{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T08:21:57Z","timestamp":1790670117564,"version":"4.1.0"},"reference-count":93,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2021,2,1]],"date-time":"2021-02-01T00:00:00Z","timestamp":1612137600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,2,1]],"date-time":"2021-02-01T00:00:00Z","timestamp":1612137600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100002855","name":"Ministry of Science and Technology of the People's Republic of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002855","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006250","name":"Southwest University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006250","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Seminars in Cell & Developmental Biology"],"published-print":{"date-parts":[[2021,2]]},"DOI":"10.1016\/j.semcdb.2020.05.003","type":"journal-article","created":{"date-parts":[[2020,5,28]],"date-time":"2020-05-28T09:50:22Z","timestamp":1590659422000},"page":"139-148","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":67,"special_numbering":"C","title":["Cilia and polycystic kidney disease"],"prefix":"10.1016","volume":"110","author":[{"given":"Ming","family":"Ma","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.semcdb.2020.05.003_bib0005","first-page":"725","article-title":"The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium","volume":"78","year":"1994","journal-title":"Cell"},{"key":"10.1016\/j.semcdb.2020.05.003_bib0010","doi-asserted-by":"crossref","first-page":"1339","DOI":"10.1126\/science.272.5266.1339","article-title":"PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein","volume":"272","author":"Mochizuki","year":"1996","journal-title":"Science"},{"key":"10.1016\/j.semcdb.2020.05.003_bib0015","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":"10.1016\/j.semcdb.2020.05.003_bib0020","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":"10.1016\/j.semcdb.2020.05.003_bib0025","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.ceb.2018.03.004","article-title":"The molecular machines that traffic signaling receptors into and out of cilia","volume":"51","author":"Nachury","year":"2018","journal-title":"Curr. Opin. Cell Biol."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0030","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1038\/ng.891","article-title":"A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition","volume":"43","author":"Garcia-Gonzalo","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0035","doi-asserted-by":"crossref","first-page":"1289","DOI":"10.1016\/j.cell.2019.11.005","article-title":"Omega-3 fatty acids activate ciliary FFAR4 to control adipogenesis","volume":"179","author":"Hilgendorf","year":"2019","journal-title":"Cell"},{"key":"10.1016\/j.semcdb.2020.05.003_bib0040","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1038\/s41588-017-0020-9","article-title":"Subcellular localization of MC4R with ADCY3 at neuronal primary cilia underlies a common pathway for genetic predisposition to obesity","volume":"50","author":"Siljee","year":"2018","journal-title":"Nat. Genet."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0045","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":"10.1016\/j.semcdb.2020.05.003_bib0050","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1038\/nature12833","article-title":"Primary cilia are specialized calcium signalling organelles","volume":"504","author":"Delling","year":"2013","journal-title":"Nature"},{"key":"10.1016\/j.semcdb.2020.05.003_bib0055","first-page":"9","article-title":"Primary cilia and coordination of receptor tyrosine kinase (RTK) and transforming growth factor beta (TGF-beta) signaling","author":"Christensen","year":"2017","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0060","doi-asserted-by":"crossref","first-page":"11325","DOI":"10.1073\/pnas.0505328102","article-title":"Cilia and Hedgehog responsiveness in the mouse","volume":"102","author":"Huangfu","year":"2005","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0065","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pbio.2002063","article-title":"Regulation of Gli ciliary localization and Hedgehog signaling by the PY-NLS\/karyopherin-beta2 nuclear import system","volume":"15","author":"Han","year":"2017","journal-title":"PLoS Biol."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0070","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1016\/j.devcel.2012.07.004","article-title":"A Smoothened-Evc2 complex transduces the Hedgehog signal at primary cilia","volume":"23","author":"Dorn","year":"2012","journal-title":"Dev. Cell"},{"key":"10.1016\/j.semcdb.2020.05.003_bib0075","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1038\/ncb2988","article-title":"The kinesin-4 protein Kif7 regulates mammalian Hedgehog signalling by organizing the cilium tip compartment","volume":"16","author":"He","year":"2014","journal-title":"Nat. Cell Biol."