{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T12:16:56Z","timestamp":1791548216569,"version":"4.3.4"},"reference-count":74,"publisher":"The Company of Biologists","issue":"5","license":[{"start":{"date-parts":[[2021,3,30]],"date-time":"2021-03-30T00:00:00Z","timestamp":1617062400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100006587","name":"GIS-Institut des Maladies Rares","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100006587","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Institut Clinique de la Souris"},{"name":"Agence National de la Recherche","award":["Blan06-2_139420"],"award-info":[{"award-number":["Blan06-2_139420"]}]},{"DOI":"10.13039\/501100001677","name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Seventh Framework Programme","award":["238821"],"award-info":[{"award-number":["238821"]}]},{"DOI":"10.13039\/100010661","name":"Horizon 2020","doi-asserted-by":"crossref","award":["642937"],"award-info":[{"award-number":["642937"]}],"id":[{"id":"10.13039\/100010661","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100004794","name":"Centre National de la Recherche Scientifique","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100004794","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100019125","name":"Sorbonne Universit\u00e9","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100019125","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Innovative Training Network RENALTRACT","award":["MSCA-ITN-2014-642937"],"award-info":[{"award-number":["MSCA-ITN-2014-642937"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,5,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Heterozygous mutations in HNF1B cause the complex syndrome renal cysts and diabetes (RCAD), characterized by developmental abnormalities of the kidneys, genital tracts and pancreas, and a variety of renal, pancreas and liver dysfunctions. The pathogenesis underlying this syndrome remains unclear as mice with heterozygous null mutations have no phenotype, while constitutive\/conditional Hnf1b ablation leads to more severe phenotypes. We generated a novel mouse model carrying an identified human mutation at the intron-2 splice donor site. Unlike heterozygous mice previously characterized, mice heterozygous for the splicing mutation exhibited decreased HNF1B protein levels and bilateral renal cysts from embryonic day 15, originated from glomeruli, early proximal tubules (PTs) and intermediate nephron segments, concurrently with delayed PT differentiation, hydronephrosis and rare genital tract anomalies. Consistently, mRNA sequencing showed that most downregulated genes in embryonic kidneys were primarily expressed in early PTs and the loop of Henle and involved in ion\/drug transport, organic acid and lipid metabolic processes, while the expression of previously identified targets upon Hnf1b ablation, including cystic disease genes, was weakly or not affected. Postnatal analyses revealed renal abnormalities, ranging from glomerular cysts to hydronephrosis and, rarely, multicystic dysplasia. Urinary proteomics uncovered a particular profile predictive of progressive decline in kidney function and fibrosis, and displayed common features with a recently reported urine proteome in an RCAD pediatric cohort. Altogether, our results show that reduced HNF1B levels lead to developmental disease phenotypes associated with the deregulation of a subset of HNF1B targets. They further suggest that this model represents a unique clinical\/pathological viable model of the RCAD disease.