia","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"ref_430","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1016\/j.cell.2012.06.028","article-title":"Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling","volume":"150","author":"Chaki","year":"2012","journal-title":"Cell"},{"key":"ref_431","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/j.molcel.2013.08.006","article-title":"NEK8 Links the ATR-Regulated Replication Stress Response and S Phase CDK Activity to Renal Ciliopathies","volume":"51","author":"Choi","year":"2013","journal-title":"Mol. Cell"},{"key":"ref_432","doi-asserted-by":"crossref","first-page":"2573","DOI":"10.1681\/ASN.2013050565","article-title":"Renal-Retinal Ciliopathy Gene Sdccag8 Regulates DNA Damage Response Signaling","volume":"25","author":"Airik","year":"2014","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_433","doi-asserted-by":"crossref","first-page":"3657","DOI":"10.1172\/JCI80657","article-title":"DNA Replication Stress Underlies Renal Phenotypes in CEP290-Associated Joubert Syndrome","volume":"125","author":"Slaats","year":"2015","journal-title":"J. Clin. Investig."},{"key":"ref_434","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1038\/ng1097-149","article-title":"A Novel Gene Encoding an SH3 Domain Protein Is Mutated in Nephronophthisis Type 1","volume":"17","author":"Hildebrandt","year":"1997","journal-title":"Nat. Genet."},{"key":"ref_435","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1007\/BF00859626","article-title":"Infantile Chronic Tubulo-Interstitial Nephritis with Cortical Microcysts: Variant of Nephronophthisis or New Disease Entity?","volume":"3","author":"Gagnadoux","year":"1989","journal-title":"Pediatr. Nephrol."},{"key":"ref_436","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1038\/ng996","article-title":"The Gene Mutated in Juvenile Nephronophthisis Type 4 Encodes a Novel Protein That Interacts with Nephrocystin","volume":"32","author":"Mollet","year":"2002","journal-title":"Nat. Genet."},{"key":"ref_437","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1038\/ng2039","article-title":"The Ciliary Gene RPGRIP1L Is Mutated in Cerebello-Oculo-Renal Syndrome (Joubert Syndrome Type B) and Meckel Syndrome","volume":"39","author":"Delous","year":"2007","journal-title":"Nat. Genet."},{"key":"ref_438","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1167\/iovs.10-5221","article-title":"IQCB1 Mutations in Patients with Leber Congenital Amaurosis","volume":"52","author":"Koenekoop","year":"2011","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_439","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1038\/ng1786","article-title":"The Centrosomal Protein Nephrocystin-6 Is Mutated in Joubert Syndrome and Activates Transcription Factor ATF4","volume":"38","author":"Sayer","year":"2006","journal-title":"Nat. Genet."},{"key":"ref_440","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1038\/ng1805","article-title":"Mutations in CEP290, Which Encodes a Centrosomal Protein, Cause Pleiotropic Forms of Joubert Syndrome","volume":"38","author":"Valente","year":"2006","journal-title":"Nat. Genet."},{"key":"ref_441","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1016\/S1474-4422(13)70136-4","article-title":"Joubert Syndrome: Congenital Cerebellar Ataxia with the Molar Tooth","volume":"12","author":"Romani","year":"2013","journal-title":"Lancet Neurol."},{"key":"ref_442","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1038\/ng2069","article-title":"Mutations in the Gene Encoding the Basal Body Protein RPGRIP1L, a Nephrocystin-4 Interactor, Cause Joubert Syndrome","volume":"39","author":"Arts","year":"2007","journal-title":"Nat. Genet."},{"key":"ref_443","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1136\/jmg.2009.066613","article-title":"Hypomorphic Mutations in Meckelin (MKS3\/TMEM67) Cause Nephronophthisis with Liver Fibrosis (NPHP11)","volume":"46","author":"Otto","year":"2009","journal-title":"J. Med. Genet."},{"key":"ref_444","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1093\/hmg\/ddl459","article-title":"The Meckel-Gruber Syndrome Proteins MKS1 and Meckelin Interact and Are Required for Primary Cilium Formation","volume":"16","author":"Dawe","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"ref_445","doi-asserted-by":"crossref","unstructured":"Ruijmbeek, C.W.B., Ruizenaar, S., van der Linde, H.C., Nollet, E.E., Doff, W.A.S., Bogaard, V.C.S., de Pee, M., Ferraro, F., Rodenburg, R.J., and Schipper, H.S. (2025). Bi-Allelic Variants in the Aminopeptidase XPNPEP3 Cause Mitochondrial Disease with Pediatric Cardiomyopathy. medRxiv.","DOI":"10.1101\/2025.01.11.25320052"},{"key":"ref_446","first-page":"509","article-title":"Nephronophthisis (Medullary Cystic Disease of the Kidney). A Study Using Electron Microscopy, Immunofluorescence, and a Review of the Morphological Findings","volume":"35","author":"Zollinger","year":"1980","journal-title":"Helv. Paediatr. Acta"},{"key":"ref_447","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1007\/BF00430668","article-title":"The Nephronophthisis Complex. A Clinicopathologic Study in Children","volume":"394","author":"Waldherr","year":"1982","journal-title":"Virchows Arch. A Pathol. Anat. Histol."},{"key":"ref_448","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/j.humpath.2018.06.021","article-title":"Fluorescence in Situ Hybridization for the Diagnosis of NPHP1 Deletion-Related Nephronophthisis on Renal Biopsy","volume":"81","author":"Larsen","year":"2018","journal-title":"Hum. Pathol."