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0080","doi-asserted-by":"crossref","first-page":"16981","DOI":"10.1073\/pnas.252484899","article-title":"Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations","volume":"99","author":"Qian","year":"2002","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0085","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":"10.1016\/j.semcdb.2020.05.003_bib0090","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1038\/ncb754","article-title":"Polycystin-2 is an intracellular calcium release channel","volume":"4","author":"Koulen","year":"2002","journal-title":"Nat. Cell Biol."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0095","first-page":"7","article-title":"Polycystin-2 is an essential ion channel subunit in the primary cilium of the renal collecting duct epithelium","author":"Liu","year":"2018","journal-title":"Elife"},{"key":"10.1016\/j.semcdb.2020.05.003_bib0100","doi-asserted-by":"crossref","first-page":"R378","DOI":"10.1016\/S0960-9822(02)00877-1","article-title":"Polycystin-2 localizes to kidney cilia and the ciliary level is elevated in orpk mice with polycystic kidney disease","volume":"12","author":"Pazour","year":"2002","journal-title":"Curr. Biol."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0105","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1016\/j.cell.2016.09.048","article-title":"The structure of the polycystic kidney disease channel PKD2 in lipid nanodiscs","volume":"167","author":"Shen","year":"2016","journal-title":"Cell"},{"key":"10.1016\/j.semcdb.2020.05.003_bib0110","first-page":"361","article-title":"Structure of the human PKD1-PKD2 complex","author":"Su","year":"2018","journal-title":"Science"},{"key":"10.1016\/j.semcdb.2020.05.003_bib0115","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/S0092-8674(00)81570-6","article-title":"Somatic inactivation of Pkd2 results in polycystic kidney disease","volume":"93","author":"Wu","year":"1998","journal-title":"Cell"},{"key":"10.1016\/j.semcdb.2020.05.003_bib0120","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/S1097-2765(00)80135-5","article-title":"Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease","volume":"2","author":"Watnick","year":"1998","journal-title":"Mol. Cell"},{"key":"10.1016\/j.semcdb.2020.05.003_bib0125","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":"10.1016\/j.semcdb.2020.05.003_bib0130","doi-asserted-by":"crossref","first-page":"710","DOI":"10.2215\/CJN.01581105","article-title":"Incident renal events and risk factors in autosomal dominant polycystic kidney disease: a population and family-based cohort followed for 22 years","volume":"1","author":"Dicks","year":"2006","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0135","doi-asserted-by":"crossref","first-page":"3013","DOI":"10.1681\/ASN.2006080835","article-title":"Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease","volume":"17","author":"Harris","year":"2006","journal-title":"J. Am. Soc. Nephrol."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0140","doi-asserted-by":"crossref","first-page":"889","DOI":"10.2215\/CJN.00550110","article-title":"Evidence of extraordinary growth in the progressive enlargement of renal cysts","volume":"5","author":"Grantham","year":"2010","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0145","doi-asserted-by":"crossref","first-page":"1490","DOI":"10.1038\/nm1675","article-title":"A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1","volume":"13","author":"Piontek","year":"2007","journal-title":"Nat. Med."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0150","doi-asserted-by":"crossref","first-page":"1505","DOI":"10.1093\/hmg\/ddn039","article-title":"Cyst formation and activation of the extracellular regulated kinase pathway after kidney specific inactivation of Pkd1","volume":"17","author":"Shibazaki","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0155","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1038\/ng.860","article-title":"A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation","volume":"43","author":"Fedeles","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0160","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":"10.1016\/j.semcdb.2020.05.003_bib0165","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1016\/j.nephro.2018.03.002","article-title":"[PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD): genotype-phenotype correlations from a series of 308 cases to improve prenatal counselling]","volume":"14","author":"Hamo","year":"2018","journal-title":"Nephrol. Ther."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0170","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1038\/ki.2009.440","article-title":"Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease","volume":"77","author":"Denamur","year":"2010","journal-title":"Kidney Int."