<\/jats:p>","DOI":"10.1242\/dmm.047498","type":"journal-article","created":{"date-parts":[[2021,3,18]],"date-time":"2021-03-18T06:50:12Z","timestamp":1616050212000},"source":"Crossref","is-referenced-by-count":34,"title":["<i>Hnf1b<\/i>\n                    haploinsufficiency differentially affects developmental target genes in a new renal cysts and diabetes mouse model"],"prefix":"10.1242","volume":"14","author":[{"given":"Leticia L.","family":"Niborski","sequence":"first","affiliation":[{"name":"Sorbonne Universit\u00e9, CNRS, Institut de Biologie Paris Seine, Laboratoire de Biologie du D\u00e9veloppement, IBPS, UMR7622, F-75005 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e9lanie","family":"Paces-Fessy","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, CNRS, Institut de Biologie Paris Seine, Laboratoire de Biologie du D\u00e9veloppement, IBPS, UMR7622, F-75005 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierbruno","family":"Ricci","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, CNRS, Institut de Biologie Paris Seine, Laboratoire de Biologie du D\u00e9veloppement, IBPS, UMR7622, F-75005 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9848-2885","authenticated-orcid":false,"given":"Adeline","family":"Bourgeois","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, CNRS, Institut de Biologie Paris Seine, Laboratoire de Biologie du D\u00e9veloppement, IBPS, UMR7622, F-75005 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pedro","family":"Magalh\u00e3es","sequence":"additional","affiliation":[{"name":"Mosaiques Diagnostics, 30659 Hannover, Germany"},{"name":"Department of Pediatric Nephrology, Hannover Medical School, 30625 Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1698-7295","authenticated-orcid":false,"given":"Maria","family":"Kuzma-Kuzniarska","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, CNRS, Institut de Biologie Paris Seine, Laboratoire de Biologie du D\u00e9veloppement, IBPS, UMR7622, F-75005 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celine","family":"Lesaulnier","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, CNRS, Institut de Biologie Paris Seine, Laboratoire de Biologie du D\u00e9veloppement, IBPS, UMR7622, F-75005 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Reczko","sequence":"additional","affiliation":[{"name":"Biomedical Sciences Research Center Alexander Fleming, Institute for Fundamental Biomedical Science, 16672 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwige","family":"Declercq","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, CNRS, Institut de Biologie Paris Seine, Laboratoire de Biologie du D\u00e9veloppement, IBPS, UMR7622, F-75005 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"Z\u00fcrbig","sequence":"additional","affiliation":[{"name":"Mosaiques Diagnostics, 30659 Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Doucet","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Universit\u00e9 Paris Descartes, UMRS 1138, CNRS, ERL 8228, Centre de Recherche des Cordeliers, F-75006 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muriel","family":"Umbhauer","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, CNRS, Institut de Biologie Paris Seine, Laboratoire de Biologie du D\u00e9veloppement, IBPS, UMR7622, F-75005 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1562-089X","authenticated-orcid":false,"given":"Silvia","family":"Cereghini","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, CNRS, Institut de Biologie Paris Seine, Laboratoire de Biologie du D\u00e9veloppement, IBPS, UMR7622, F-75005 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2021,5,4]]},"reference":[{"key":"2021050411143569700_DMM047498C1","doi-asserted-by":"publisher","first-page":"2887","DOI":"10.1681\/ASN.2016101095","article-title":"Hepatocyte Nuclear Factor-1beta regulates urinary concentration and response to hypertonicity","volume":"28","author":"Aboudehen","year":"2017","journal-title":"J. Am. Soc. Nephrol."},{"key":"2021050411143569700_DMM047498C2","doi-asserted-by":"publisher","first-page":"1123","DOI":"10.1681\/ASN.2008060633","article-title":"HNF1B mutations associate with hypomagnesemia and renal magnesium wasting","volume":"20","author":"Adalat","year":"2009","journal-title":"J. Am. Soc. Nephrol."