},{"key":"ref_449","doi-asserted-by":"crossref","first-page":"1855","DOI":"10.1681\/ASN.2006121344","article-title":"Nephronophthisis-Associated Ciliopathies","volume":"18","author":"Hildebrandt","year":"2007","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_450","unstructured":"(2026, June 25). Nephronophthisis-an Overview|ScienceDirect Topics. Available online: https:\/\/www.sciencedirect.com\/topics\/medicine-and-dentistry\/nephronophthisis."},{"key":"ref_451","doi-asserted-by":"crossref","first-page":"1974","DOI":"10.2215\/CJN.01280217","article-title":"Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies","volume":"12","author":"Kranz","year":"2017","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"ref_452","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1007\/s004670050164","article-title":"Mechanism Underlying Early Anaemia in Children with Familial Juvenile Nephronophthisis","volume":"10","author":"Kivivuori","year":"1996","journal-title":"Pediatr. Nephrol."},{"key":"ref_453","doi-asserted-by":"crossref","first-page":"1701","DOI":"10.1007\/s00467-018-3958-7","article-title":"Clinical and Genetic Analyses of a Dutch Cohort of 40 Patients with a Nephronophthisis-Related Ciliopathy","volume":"33","author":"Stokman","year":"2018","journal-title":"Pediatr. Nephrol."},{"key":"ref_454","doi-asserted-by":"crossref","first-page":"1772","DOI":"10.1681\/ASN.2017111200","article-title":"NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD","volume":"29","author":"Snoek","year":"2018","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_455","doi-asserted-by":"crossref","first-page":"15398","DOI":"10.1074\/jbc.270.25.15398","article-title":"Integrin-Mediated Cell Adhesion Promotes Tyrosine Phosphorylation of p130Cas, a Src Homology 3-Containing Molecule Having Multiple Src Homology 2-Binding Motifs","volume":"270","author":"Nojima","year":"1995","journal-title":"J. Biol. Chem."},{"key":"ref_456","doi-asserted-by":"crossref","first-page":"1371","DOI":"10.1242\/jcs.108.4.1371","article-title":"Adhesion-Induced Tyrosine Phosphorylation of the P130 Src Substrate","volume":"108","author":"Petch","year":"1995","journal-title":"J. Cell Sci."},{"key":"ref_457","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1006\/excr.2000.4822","article-title":"Crk-Associated Substrate P130(Cas) Interacts with Nephrocystin and Both Proteins Localize to Cell-Cell Contacts of Polarized Epithelial Cells","volume":"256","author":"Donaldson","year":"2000","journal-title":"Exp. Cell Res."},{"key":"ref_458","doi-asserted-by":"crossref","first-page":"9784","DOI":"10.1073\/pnas.171269898","article-title":"Nephrocystin Interacts with Pyk2, P130(Cas), and Tensin and Triggers Phosphorylation of Pyk2","volume":"98","author":"Benzing","year":"2001","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_459","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1038\/ng1217","article-title":"Mutations in INVS Encoding Inversin Cause Nephronophthisis Type 2, Linking Renal Cystic Disease to the Function of Primary Cilia and Left-Right Axis Determination","volume":"34","author":"Otto","year":"2003","journal-title":"Nat. Genet."},{"key":"ref_460","doi-asserted-by":"crossref","first-page":"F55","DOI":"10.1152\/ajprenal.00043.2010","article-title":"Nephrocystin-3 Is Required for Ciliary Function in Zebrafish Embryos","volume":"299","author":"Zhou","year":"2010","journal-title":"Am. J. Physiol. Ren. Physiol."},{"key":"ref_461","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1016\/j.ajhg.2008.02.017","article-title":"Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia","volume":"82","author":"Bergmann","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"ref_462","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1038\/ng1216","article-title":"Mutations in a Novel Gene, NPHP3, Cause Adolescent Nephronophthisis, Tapeto-Retinal Degeneration and Hepatic Fibrosis","volume":"34","author":"Olbrich","year":"2003","journal-title":"Nat. Genet."},{"key":"ref_463","doi-asserted-by":"crossref","first-page":"4711","DOI":"10.1093\/hmg\/ddp434","article-title":"Nephrocystin-1 and Nephrocystin-4 Are Required for Epithelial Morphogenesis and Associate with PALS1\/PATJ and Par6","volume":"18","author":"Delous","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"ref_464","doi-asserted-by":"crossref","first-page":"1564","DOI":"10.1161\/CIRCRESAHA.112.269795","article-title":"NPHP4 Variants Are Associated with Pleiotropic Heart Malformations","volume":"110","author":"French","year":"2012","journal-title":"Circ. Res."},{"key":"ref_465","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1002\/humu.9326","article-title":"Mutational Analysis of the NPHP4 Gene in 250 Patients with Nephronophthisis","volume":"25","author":"Hoefele","year":"2005","journal-title":"Hum. Mutat."},{"key":"ref_466","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/j.devcel.2008.07.004","article-title":"CP110 Suppresses Primary Cilia Formation through Its Interaction with CEP290, a Protein Deficient in Human Ciliary Disease","volume":"15","author":"Tsang","year":"2008","journal-title":"Dev. Cell"},{"key":"ref_467","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1016\/S0968-0004(99)01406-1","article-title":"Mammalian Kr\u00fcppel-like Transcription Factors: More than Just a Pretty Finger","volume":"24","author":"Turner","year":"1999","journal-title":"Trends Biochem. Sci."