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0175","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":"10.1016\/j.semcdb.2020.05.003_bib0180","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":"10.1016\/j.semcdb.2020.05.003_bib0185","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1083\/jcb.200910096","article-title":"The cytoplasmic tail of fibrocystin contains a ciliary targeting sequence","volume":"188","author":"Follit","year":"2010","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0190","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":"10.1016\/j.semcdb.2020.05.003_bib0195","doi-asserted-by":"crossref","first-page":"2703","DOI":"10.1093\/hmg\/ddg274","article-title":"Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia","volume":"12","author":"Ward","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0200","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":"10.1016\/j.semcdb.2020.05.003_bib0205","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":"10.1016\/j.semcdb.2020.05.003_bib0210","doi-asserted-by":"crossref","first-page":"1719","DOI":"10.1016\/S0002-9440(10)63427-X","article-title":"Biliary dysgenesis in the PCK rat, an orthologous model of autosomal recessive polycystic kidney disease","volume":"165","author":"Masyuk","year":"2004","journal-title":"Am. J. Pathol."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0215","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1086\/368295","article-title":"Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease","volume":"72","author":"Li","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0220","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/ng1357","article-title":"Mutations in SEC63 cause autosomal dominant polycystic liver disease","volume":"36","author":"Davila","year":"2004","journal-title":"Nat. Genet."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0225","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1038\/ng1104","article-title":"Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease","volume":"33","author":"Drenth","year":"2003","journal-title":"Nat. Genet."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0230","doi-asserted-by":"crossref","first-page":"1772","DOI":"10.1172\/JCI90129","article-title":"Isolated polycystic liver disease genes define effectors of polycystin-1 function","volume":"127","author":"Besse","year":"2017","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0235","doi-asserted-by":"crossref","first-page":"2091","DOI":"10.1681\/ASN.2019030298","article-title":"ALG9 mutation carriers develop kidney and liver cysts","volume":"30","author":"Besse","year":"2019","journal-title":"J. Am. Soc. Nephrol."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0240","doi-asserted-by":"crossref","first-page":"1193","DOI":"10.1016\/j.ajhg.2016.05.004","article-title":"Mutations in GANAB, encoding the glucosidase IIalpha subunit, cause autosomal-dominant polycystic kidney and liver disease","volume":"98","author":"Porath","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0245","doi-asserted-by":"crossref","first-page":"2056","DOI":"10.1053\/j.gastro.2011.08.004","article-title":"Secondary, somatic mutations might promote cyst formation in patients with autosomal dominant polycystic liver disease","volume":"141","author":"Janssen","year":"2011","journal-title":"Gastroenterology"},{"key":"10.1016\/j.semcdb.2020.05.003_bib0250","doi-asserted-by":"crossref","first-page":"5343","DOI":"10.1073\/pnas.1309438111","article-title":"Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis","volume":"111","author":"Cnossen","year":"2014","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0255","doi-asserted-by":"crossref","first-page":"1039","DOI":"10.1007\/s00467-010-1731-7","article-title":"Ciliopathies: an expanding disease spectrum","volume":"26","author":"Waters","year":"2011","journal-title":"Pediatr. Nephrol."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0260","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":"10.1016\/j.semcdb.2020.05.003_bib0265","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":"10.1016\/j.semcdb.2020.05.003_bib0270","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1086\/421846","article-title":"The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome","volume":"75","author":"Parisi","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0275","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1038\/ng.756","article-title":"TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum","volume":"43","author":"Davis","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0280","doi-asserted-by":"crossref","first-page":"5286","DOI":"10.1073\/pnas.0836980100","article-title":"Kidney-specific inactivation of the KIF3A subunit of kinesin-II inhibits renal ciliogenesis and produces polycystic kidney disease","volume":"100","author":"Lin","year":"2003","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0285","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":"10.1016\/j.semcdb.2020.05.003_bib0290","doi-asserted-by":"crossref","first-page":"3628","DOI":"10.1681\/ASN.2015091004","article-title":"Deletion of ADP ribosylation factor-like GTPase 13B leads to kidney cysts","volume":"27","author":"Li","year":"2016","journal-title":"J. Am. Soc. Nephrol."