},{"key":"2021050411143569700_DMM047498C3","doi-asserted-by":"publisher","first-page":"1304","DOI":"10.1016\/j.ekir.2019.05.019","article-title":"HNF1B mutations are associated with a Gitelman-like tubulopathy that develops during childhood","volume":"4","author":"Adalat","year":"2019","journal-title":"Kidney Int. Rep."},{"key":"2021050411143569700_DMM047498C4","doi-asserted-by":"publisher","first-page":"e469","DOI":"10.1097\/MD.0000000000000469","article-title":"A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update","volume":"94","author":"Alvelos","year":"2015","journal-title":"Medicine (Baltim.)"},{"key":"2021050411143569700_DMM047498C5","doi-asserted-by":"publisher","first-page":"636","DOI":"10.1038\/ng1807","article-title":"Noise in protein expression scales with natural protein abundance","volume":"38","author":"Bar-Even","year":"2006","journal-title":"Nat. Genet."},{"key":"2021050411143569700_DMM047498C6","doi-asserted-by":"crossref","first-page":"4795","DOI":"10.1242\/dev.126.21.4795","article-title":"Variant hepatocyte nuclear factor 1 is required for visceral endoderm specification","volume":"126","author":"Barbacci","year":"1999","journal-title":"Development"},{"key":"2021050411143569700_DMM047498C7","doi-asserted-by":"publisher","first-page":"3139","DOI":"10.1093\/hmg\/ddh338","article-title":"HNF1\u03b2\/TCF2 mutations impair transactivation potential through altered co-regulator recruitment","volume":"13","author":"Barbacci","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"2021050411143569700_DMM047498C8","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1016\/j.yjmcc.2014.11.018","article-title":"Haploinsufficiency of MYBPC3 exacerbates the development of hypertrophic cardiomyopathy in heterozygous mice","volume":"79","author":"Barefield","year":"2015","journal-title":"J. Mol. Cell. Cardiol."},{"key":"2021050411143569700_DMM047498C9","doi-asserted-by":"publisher","first-page":"510","DOI":"10.7326\/0003-4819-140-7-200404060-00009","article-title":"Clinical spectrum associated with hepatocyte nuclear factor-1\u03b2 mutations","volume":"140","author":"Bellann\u00e9-Chantelot","year":"2004","journal-title":"Ann. Intern. Med."},{"key":"2021050411143569700_DMM047498C11","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1086\/316945","article-title":"Mutations in the hepatocyte nuclear factor-1\u03b2 gene are associated with familial hypoplastic glomerulocystic kidney disease","volume":"68","author":"Bingham","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"2021050411143569700_DMM047498C12","doi-asserted-by":"publisher","first-page":"1645","DOI":"10.1046\/j.1523-1755.2003.00903.x","article-title":"Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1\u03b2 gene mutation","volume":"63","author":"Bingham","year":"2003","journal-title":"Kidney Int."},{"key":"2021050411143569700_DMM047498C13","doi-asserted-by":"publisher","first-page":"e1000970","DOI":"10.1371\/journal.pgen.1000970","article-title":"Epistasis of transcriptomes reveals synergism between transcriptional activators Hnf1alpha and Hnf4alpha","volume":"6","author":"Boj","year":"2010","journal-title":"PLoS Genet."},{"key":"2021050411143569700_DMM047498C14","doi-asserted-by":"publisher","first-page":"2343","DOI":"10.1210\/me.2010-0130","article-title":"Metabolomics identifies novel Hnf1\u03b1-dependent physiological pathways in vivo","volume":"24","author":"Bonzo","year":"2010","journal-title":"Mol. Endocrinol."},{"key":"2021050411143569700_DMM047498C15","doi-asserted-by":"publisher","first-page":"3205","DOI":"10.1681\/ASN.2016050508","article-title":"Hepatocyte nuclear factor-1\u03b2 controls mitochondrial respiration in renal tubular cells","volume":"28","author":"Casemayou","year":"2017","journal-title":"J. Am. Soc. Nephrol."},{"key":"2021050411143569700_DMM047498C16","doi-asserted-by":"publisher","first-page":"W305","DOI":"10.1093\/nar\/gkp427","article-title":"ToppGene Suite for gene list enrichment analysis and candidate gene prioritization","volume":"37","author":"Chen","year":"2009","journal-title":"Nucleic Acids Res."