},{"key":"ref_468","doi-asserted-by":"crossref","first-page":"10139","DOI":"10.1074\/jbc.M108062200","article-title":"Characterization of Glis2, a Novel Gene Encoding a Gli-Related, Kr\u00fcppel-like Transcription Factor with Transactivation and Repressor Functions. Roles in Kidney Development and Neurogenesis","volume":"277","author":"Zhang","year":"2002","journal-title":"J. Biol. Chem."},{"key":"ref_469","doi-asserted-by":"crossref","first-page":"e97791","DOI":"10.15252\/embj.201797791","article-title":"Cell Type-Specific Regulation of Ciliary Transition Zone Assembly in Vertebrates","volume":"37","author":"Wiegering","year":"2018","journal-title":"EMBO J."},{"key":"ref_470","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1186\/s12964-025-02143-w","article-title":"NEK8, a NIMA-Family Protein Kinase at the Core of the Ciliary INV Complex","volume":"23","author":"Roig","year":"2025","journal-title":"Cell Commun. Signal"},{"key":"ref_471","doi-asserted-by":"crossref","first-page":"6829","DOI":"10.1038\/s41598-023-32631-3","article-title":"Never in Mitosis Gene A-Related Kinase-8 Promotes Proliferation, Migration, Invasion, and Stemness of Breast Cancer Cells via \u03b2-Catenin Signalling Activation","volume":"13","author":"Kang","year":"2023","journal-title":"Sci. Rep."},{"key":"ref_472","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1007\/s00439-002-0817-0","article-title":"A Novel Locus for Meckel-Gruber Syndrome, MKS3, Maps to Chromosome 8q24","volume":"111","author":"Morgan","year":"2002","journal-title":"Hum. Genet."},{"key":"ref_473","doi-asserted-by":"crossref","first-page":"1663","DOI":"10.1242\/dev.01117","article-title":"LDL Receptor-Related Proteins 5 and 6 in Wnt\/Beta-Catenin Signaling: Arrows Point the Way","volume":"131","author":"He","year":"2004","journal-title":"Development"},{"key":"ref_474","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/j.tig.2004.02.003","article-title":"Rethinking WNT Signaling","volume":"20","author":"Tolwinski","year":"2004","journal-title":"Trends Genet."},{"key":"ref_475","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1016\/j.abb.2004.12.023","article-title":"Aminopeptidase P Isozyme Expression in Human Tissues and Peripheral Blood Mononuclear Cell Fractions","volume":"435","author":"Szpaderska","year":"2005","journal-title":"Arch. Biochem. Biophys."},{"key":"ref_476","doi-asserted-by":"crossref","first-page":"6023","DOI":"10.1038\/ncomms7023","article-title":"ANKS6 Is the Critical Activator of NEK8 Kinase in Embryonic Situs Determination and Organ Patterning","volume":"6","author":"Czarnecki","year":"2015","journal-title":"Nat. Commun."},{"key":"ref_477","doi-asserted-by":"crossref","unstructured":"Almohlesy, L.S., Imtiaz, F., Tulbah, M., Alhashem, A., Alhajooj, M., Alhashem, A., Mabillard, H., Sayer, J.A., Alharbi, K.K., and Al-Hamed, M.H. (2024). ANKS6 Variants Underlie Polycystic Kidneys in Prenatal and Neonatal Cases. Genes, 15.","DOI":"10.3390\/genes15111374"},{"key":"ref_478","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1016\/j.bbrc.2008.05.016","article-title":"Nephrocystin-1 Interacts Directly with Ack1 and Is Expressed in Human Collecting Duct","volume":"371","author":"Eley","year":"2008","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_479","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1002\/cm.20428","article-title":"Inv Acts as a Molecular Anchor for Nphp3 and Nek8 in the Proximal Segment of Primary Cilia","volume":"67","author":"Shiba","year":"2010","journal-title":"Cytoskeleton"},{"key":"ref_480","doi-asserted-by":"crossref","first-page":"3096","DOI":"10.1091\/mbc.e02-04-0195","article-title":"Inversin Forms a Complex with Catenins and N-Cadherin in Polarized Epithelial Cells","volume":"13","author":"Bacallao","year":"2002","journal-title":"Mol. Biol. Cell"},{"key":"ref_481","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1038\/ng1552","article-title":"Inversin, the Gene Product Mutated in Nephronophthisis Type II, Functions as a Molecular Switch between Wnt Signaling Pathways","volume":"37","author":"Simons","year":"2005","journal-title":"Nat. Genet."},{"key":"ref_482","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1242\/jcs.037408","article-title":"Localization of Inv in a Distinctive Intraciliary Compartment Requires the C-Terminal Ninein-Homolog-Containing Region","volume":"122","author":"Shiba","year":"2009","journal-title":"J. Cell Sci."},{"key":"ref_483","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1093\/hmg\/ddi061","article-title":"Characterization of the Nephrocystin\/Nephrocystin-4 Complex and Subcellular Localization of Nephrocystin-4 to Primary Cilia and Centrosomes","volume":"14","author":"Mollet","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"ref_484","doi-asserted-by":"crossref","first-page":"951","DOI":"10.1038\/ng.2681","article-title":"ANKS6 Is a Central Component of a Nephronophthisis Module Linking NEK8 to INVS and NPHP3","volume":"45","author":"Hoff","year":"2013","journal-title":"Nat. Genet."},{"key":"ref_485","doi-asserted-by":"crossref","first-page":"1191","DOI":"10.1038\/ki.2015.17","article-title":"Anks3 Interacts with Nephronophthisis Proteins and Is Required for Normal Renal Development","volume":"87","author":"Yakulov","year":"2015","journal-title":"Kidney Int."