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0295","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":"10.1016\/j.semcdb.2020.05.003_bib0300","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. Invest."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0305","doi-asserted-by":"crossref","first-page":"2201","DOI":"10.1681\/ASN.2013070735","article-title":"Downregulating hedgehog signaling reduces renal cystogenic potential of mouse models","volume":"25","author":"Tran","year":"2014","journal-title":"J. Am. Soc. Nephrol."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0310","doi-asserted-by":"crossref","first-page":"2103","DOI":"10.1681\/ASN.2018121274","article-title":"Cell-autonomous hedgehog signaling is not required for cyst formation in autosomal dominant polycystic kidney disease","volume":"30","author":"Ma","year":"2019","journal-title":"J. Am. Soc. Nephrol."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0315","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1038\/34201","article-title":"Activating Smoothened mutations in sporadic basal-cell carcinoma","volume":"391","author":"Xie","year":"1998","journal-title":"Nature"},{"key":"10.1016\/j.semcdb.2020.05.003_bib0320","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":"Legue","year":"2019","journal-title":"Curr. Biol."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0325","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1083\/jcb.201607095","article-title":"Tubby family proteins are adapters for ciliary trafficking of integral membrane proteins","volume":"216","author":"Badgandi","year":"2017","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0330","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1016\/j.cub.2019.01.047","article-title":"Tulp3 regulates renal cystogenesis by trafficking of cystoproteins to cilia","volume":"29","author":"Hwang","year":"2019","journal-title":"Curr. Biol."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0335","first-page":"9","article-title":"Primary cilia and mammalian hedgehog signaling","author":"Bangs","year":"2017","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0340","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1126\/science.1139740","article-title":"Patched1 regulates hedgehog signaling at the primary cilium","volume":"317","author":"Rohatgi","year":"2007","journal-title":"Science"},{"key":"10.1016\/j.semcdb.2020.05.003_bib0345","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1016\/j.ajhg.2018.03.013","article-title":"Monoallelic mutations to DNAJB11 cause atypical autosomal-dominant polycystic kidney disease","volume":"102","author":"Cornec-Le Gall","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0350","doi-asserted-by":"crossref","first-page":"1955","DOI":"10.1172\/JCI78863","article-title":"Sec63 and Xbp1 regulate IRE1alpha activity and polycystic disease severity","volume":"125","author":"Fedeles","year":"2015","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0355","doi-asserted-by":"crossref","first-page":"5129","DOI":"10.1172\/JCI67273","article-title":"Altered trafficking and stability of polycystins underlie polycystic kidney disease","volume":"124","author":"Cai","year":"2014","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0360","doi-asserted-by":"crossref","first-page":"1383","DOI":"10.1242\/jcs.02818","article-title":"Polycystin-2 traffics to cilia independently of polycystin-1 by using an N-terminal RVxP motif","volume":"119","author":"Geng","year":"2006","journal-title":"J. Cell. Sci."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0365","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1038\/emboj.2008.267","article-title":"Ciliary targeting motif VxPx directs assembly of a trafficking module through Arf4","volume":"28","author":"Mazelova","year":"2009","journal-title":"EMBO J."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0370","doi-asserted-by":"crossref","first-page":"4072","DOI":"10.1038\/s41467-019-12067-y","article-title":"Ciliary exclusion of Polycystin-2 promotes kidney cystogenesis in an autosomal dominant polycystic kidney disease model","volume":"10","author":"Walker","year":"2019","journal-title":"Nat. Commun."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0375","doi-asserted-by":"crossref","first-page":"18688","DOI":"10.1073\/pnas.0708217104","article-title":"Essential role of cleavage of Polycystin-1 at G protein-coupled receptor proteolytic site for kidney tubular structure","volume":"104","author":"Yu","year":"2007","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0380","doi-asserted-by":"crossref","first-page":"1334","DOI":"10.1038\/emboj.2012.51","article-title":"A GAIN in understanding autoproteolytic G protein-coupled receptors and polycystic kidney disease proteins","volume":"31","author":"Tesmer","year":"2012","journal-title":"EMBO J."