},{"key":"2021050411143569700_DMM047498C17","first-page":"3326","article-title":"Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome\/maturity onset diabetes of the young type 5","volume":"123","author":"Chen","year":"2010","journal-title":"Chin. Med. J."},{"key":"2021050411143569700_DMM047498C18","doi-asserted-by":"publisher","first-page":"1042","DOI":"10.1681\/ASN.2014121217","article-title":"HANAC Syndrome Col4a1 mutation causes neonate glomerular hyperpermeability and adult glomerulocystic kidney disease","volume":"27","author":"Chen","year":"2016","journal-title":"J. Am. Soc. Nephrol."},{"key":"2021050411143569700_DMM047498C19","doi-asserted-by":"publisher","first-page":"102","DOI":"10.1038\/nrneph.2014.232","article-title":"HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum","volume":"11","author":"Clissold","year":"2015","journal-title":"Nat. Rev. Nephrol."},{"key":"2021050411143569700_DMM047498C20","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1016\/S0925-4773(99)00221-X","article-title":"Expression of the vHNF1\/HNF1\u03b2 homeoprotein gene during mouse organogenesis","volume":"89","author":"Coffinier","year":"1999","journal-title":"Mech. Dev."},{"key":"2021050411143569700_DMM047498C21","doi-asserted-by":"crossref","first-page":"1829","DOI":"10.1242\/dev.129.8.1829","article-title":"Bile system morphogenesis defects and liver dysfunction upon targeted deletion of HNF1beta","volume":"129","author":"Coffinier","year":"2002","journal-title":"Development"},{"key":"2021050411143569700_DMM047498C22","doi-asserted-by":"publisher","first-page":"964","DOI":"10.1002\/prca.200800024","article-title":"CE-MS analysis of the human urinary proteome for biomarker discovery and disease diagnostics","volume":"2","author":"Coon","year":"2008","journal-title":"Proteomics Clin. Appl."},{"key":"2021050411143569700_DMM047498C23","doi-asserted-by":"publisher","first-page":"805","DOI":"10.1016\/j.lfs.2013.10.011","article-title":"Hepatocyte nuclear factors 1\u03b1\/4\u03b1 and forkhead box A2 regulate the solute carrier 2A2 (Slc2a2) gene expression in the liver and kidney of diabetic rats","volume":"93","author":"David-Silva","year":"2013","journal-title":"Life Sci."},{"key":"2021050411143569700_DMM047498C24","doi-asserted-by":"publisher","first-page":"871","DOI":"10.1242\/dev.110759","article-title":"Hnf1b controls pancreas morphogenesis and the generation of Ngn3+ endocrine progenitors","volume":"142","author":"De Vas","year":"2015","journal-title":"Development"},{"key":"2021050411143569700_DMM047498C25","doi-asserted-by":"publisher","first-page":"4704","DOI":"10.1242\/dev.154336","article-title":"HNF1B controls epithelial organization and cell polarity during ureteric bud branching and collecting duct morphogenesis","volume":"144","author":"Desgrange","year":"2017","journal-title":"Development"},{"key":"2021050411143569700_DMM047498C26","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1038\/s41572-019-0109-9","article-title":"Autosomal dominant tubulointerstitial kidney disease","volume":"5","author":"Devuyst","year":"2019","journal-title":"Nat. Rev. Dis. Primers"},{"key":"2021050411143569700_DMM047498C27","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1136\/jmg.2005.032854","article-title":"Mutations in hepatocyte nuclear factor-1beta and their related phenotypes","volume":"43","author":"Edghill","year":"2006","journal-title":"J. Med. Genet."},{"key":"2021050411143569700_DMM047498C28","doi-asserted-by":"publisher","first-page":"c71","DOI":"10.1159\/000334954","article-title":"Expression of renal cystic genes in patients with HNF1B mutations","volume":"120","author":"Faguer","year":"2012","journal-title":"Nephron Clin. Pract."},{"key":"2021050411143569700_DMM047498C29","doi-asserted-by":"publisher","first-page":"1325","DOI":"10.1007\/s00467-018-3990-7","article-title":"New insights into the role of HNF-1\u03b2 in kidney (patho)physiology","volume":"34","author":"Ferr\u00e8","year":"2018","journal-title":"Pediatr. Nephrol."