},{"key":"ref_486","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/j.str.2017.12.002","article-title":"Crystal Structure of Bicc1 SAM Polymer and Mapping of Interactions between the Ciliopathy-Associated Proteins Bicc1, ANKS3, and ANKS6","volume":"26","author":"Leettola","year":"2018","journal-title":"Structure"},{"key":"ref_487","doi-asserted-by":"crossref","first-page":"1847","DOI":"10.1093\/hmg\/ddl107","article-title":"In-Frame Deletion in a Novel Centrosomal\/Ciliary Protein CEP290\/NPHP6 Perturbs Its Interaction with RPGR and Results in Early-Onset Retinal Degeneration in the Rd16 Mouse","volume":"15","author":"Chang","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"ref_488","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1038\/ng.366","article-title":"A Common Allele in RPGRIP1L Is a Modifier of Retinal Degeneration in Ciliopathies","volume":"41","author":"Khanna","year":"2009","journal-title":"Nat. Genet."},{"key":"ref_489","doi-asserted-by":"crossref","first-page":"1018","DOI":"10.1038\/ng2072","article-title":"Loss of GLIS2 Causes Nephronophthisis in Humans and Mice by Increased Apoptosis and Fibrosis","volume":"39","author":"Attanasio","year":"2007","journal-title":"Nat. Genet."},{"key":"ref_490","doi-asserted-by":"crossref","first-page":"1155","DOI":"10.1093\/hmg\/ddr544","article-title":"The Nek8 Protein Kinase, Mutated in the Human Cystic Kidney Disease Nephronophthisis, Is Both Activated and Degraded during Ciliogenesis","volume":"21","author":"Zalli","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"ref_491","doi-asserted-by":"crossref","first-page":"F335","DOI":"10.1152\/ajprenal.00076.2025","article-title":"The Nephronophthisis Protein GLIS2\/NPHP7 Is Required for the DNA Damage Response in Kidney Tubular Epithelial Cells","volume":"329","author":"Ebert","year":"2025","journal-title":"Am. J. Physiol. Ren. Physiol."},{"key":"ref_492","doi-asserted-by":"crossref","first-page":"5528","DOI":"10.1093\/hmg\/dds408","article-title":"The Ciliopathy Disease Protein NPHP9 Promotes Nuclear Delivery and Activation of the Oncogenic Transcriptional Regulator TAZ","volume":"21","author":"Habbig","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"ref_493","doi-asserted-by":"crossref","first-page":"107446","DOI":"10.1016\/j.isci.2023.107446","article-title":"Mutational Burden of XPNPEP3 Leads to Defects in Mitochondrial Complex I and Cilia in NPHPL1","volume":"26","author":"Tong","year":"2023","journal-title":"iScience"},{"key":"ref_494","doi-asserted-by":"crossref","unstructured":"Ta, M.H.T., Schwensen, K.G., Foster, S., Korgaonkar, M., Ozimek-Kulik, J.E., Phillips, J.K., Peduto, A., and Rangan, G.K. (2016). Effects of TORC1 Inhibition during the Early and Established Phases of Polycystic Kidney Disease. PLoS ONE, 11.","DOI":"10.1371\/journal.pone.0164193"},{"key":"ref_495","doi-asserted-by":"crossref","first-page":"F1225","DOI":"10.1152\/ajprenal.00135.2012","article-title":"3D Spheroid Defects in NPHP Knockdown Cells Are Rescued by the Somatostatin Receptor Agonist Octreotide","volume":"303","author":"Ghosh","year":"2012","journal-title":"Am. J. Physiol. Ren. Physiol."},{"key":"ref_496","doi-asserted-by":"crossref","first-page":"2177","DOI":"10.1093\/hmg\/ddt070","article-title":"Mutations in NEK8 Link Multiple Organ Dysplasia with Altered Hippo Signalling and Increased C-MYC Expression","volume":"22","author":"Frank","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"ref_497","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1007\/s00467-019-04299-3","article-title":"Hippo Signaling-a Central Player in Cystic Kidney Disease?","volume":"35","author":"Schermer","year":"2020","journal-title":"Pediatr. Nephrol."},{"key":"ref_498","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1083\/jcb.201009069","article-title":"NPHP4, a Cilia-Associated Protein, Negatively Regulates the Hippo Pathway","volume":"193","author":"Habbig","year":"2011","journal-title":"J. Cell Biol."},{"key":"ref_499","doi-asserted-by":"crossref","unstructured":"Gupta, S., Ozimek-Kulik, J.E., and Phillips, J.K. (2021). Nephronophthisis-Pathobiology and Molecular Pathogenesis of a Rare Kidney Genetic Disease. Genes, 12.","DOI":"10.3390\/genes12111762"},{"key":"ref_500","doi-asserted-by":"crossref","first-page":"e70245","DOI":"10.1002\/ctm2.70245","article-title":"Kibra Knockdown Inhibits the Aberrant Hippo Pathway, Suppresses Renal Cyst Formation and Ameliorates Renal Fibrosis in nphp1KO Mice","volume":"15","author":"Yang","year":"2025","journal-title":"Clin. Transl. Med."},{"key":"ref_501","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1186\/s13287-025-04567-0","article-title":"iPSC-Based Drug Discovery Identified the Hippo Signaling Pathway as a Therapeutic Target in the Fibrosis of NPHP1-Deficient Nephronophthisis","volume":"16","author":"Suzuki","year":"2025","journal-title":"Stem Cell Res. Ther."},{"key":"ref_502","doi-asserted-by":"crossref","first-page":"9893","DOI":"10.1073\/pnas.1322373111","article-title":"Murine Joubert Syndrome Reveals Hedgehog Signaling Defects as a Potential Therapeutic Target for Nephronophthisis","volume":"111","author":"Hynes","year":"2014","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_503","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1016\/j.cell.2011.04.019","article-title":"Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways","volume":"145","author":"Sang","year":"2011","journal-title":"Cell"},{"key":"ref_504","doi-asserted-by":"crossref","unstructured":"Stokman, M.F., Saunier, S., and Benmerah, A. (2021). Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis. Front. Cell Dev. Biol., 9.","DOI":"10.3389\/fcell.2021.653138"},{"key":"ref_505","doi-asserted-by":"crossref","first-page":"2095","DOI":"10.1007\/s00467-008-0898-7","article-title":"Restoration of Renal Function in Zebrafish Models of Ciliopathies","volume":"23","author":"Tobin","year":"2008","journal-title":"Pediatr. Nephrol."