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0385","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1172\/JCI76972","article-title":"Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner","volume":"125","author":"Gainullin","year":"2015","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0390","first-page":"3","article-title":"Cystic fibrosis transmembrane regulator correctors and potentiators","author":"Rowe","year":"2013","journal-title":"Cold Spring Harb. Perspect. Med."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0395","doi-asserted-by":"crossref","first-page":"5482","DOI":"10.1038\/ncomms6482","article-title":"Ciliary membrane proteins traffic through the Golgi via a Rabep1\/GGA1\/Arl3-dependent mechanism","volume":"5","author":"Kim","year":"2014","journal-title":"Nat. Commun."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0400","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":"Garcia-Gonzalez","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0405","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":"10.1016\/j.semcdb.2020.05.003_bib0410","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/j.molmed.2014.01.004","article-title":"Polycystin-1: a master regulator of intersecting cystic pathways","volume":"20","author":"Fedeles","year":"2014","journal-title":"Trends Mol. Med."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0415","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":"10.1016\/j.semcdb.2020.05.003_bib0420","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":"10.1016\/j.semcdb.2020.05.003_bib0425","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1038\/ng1701","article-title":"Defective planar cell polarity in polycystic kidney disease","volume":"38","author":"Fischer","year":"2006","journal-title":"Nat. Genet."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0430","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":"10.1016\/j.semcdb.2020.05.003_bib0435","doi-asserted-by":"crossref","first-page":"1010","DOI":"10.1038\/ng.179","article-title":"Loss of Fat4 disrupts PCP signaling and oriented cell division and leads to cystic kidney disease","volume":"40","author":"Saburi","year":"2008","journal-title":"Nat. Genet."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0440","doi-asserted-by":"crossref","first-page":"1615","DOI":"10.1007\/s00467-019-04267-x","article-title":"Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families","volume":"34","author":"Al-Hamed","year":"2019","journal-title":"Pediatr. Nephrol."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0445","doi-asserted-by":"crossref","first-page":"2217","DOI":"10.1007\/s00467-013-2484-x","article-title":"Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease","volume":"28","author":"Gilbert","year":"2013","journal-title":"Pediatr. Nephrol."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0450","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":"10.1016\/j.semcdb.2020.05.003_bib0455","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1038\/ng.832","article-title":"Complex interactions between genes controlling trafficking in primary cilia","volume":"43","author":"Ocbina","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0460","doi-asserted-by":"crossref","first-page":"1233","DOI":"10.1172\/JCI60981","article-title":"Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis","volume":"122","author":"Rachel","year":"2012","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.semcdb.2020.05.003_bib0465","doi-asserted-by":"crossref","first-page":"3642","DOI":"10.1172\/JCI99232","article-title":"Eupatilin rescues ciliary transition zone defects to ameliorate ciliopathy-related phenotypes","volume":"128","author":"Kim","year":"2018","journal-title":"J. Clin. Invest."}],"container-title":["Seminars in Cell & Developmental Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1084952119301685?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1084952119301685?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T16:59:14Z","timestamp":1761065954000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1084952119301685"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2]]},"references-count":93,"alternative-id":["S1084952119301685"],"URL":"https:\/\/doi.org\/10.1016\/j.semcdb.2020.05.003","relation":{},"ISSN":["1084-9521"],"issn-type":[{"value":"1084-9521","type":"print"}],"subject":[],"published":{"date-parts":[[2021,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Cilia and polycystic kidney disease","name":"articletitle","label":"Article Title"},{"value":"Seminars in Cell & Developmental Biology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.semcdb.2020.05.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}