},{"key":"2021050411143569700_DMM047498C30","doi-asserted-by":"publisher","first-page":"108304","DOI":"10.1016\/j.celrep.2020.108304","article-title":"Developmental renal glomerular defects at the origin of glomerulocystic disease","volume":"33","author":"Fiorentino","year":"2020","journal-title":"Cell Rep."},{"key":"2021050411143569700_DMM047498C31","doi-asserted-by":"publisher","first-page":"1657","DOI":"10.1038\/sj.emboj.7600160","article-title":"A transcriptional network in polycystic kidney disease","volume":"23","author":"Gresh","year":"2004","journal-title":"EMBO J."},{"key":"2021050411143569700_DMM047498C32","doi-asserted-by":"publisher","first-page":"782","DOI":"10.1111\/j.1464-5491.2008.02460.x","article-title":"Lack of pancreatic body and tail in HNF1B mutation carriers","volume":"25","author":"Haldorsen","year":"2008","journal-title":"Diabet Med."},{"key":"2021050411143569700_DMM047498C33","doi-asserted-by":"publisher","first-page":"937","DOI":"10.1007\/s00125-004-1383-x","article-title":"Abnormal splicing of hepatocyte nuclear factor-1 beta in the renal cysts and diabetes syndrome","volume":"47","author":"Harries","year":"2004","journal-title":"Diabetologia"},{"key":"2021050411143569700_DMM047498C34","doi-asserted-by":"publisher","first-page":"214","DOI":"10.1007\/s00439-005-0023-y","article-title":"The position of premature termination codons in the hepatocyte nuclear factor \u22121 beta gene determines susceptibility to nonsense-mediated decay","volume":"118","author":"Harries","year":"2005","journal-title":"Hum. Genet."},{"key":"2021050411143569700_DMM047498C35","doi-asserted-by":"publisher","first-page":"1490","DOI":"10.1073\/pnas.0405776102","article-title":"Lack of TCF2\/vHNF1 in mice leads to pancreas agenesis","volume":"102","author":"Haumaitre","year":"2005","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2021050411143569700_DMM047498C36","doi-asserted-by":"publisher","first-page":"2363","DOI":"10.1093\/hmg\/ddl161","article-title":"Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1\u03b2\/MODY5 mutations","volume":"15","author":"Haumaitre","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"2021050411143569700_DMM047498C37","doi-asserted-by":"publisher","first-page":"1079","DOI":"10.2215\/CJN.06810909","article-title":"Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases","volume":"5","author":"Heidet","year":"2010","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"2021050411143569700_DMM047498C38","doi-asserted-by":"publisher","first-page":"873","DOI":"10.1242\/dev.086538","article-title":"HNF1B controls proximal-intermediate nephron segment identity in vertebrates by regulating Notch signalling components and Irx1\/2","volume":"140","author":"Heliot","year":"2013","journal-title":"Development"},{"key":"2021050411143569700_DMM047498C39","doi-asserted-by":"publisher","first-page":"10578","DOI":"10.1074\/jbc.M414121200","article-title":"Role of the hepatocyte nuclear factor-1\u03b2 (HNF-1\u03b2) C-terminal domain in Pkhd1 (ARPKD) gene transcription and renal cystogenesis","volume":"280","author":"Hiesberger","year":"2005","journal-title":"J. Biol. Chem."},{"key":"2021050411143569700_DMM047498C40","doi-asserted-by":"publisher","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":"2021050411143569700_DMM047498C41","doi-asserted-by":"publisher","first-page":"2144","DOI":"10.2337\/diacare.21.12.2144","article-title":"Liver and kidney function in Japanese patients with maturity-onset diabetes of the young","volume":"21","author":"Iwasaki","year":"1998","journal-title":"Diabetes Care"},{"key":"2021050411143569700_DMM047498C42","doi-asserted-by":"publisher","first-page":"1774","DOI":"10.1111\/brv.12527","article-title":"Causes and effects of haploinsufficiency","volume":"94","author":"Johnson","year":"2019","journal-title":"Biol. Rev. Camb. Philos. Soc."