},{"key":"ref_506","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.ajhg.2014.12.002","article-title":"DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling","volume":"96","author":"Schueler","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"ref_507","doi-asserted-by":"crossref","unstructured":"Wodarczyk, C., Distefano, G., Rowe, I., Gaetani, M., Bricoli, B., Muorah, M., Spitaleri, A., Mannella, V., Ricchiuto, P., and Pema, M. (2010). Nephrocystin-1 Forms a Complex with Polycystin-1 via a Polyproline Motif\/SH3 Domain Interaction and Regulates the Apoptotic Response in Mammals. PLoS ONE, 5.","DOI":"10.1371\/journal.pone.0012719"},{"key":"ref_508","doi-asserted-by":"crossref","first-page":"1238","DOI":"10.1038\/s44321-025-00233-3","article-title":"SOX9-Dependent Fibrosis Drives Renal Function in Nephronophthisis","volume":"17","author":"Patel","year":"2025","journal-title":"EMBO Mol. Med."},{"key":"ref_509","doi-asserted-by":"crossref","first-page":"15954","DOI":"10.1038\/s41598-020-72905-8","article-title":"Nephronophthisis Gene Products Display RNA-Binding Properties and Are Recruited to Stress Granules","volume":"10","author":"Engel","year":"2020","journal-title":"Sci. Rep."},{"key":"ref_510","doi-asserted-by":"crossref","first-page":"F909","DOI":"10.1152\/ajprenal.00722.2009","article-title":"A Metabolomics Approach Using Juvenile Cystic Mice to Identify Urinary Biomarkers and Altered Pathways in Polycystic Kidney Disease","volume":"298","author":"Taylor","year":"2010","journal-title":"Am. J. Physiol. Ren. Physiol."},{"key":"ref_511","doi-asserted-by":"crossref","first-page":"9022","DOI":"10.1038\/s41598-018-27389-y","article-title":"Metabolic Phenotyping of Anks3 Depletion in mIMCD-3 Cells-a Putative Nephronophthisis Candidate","volume":"8","author":"Schlimpert","year":"2018","journal-title":"Sci. Rep."},{"key":"ref_512","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1016\/j.cmet.2019.08.003","article-title":"Mitochondrial Damage and Activation of the STING Pathway Lead to Renal Inflammation and Fibrosis","volume":"30","author":"Chung","year":"2019","journal-title":"Cell Metab."},{"key":"ref_513","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1186\/s12964-024-01481-5","article-title":"The Pathogenic Role of Succinate-SUCNR1: A Critical Function That Induces Renal Fibrosis via M2 Macrophage","volume":"22","author":"Pu","year":"2024","journal-title":"Cell Commun. Signal"},{"key":"ref_514","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1038\/s41581-024-00889-z","article-title":"Metabolism at the Crossroads of Inflammation and Fibrosis in Chronic Kidney Disease","volume":"21","author":"Miguel","year":"2025","journal-title":"Nat. Rev. Nephrol."},{"key":"ref_515","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1007\/s11596-026-00192-x","article-title":"Therapeutic Regulation of Macrophage Polarization for Diabetic Kidney Disease by Targeted Metabolic Reprogramming","volume":"46","author":"Fei","year":"2026","journal-title":"Curr. Med. Sci."},{"key":"ref_516","doi-asserted-by":"crossref","first-page":"2756","DOI":"10.1016\/j.cub.2024.05.015","article-title":"Ciliary Intrinsic Mechanisms Regulate Dynamic Ciliary Extracellular Vesicle Release from Sensory Neurons","volume":"34","author":"Wang","year":"2024","journal-title":"Curr. Biol."},{"key":"ref_517","doi-asserted-by":"crossref","unstructured":"Srivastava, S., Molinari, E., Raman, S., and Sayer, J.A. (2017). Many Genes-One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders. Front. Pediatr., 5.","DOI":"10.3389\/fped.2017.00287"},{"key":"ref_518","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1002\/ajmg.a.38650","article-title":"Isosorbide Dinitrate in Nephronophthisis Treatment","volume":"176","author":"Strong","year":"2018","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_519","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1038\/ki.2009.147","article-title":"Late Progression of Renal Pathology and Cyst Enlargement Is Reduced by Rapamycin in a Mouse Model of Nephronophthisis","volume":"76","author":"Gattone","year":"2009","journal-title":"Kidney Int."},{"key":"ref_520","doi-asserted-by":"crossref","first-page":"4657","DOI":"10.1093\/hmg\/ddx347","article-title":"A Human Patient-Derived Cellular Model of Joubert Syndrome Reveals Ciliary Defects Which Can Be Rescued with Targeted Therapies","volume":"26","author":"Srivastava","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"ref_521","doi-asserted-by":"crossref","unstructured":"Courbebaisse, M., Travers, S., Bouderlique, E., Michon-Colin, A., Daudon, M., De Mul, A., Poli, L., Baron, S., and Prot-Bertoye, C. (2023). Hydration for Adult Patients with Nephrolithiasis: Specificities and Current Recommendations. Nutrients, 15.","DOI":"10.20944\/preprints202310.1659.v1"},{"key":"ref_522","unstructured":"Muppidi, V., Meegada, S.R., and Rehman, A. (2026). Secondary Hyperparathyroidism. StatPearls, StatPearls Publishing."},{"key":"ref_523","doi-asserted-by":"crossref","first-page":"7015604","DOI":"10.1155\/anem\/7015604","article-title":"Prevalence and Risk Factors Associated with Anemia in Adolescent Females From Rural Maharashtra, India: Findings From the MAS 2 Project","volume":"2025","author":"Shah","year":"2025","journal-title":"Anemia"},{"key":"ref_524","doi-asserted-by":"crossref","first-page":"1893","DOI":"10.2215\/CJN.04670510","article-title":"The Evidence-Based Use of Thiazide Diuretics in Hypertension and Nephrolithiasis","volume":"5","author":"Reilly","year":"2010","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"ref_525","doi-asserted-by":"crossref","first-page":"970946","DOI":"10.1155\/2013\/970946","article-title":"Growth Retardation in Children with Kidney Disease","volume":"2013","author":"Salas","year":"2013","journal-title":"Int. J. Endocrinol."