},{"key":"2021050411143569700_DMM047498C43","doi-asserted-by":"publisher","first-page":"2075","DOI":"10.1210\/jc.2017-00061","article-title":"Biliary anomalies in patients with HNF1B diabetes","volume":"102","author":"Kettunen","year":"2017","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"2021050411143569700_DMM047498C44","doi-asserted-by":"publisher","first-page":"1619","DOI":"10.1124\/mol.107.039701","article-title":"Regulation of tissue-specific expression of the human and mouse urate transporter 1 gene by hepatocyte nuclear factor 1 \u03b1\/\u03b2 and DNA methylation","volume":"72","author":"Kikuchi","year":"2007","journal-title":"Mol. Pharmacol."},{"key":"2021050411143569700_DMM047498C45","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1038\/nature11793","article-title":"Obesity-induced overexpression of miR-802 impairs glucose metabolism through silencing of Hnf1b","volume":"494","author":"Kornfeld","year":"2013","journal-title":"Nature"},{"key":"2021050411143569700_DMM047498C46","doi-asserted-by":"publisher","first-page":"2293","DOI":"10.1101\/gad.390906","article-title":"Plasticity and expanding complexity of the hepatic transcription factor network during liver development","volume":"20","author":"Kyrmizi","year":"2006","journal-title":"Genes Dev."},{"key":"2021050411143569700_DMM047498C47","doi-asserted-by":"publisher","first-page":"3059","DOI":"10.1128\/MCB.18.5.3059","article-title":"Laron dwarfism and non-insulin-dependent diabetes mellitus in the Hnf-1\u03b1 knockout mouse","volume":"18","author":"Lee","year":"1998","journal-title":"Mol. Cell. Biol."},{"key":"2021050411143569700_DMM047498C48","doi-asserted-by":"publisher","first-page":"583","DOI":"10.5858\/134.4.583","article-title":"Glomerulocystic kidney: one hundred-year perspective","volume":"134","author":"Lennerz","year":"2010","journal-title":"Arch. Pathol. Lab. Med."},{"key":"2021050411143569700_DMM047498C49","doi-asserted-by":"publisher","first-page":"2001","DOI":"10.1093\/hmg\/8.11.2001","article-title":"A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta","volume":"8","author":"Lindner","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"2021050411143569700_DMM047498C50","doi-asserted-by":"publisher","first-page":"2777","DOI":"10.1242\/dev.023010","article-title":"Crucial role of vHNF1 in vertebrate hepatic specification","volume":"135","author":"Lokmane","year":"2008","journal-title":"Development"},{"key":"2021050411143569700_DMM047498C51","doi-asserted-by":"publisher","first-page":"347","DOI":"10.1242\/dev.042226","article-title":"vHNF1 functions in distinct regulatory circuits to control ureteric bud branching and early nephrogenesis","volume":"137","author":"Lokmane","year":"2010","journal-title":"Development"},{"key":"2021050411143569700_DMM047498C52","doi-asserted-by":"publisher","first-page":"2543","DOI":"10.1681\/ASN.2020020184","article-title":"Hnf4a Is Required for the Development of Cdh6-Expressing Progenitors into Proximal Tubules in the Mouse Kidney","volume":"31","author":"Marable","year":"2020","journal-title":"J. Am. Soc. Nephrol."},{"key":"2021050411143569700_DMM047498C53","doi-asserted-by":"publisher","first-page":"808","DOI":"10.1124\/mol.113.088229","article-title":"Hepatocyte nuclear factors 4\u03b1 and 1\u03b1 regulate kidney developmental expression of drug-metabolizing enzymes and drug transporters","volume":"84","author":"Martovetsky","year":"2013","journal-title":"Mol. Pharmacol."},{"key":"2021050411143569700_DMM047498C54","doi-asserted-by":"publisher","first-page":"886","DOI":"10.1242\/dev.086546","article-title":"Hepatocyte nuclear factor 1\u03b2 controls nephron tubular development","volume":"140","author":"Massa","year":"2013","journal-title":"Development"},{"key":"2021050411143569700_DMM047498C55","doi-asserted-by":"publisher","first-page":"2921","DOI":"10.1167\/iovs.12-9662","article-title":"The Rd8 mutation of the Crb1 gene is present in vendor lines of C57BL\/6N mice and embryonic stem cells, and confounds ocular induced mutant phenotypes","volume":"53","author":"Mattapallil","year":"2012","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"2021050411143569700_DMM047498C56","doi-asserted-by":"publisher","first-page":"5431","DOI":"10.1073\/pnas.92.12.5431","article-title":"Translational termination efficiency in mammals is influenced by the base following the stop codon","volume":"92","author":"McCaughan","year":"1995","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2021050411143569700_DMM047498C57","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1111\/j.1469-7580.2006.00670.x","article-title":"The lectin Dolichos biflorus agglutinin is a sensitive indicator of branching morphogenetic activity in the developing mouse metanephric collecting duct system","volume":"210","author":"Michael","year":"2007","journal-title":"J. Anat."},{"key":"2021050411143569700_DMM047498C58","doi-asserted-by":"publisher","first-page":"432","DOI":"10.1016\/j.clinbiochem.2012.09.025","article-title":"Technical aspects and inter-laboratory variability in native peptide profiling: the CE-MS experience","volume":"46","author":"Mischak","year":"2013","journal-title":"Clin. Biochem."},{"key":"2021050411143569700_DMM047498C59","doi-asserted-by":"publisher","first-page":"e25","DOI":"10.1093\/nar\/gku1273","article-title":"Systematic integration of RNA-Seq statistical algorithms for accurate detection of differential gene expression patterns","volume":"43","author":"Moulos","year":"2015","journal-title":"Nucleic Acids Res."},{"key":"2021050411143569700_DMM047498C60","doi-asserted-by":"publisher","first-page":"1073","DOI":"10.1007\/s00467-010-1454-9","article-title":"HNF1B alterations associated with congenital anomalies of the kidney and urinary tract","volume":"25","author":"Nakayama","year":"2010","journal-title":"Pediatr. Nephrol."},{"key":"2021050411143569700_DMM047498C61","doi-asserted-by":"publisher","first-page":"3143","DOI":"10.1093\/hmg\/dds141","article-title":"Hnf1b and Pax2 cooperate to control different pathways in kidney and ureter morphogenesis","volume":"21","author":"Paces-Fessy","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"2021050411143569700_DMM047498C62","doi-asserted-by":"publisher","DOI":"10.1002\/path.5629","article-title":"Insights into the etiology and physiopathology of MODY5\/HNF1B pancreatic phenotype with a mouse model of the human disease","author":"Quilichini","year":"2021","journal-title":"J. Pathol"},{"key":"2021050411143569700_DMM047498C63","doi-asserted-by":"publisher","first-page":"2225","DOI":"10.1038\/s41598-019-38713-5","article-title":"Urinary proteome signature of Renal Cysts and Diabetes syndrome in children","volume":"9","author":"Ricci","year":"2019","journal-title":"Sci. Rep."},{"key":"2021050411143569700_DMM047498C64","doi-asserted-by":"publisher","first-page":"1519","DOI":"10.1172\/JCI34211","article-title":"Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay","volume":"118","author":"Rio Frio","year":"2008","journal-title":"J. Clin. Invest."},{"key":"2021050411143569700_DMM047498C65","doi-asserted-by":"publisher","first-page":"697","DOI":"10.1038\/s41580-018-0040-z","article-title":"Regulation of proteasome assembly and activity in health and disease","volume":"19","author":"Rousseau","year":"2018","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"2021050411143569700_DMM047498C66","doi-asserted-by":"publisher","first-page":"784","DOI":"10.1124\/jpet.107.128249","article-title":"Transcriptional regulation of human and mouse organic anion transporter 1 by hepatocyte nuclear factor 1 \u03b1\/\u03b2","volume":"324","author":"Saji","year":"2008","journal-title":"J. Pharmacol. Exp. Ther."},{"key":"2021050411143569700_DMM047498C67","doi-asserted-by":"publisher","first-page":"109568","DOI":"10.1016\/j.cellsig.2020.109568","article-title":"Role of transcription factor hepatocyte nuclear factor-1\u03b2 in polycystic kidney disease","volume":"71","author":"Shao","year":"2020","journal-title":"Cell. Signal."