},{"key":"ref_526","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1111\/1744-9987.13584","article-title":"Changing the Terminology from Kidney Replacement Therapy to Kidney Support Therapy","volume":"25","author":"Raina","year":"2021","journal-title":"Ther. Apher. Dial."},{"key":"ref_527","doi-asserted-by":"crossref","first-page":"S554","DOI":"10.1097\/01.tp.0000701524.64564.f8","article-title":"Long-term survival of kidney transplants in pediatric patients with nephronophthisis","volume":"104","author":"Kim","year":"2020","journal-title":"Transplantation"},{"key":"ref_528","doi-asserted-by":"crossref","unstructured":"Zhu, H., Zhao, Z., Zhu, S., Xiong, F., He, L., Zhang, Y., and Wang, J. (2022). Renal\u2013Hepatic\u2013Pancreatic Dysplasia-1 with a Novel NPHP3 Genotype: A Case Report and Review of the Literature. BMC Pediatr., 22.","DOI":"10.1186\/s12887-022-03659-7"},{"key":"ref_529","doi-asserted-by":"crossref","first-page":"sfaf064","DOI":"10.1093\/ckj\/sfaf064","article-title":"The Spectrum of Diseases, Genetic Landscape and New Mutation Sites of Hereditary Cystic Kidney Disease","volume":"18","author":"Bi","year":"2025","journal-title":"Clin. Kidney J."},{"key":"ref_530","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/j.ydbio.2007.03.011","article-title":"Wnt5a Functions in Planar Cell Polarity Regulation in Mice","volume":"306","author":"Qian","year":"2007","journal-title":"Dev. Biol."},{"key":"ref_531","doi-asserted-by":"crossref","first-page":"1045","DOI":"10.1038\/ncb2806","article-title":"Wg and Wnt4 Provide Long-Range Directional Input to Planar Cell Polarity Orientation in Drosophila","volume":"15","author":"Wu","year":"2013","journal-title":"Nat. Cell Biol."},{"key":"ref_532","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1016\/j.devcel.2017.02.010","article-title":"A Wnt5 Activity Asymmetry and Intercellular Signaling via PCP Proteins Polarize Node Cells for Left-Right Symmetry Breaking","volume":"40","author":"Minegishi","year":"2017","journal-title":"Dev. Cell"},{"key":"ref_533","doi-asserted-by":"crossref","first-page":"e16463","DOI":"10.7554\/eLife.16463","article-title":"Wnt Proteins Can Direct Planar Cell Polarity in Vertebrate Ectoderm","volume":"5","author":"Chu","year":"2016","journal-title":"eLife"},{"key":"ref_534","doi-asserted-by":"crossref","first-page":"108121","DOI":"10.1016\/j.celrep.2020.108121","article-title":"No Evidence That Wnt Ligands Are Required for Planar Cell Polarity in Drosophila","volume":"32","author":"Comyn","year":"2020","journal-title":"Cell Rep."},{"key":"ref_535","doi-asserted-by":"crossref","unstructured":"Papakrivopoulou, E., Jafree, D.J., Dean, C.H., and Long, D.A. (2021). The Biological Significance and Implications of Planar Cell Polarity for Nephrology. Front. Physiol., 12.","DOI":"10.3389\/fphys.2021.599529"},{"key":"ref_536","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1016\/j.devcel.2010.04.008","article-title":"Patterning a Complex Organ: Branching Morphogenesis and Nephron Segmentation in Kidney Development","volume":"18","author":"Costantini","year":"2010","journal-title":"Dev. Cell"},{"key":"ref_537","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1083\/jcb.201610048","article-title":"Patterned Cell and Matrix Dynamics in Branching Morphogenesis","volume":"216","author":"Wang","year":"2017","journal-title":"J. Cell Biol."},{"key":"ref_538","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1038\/s41581-021-00395-6","article-title":"Planar Cell Polarity Pathway in Kidney Development, Function and Disease","volume":"17","author":"Torban","year":"2021","journal-title":"Nat. Rev. Nephrol."},{"key":"ref_539","doi-asserted-by":"crossref","unstructured":"Vasileva, V.Y., Sultanova, R.F., Sudarikova, A.V., and Ilatovskaya, D.V. (2021). Insights into the Molecular Mechanisms of Polycystic Kidney Diseases. Front. Physiol., 12.","DOI":"10.3389\/fphys.2021.693130"},{"key":"ref_540","doi-asserted-by":"crossref","unstructured":"Al-Orjani, Q., Alshriem, L.A., Gallagher, G., Buqaileh, R., Azizi, N., and AbouAlaiwi, W. (2025). Mechanistic Insights into the Pathogenesis of Polycystic Kidney Disease. Cells, 14.","DOI":"10.3390\/cells14151203"},{"key":"ref_541","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1534\/genetics.119.302964","article-title":"Large-Scale Transgenic Drosophila Resource Collections for Loss- and Gain-of-Function Studies","volume":"214","author":"Zirin","year":"2020","journal-title":"Genetics"},{"key":"ref_542","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1242\/dmm.027680","article-title":"Drosophila and Genome-Wide Association Studies: A Review and Resource for the Functional Dissection of Human Complex Traits","volume":"10","author":"Wangler","year":"2017","journal-title":"Dis. Model. Mech."},{"key":"ref_543","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.ydbio.2022.02.013","article-title":"The Great Small Organisms of Developmental Genetics: Caenorhabditis Elegans and Drosophila Melanogaster","volume":"485","author":"Kimble","year":"2022","journal-title":"Dev. Biol."},{"key":"ref_544","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1038\/nrg1503","article-title":"Drosophila, the Golden Bug, Emerges as a Tool for Human Genetics","volume":"6","author":"Bier","year":"2005","journal-title":"Nat. Rev. Genet."},{"key":"ref_545","doi-asserted-by":"crossref","first-page":"2204","DOI":"10.1126\/science.287.5461.2204","article-title":"Comparative Genomics of the Eukaryotes","volume":"287","author":"Rubin","year":"2000","journal-title":"Science"},{"key":"ref_546","doi-asserted-by":"crossref","first-page":"1114","DOI":"10.1101\/gr.169101","article-title":"A Systematic Analysis of Human Disease-Associated Gene Sequences in Drosophila Melanogaster","volume":"11","author":"Reiter","year":"2001","journal-title":"Genome Res."},{"key":"ref_547","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1093\/nar\/30.1.149","article-title":"Homophila: Human Disease Gene Cognates in Drosophila","volume":"30","author":"Chien","year":"2002","journal-title":"Nucleic Acids Res."},{"key":"ref_548","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1242\/dmm.023762","article-title":"Drosophila Tools and Assays for the Study of Human Diseases","volume":"9","author":"Ugur","year":"2016","journal-title":"Dis. Model. Mech."},{"key":"ref_549","first-page":"5697436","article-title":"Modeling Renal Disease \u201cOn the Fly\u201d","volume":"2018","author":"Gamberi","year":"2018","journal-title":"Biomed. Res. Int."},{"key":"ref_550","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1038\/s41581-022-00561-4","article-title":"Drosophila Melanogaster: A Simple Genetic Model of Kidney Structure, Function and Disease","volume":"18","author":"Dow","year":"2022","journal-title":"Nat. Rev. Nephrol."},{"key":"ref_551","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1242\/jeb.32.1.200","article-title":"The Excretion of Sodium, Potassium and Water by the Malpighian Tubules of the Stick Insect, Dixippus Morosus (Orthoptera, Phasmidae)","volume":"32","author":"Ramsay","year":"1955","journal-title":"J. Exp. Biol."},{"key":"ref_552","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1242\/jeb.197.1.421","article-title":"The Malpighian Tubules of Drosophila Melanogaster: A Novel Phenotype for Studies of Fluid Secretion and Its Control","volume":"197","author":"Dow","year":"1994","journal-title":"J. Exp. Biol."},{"key":"ref_553","doi-asserted-by":"crossref","first-page":"F1237","DOI":"10.1152\/ajprenal.00521.2010","article-title":"Drosophila Provides Rapid Modeling of Renal Development, Function, and Disease","volume":"299","author":"Dow","year":"2010","journal-title":"Am. J. Physiol. Ren. Physiol."},{"key":"ref_554","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/nrg.2016.118","article-title":"Loss-of-Function Genetic Tools for Animal Models: Cross-Species and Cross-Platform Differences","volume":"18","author":"Housden","year":"2017","journal-title":"Nat. Rev. Genet."},{"key":"ref_555","doi-asserted-by":"crossref","first-page":"2079","DOI":"10.1242\/dev.045021","article-title":"Mechanism and Evolution of Cytosolic Hedgehog Signal Transduction","volume":"137","author":"Wilson","year":"2010","journal-title":"Development"},{"key":"ref_556","first-page":"1","article-title":"How Genetics Has Helped Piece Together the MAPK Signaling Pathway","volume":"1487","author":"Therrien","year":"2017","journal-title":"Methods Mol. Biol."},{"key":"ref_557","doi-asserted-by":"crossref","first-page":"1311","DOI":"10.1534\/genetics.117.300157","article-title":"Wingless Signaling: A Genetic Journey from Morphogenesis to Metastasis","volume":"208","author":"Bejsovec","year":"2018","journal-title":"Genetics"},{"key":"ref_558","doi-asserted-by":"crossref","first-page":"dev168898","DOI":"10.1242\/dev.168898","article-title":"From Drosophila Segmentation to Human Cancer Therapy","volume":"145","author":"Ingham","year":"2018","journal-title":"Development"},{"key":"ref_559","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1007\/978-3-319-89512-3_8","article-title":"Integration of Drosophila and Human Genetics to Understand Notch Signaling Related Diseases","volume":"1066","author":"Salazar","year":"2018","journal-title":"Adv. Exp. Med. Biol."},{"key":"ref_560","doi-asserted-by":"crossref","unstructured":"K\u00f6ttgen, M., Hofherr, A., Li, W., Chu, K., Cook, S., Montell, C., and Watnick, T. (2011). Drosophila Sperm Swim Backwards in the Female Reproductive Tract and Are Activated via TRPP2 Ion Channels. PLoS ONE, 6.","DOI":"10.1371\/journal.pone.0020031"},{"key":"ref_561","doi-asserted-by":"crossref","unstructured":"Millet-Boureima, C., Rozencwaig, R., Polyak, F., and Gamberi, C. (2020). Cyst Reduction by Melatonin in a Novel Drosophila Model of Polycystic Kidney Disease. Molecules, 25.","DOI":"10.3390\/molecules25225477"},{"key":"ref_562","doi-asserted-by":"crossref","first-page":"dmm041301","DOI":"10.1242\/dmm.041301","article-title":"Extracellular Matrix Induced by Steroids and Aging through a G-Protein-Coupled Receptor in a Drosophila Model of Renal Fibrosis","volume":"13","author":"Zheng","year":"2020","journal-title":"Dis. Model. Mech."},{"key":"ref_563","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.cmet.2007.09.002","article-title":"Diabetic Larvae and Obese Flies-Emerging Studies of Metabolism in Drosophila","volume":"6","author":"Baker","year":"2007","journal-title":"Cell Metab."},{"key":"ref_564","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1016\/j.cmet.2016.03.009","article-title":"Mitochondrial ROS Produced via Reverse Electron Transport Extend Animal Lifespan","volume":"23","author":"Sriram","year":"2016","journal-title":"Cell Metab."},{"key":"ref_565","doi-asserted-by":"crossref","first-page":"1163","DOI":"10.1534\/genetics.118.301583","article-title":"Triacylglycerol Metabolism in Drosophila Melanogaster","volume":"210","author":"Heier","year":"2018","journal-title":"Genetics"},{"key":"ref_566","doi-asserted-by":"crossref","first-page":"dmm049549","DOI":"10.1242\/dmm.049549","article-title":"The Power of Drosophila in Modeling Human Disease Mechanisms","volume":"15","author":"Verheyen","year":"2022","journal-title":"Dis. Model. Mech."