},{"key":"2021050411143569700_DMM047498C68","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1002\/prca.201000155","article-title":"Human urinary peptide database for multiple disease biomarker discovery","volume":"5","author":"Siwy","year":"2011","journal-title":"Proteomics Clin. Appl."},{"key":"2021050411143569700_DMM047498C69","doi-asserted-by":"publisher","first-page":"1075","DOI":"10.1016\/j.kint.2016.01.027","article-title":"Tubular proteinuria in patients with HNF1\u03b1 mutations: HNF1\u03b1 drives endocytosis in the proximal tubule","volume":"89","author":"Terryn","year":"2016","journal-title":"Kidney Int."},{"key":"2021050411143569700_DMM047498C70","doi-asserted-by":"publisher","first-page":"e17286","DOI":"10.1371\/journal.pone.0017286","article-title":"Identification of anchor genes during kidney development defines ontological relationships, molecular subcompartments and regulatory pathways","volume":"6","author":"Thiagarajan","year":"2011","journal-title":"PLoS ONE"},{"key":"2021050411143569700_DMM047498C71","doi-asserted-by":"publisher","first-page":"2293","DOI":"10.1021\/acs.jproteome.7b00821","article-title":"Metabolic profiling of multi-organ samples: evaluation of MODY5\/RCAD mutant mice","volume":"17","author":"Torell","year":"2018","journal-title":"J. Proteome Res."},{"key":"2021050411143569700_DMM047498C72","doi-asserted-by":"publisher","first-page":"M111 013847","DOI":"10.1074\/mcp.M111.013847","article-title":"Urine proteome analysis reflects atherosclerotic disease in an ApoE\u2212\/\u2212 mouse model and allows the discovery of new candidate biomarkers in mouse and human atherosclerosis","volume":"11","author":"von zur Muhlen","year":"2012","journal-title":"Mol. Cell. Proteomics"},{"key":"2021050411143569700_DMM047498C73","doi-asserted-by":"publisher","first-page":"1239","DOI":"10.1016\/j.bbadis.2011.05.008","article-title":"Apico-basal polarity in polycystic kidney disease epithelia","volume":"1812","author":"Wilson","year":"2011","journal-title":"Biochim. Biophys. Acta"},{"key":"2021050411143569700_DMM047498C74","doi-asserted-by":"publisher","first-page":"e109","DOI":"10.1371\/journal.pbio.0050109","article-title":"Selective translational repression of truncated proteins from frameshift mutation-derived mRNAs in tumors","volume":"5","author":"You","year":"2007","journal-title":"PLoS Biol."},{"key":"2021050411143569700_DMM047498C75","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1186\/s13578-015-0049-3","article-title":"A review on hepatocyte nuclear factor-1beta and tumor","volume":"5","author":"Yu","year":"2015","journal-title":"Cell Biosci"}],"container-title":["Disease Models &amp; Mechanisms"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1242\/dmm.047498","content-type":"unspecified","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/journals.biologists.com\/dmm\/article-pdf\/doi\/10.1242\/dmm.047498\/1804824\/dmm047498.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"http:\/\/journals.biologists.com\/dmm\/article-pdf\/doi\/10.1242\/dmm.047498\/2028100\/dmm047498.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/journals.biologists.com\/dmm\/article-pdf\/doi\/10.1242\/dmm.047498\/2028100\/dmm047498.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,5,4]],"date-time":"2021-05-04T07:15:28Z","timestamp":1620112528000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.biologists.com\/dmm\/article\/14\/5\/dmm047498\/237748\/Hnf1b-haploinsufficiency-differentially-affects"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5,1]]},"references-count":74,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2021,5,1]]}},"URL":"https:\/\/doi.org\/10.1242\/dmm.047498","relation":{},"ISSN":["1754-8403","1754-8411"],"issn-type":[{"value":"1754-8403","type":"print"},{"value":"1754-8411","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,5,1]]},"article-number":"dmm047498"}}