},{"key":"ref_567","doi-asserted-by":"crossref","first-page":"1868","DOI":"10.1016\/j.biocel.2004.03.012","article-title":"Polycystic Kidney Disease: New Understanding in the Pathogenesis","volume":"36","author":"Wilson","year":"2004","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"ref_568","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1007\/s00247-008-1064-x","article-title":"Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis (ARPKD\/CHF)","volume":"39","author":"Turkbey","year":"2009","journal-title":"Pediatr. Radiol."},{"key":"ref_569","doi-asserted-by":"crossref","first-page":"1119","DOI":"10.1093\/genetics\/129.4.1119","article-title":"Female Sterile Mutations on the Second Chromosome of Drosophila Melanogaster. II. Mutations Blocking Oogenesis or Altering Egg Morphology","volume":"129","author":"Wieschaus","year":"1991","journal-title":"Genetics"},{"key":"ref_570","doi-asserted-by":"crossref","unstructured":"He, W.-B., Xiao, W.-J., Tan, Y.-Q., Zhao, X.-M., Li, W., Zhang, Q.-J., Zhong, C.-G., Li, X.-R., Hu, L., and Lu, G.-X. (2018). Novel Mutations of PKD Genes in Chinese Patients Suffering from Autosomal Dominant Polycystic Kidney Disease and Seeking Assisted Reproduction. BMC Med. Genet., 19.","DOI":"10.1186\/s12881-018-0693-7"},{"key":"ref_571","doi-asserted-by":"crossref","unstructured":"Purhonen, J., Klefstr\u00f6m, J., and Kallij\u00e4rvi, J. (2023). MYC-an Emerging Player in Mitochondrial Diseases. Front. Cell Dev. Biol., 11.","DOI":"10.3389\/fcell.2023.1257651"},{"key":"ref_572","doi-asserted-by":"crossref","first-page":"2359","DOI":"10.1128\/MCB.01259-08","article-title":"Polycystin-1 Regulates Extracellular Signal-Regulated Kinase-Dependent Phosphorylation of Tuberin to Control Cell Size through mTOR and Its Downstream Effectors S6K and 4EBP1","volume":"29","author":"Distefano","year":"2009","journal-title":"Mol. Cell Biol."},{"key":"ref_573","doi-asserted-by":"crossref","unstructured":"Pan, S., Yuan, T., Xia, Y., Yu, W., Li, H., Rao, T., Ye, Z., Li, L., Zhou, X., and Cheng, F. (2024). SMYD2 Promotes Calcium Oxalate-Induced Glycolysis in Renal Tubular Epithelial Cells via PTEN Methylation. Biomedicines, 12.","DOI":"10.3390\/biomedicines12102279"},{"key":"ref_574","doi-asserted-by":"crossref","unstructured":"Millet-Boureima, C., He, S., Le, T.B.U., and Gamberi, C. (2021). Modeling Neoplastic Growth in Renal Cell Carcinoma and Polycystic Kidney Disease. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms22083918"},{"key":"ref_575","doi-asserted-by":"crossref","unstructured":"Malik, S.A., Modarage, K., and Goggolidou, P. (2020). The Role of Wnt Signalling in Chronic Kidney Disease (CKD). Genes, 11.","DOI":"10.3390\/genes11050496"},{"key":"ref_576","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1038\/nature12832","article-title":"Direct Recording and Molecular Identification of the Calcium Channel of Primary Cilia","volume":"504","author":"DeCaen","year":"2013","journal-title":"Nature"},{"key":"ref_577","doi-asserted-by":"crossref","first-page":"4871","DOI":"10.1038\/s41467-021-25216-z","article-title":"Structural Basis for Ca2+ Activation of the Heteromeric PKD1L3\/PKD2L1 Channel","volume":"12","author":"Su","year":"2021","journal-title":"Nat. Commun."},{"key":"ref_578","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1146\/annurev-physiol-031522-084334","article-title":"Polycystin Channel Complexes","volume":"85","author":"Larmore","year":"2023","journal-title":"Annu. Rev. Physiol."},{"key":"ref_579","doi-asserted-by":"crossref","first-page":"e56783","DOI":"10.15252\/embr.202356783","article-title":"Energetic Landscape of Polycystin Channel Gating","volume":"24","author":"Ng","year":"2023","journal-title":"EMBO Rep."},{"key":"ref_580","first-page":"REVIEWS3001","article-title":"The Wnts","volume":"3","author":"Miller","year":"2002","journal-title":"Genome Biol."},{"key":"ref_581","unstructured":"(2026, July 03). Search ClinicalTrials.Gov for: Autosomal Dominant Polycystic Kidney Disease|Card Results|ClinicalTrials.Gov, Available online: https:\/\/clinicaltrials.gov\/search?cond=Autosomal%20Dominant%20Polycystic%20Kidney%20Disease&viewType=Card."},{"key":"ref_582","unstructured":"(2026, July 03). Search ClinicalTrials.Gov  for: Autosomal Recessive Polycystic Kidney Disease|Card Results|ClinicalTrials.Gov, Available online: https:\/\/clinicaltrials.gov\/search?viewType=Card&cond=Autosomal%20recessive%20Polycystic%20Kidney%20Disease."},{"key":"ref_583","unstructured":"(2026, July 03). Search ClinicalTrials.Gov for: Nephronophthisis|Card Results|ClinicalTrials.Gov, Available online: https:\/\/clinicaltrials.gov\/search?cond=nephronophthisis&viewType=Card."}],"container-title":["Journal of Developmental Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2221-3759\/14\/3\/36\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,12]],"date-time":"2026-08-12T04:22:28Z","timestamp":1786508548000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2221-3759\/14\/3\/36"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8,10]]},"references-count":583,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2026,9]]}},"alternative-id":["jdb14030036"],"URL":"https:\/\/doi.org\/10.3390\/jdb14030036","relation":{},"ISSN":["2221-3759"],"issn-type":[{"value":"2221-3759","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8,10]]}}}