{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T18:18:04Z","timestamp":1785176284413,"version":"3.55.0"},"reference-count":42,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2009,7,1]],"date-time":"2009-07-01T00:00:00Z","timestamp":1246406400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Archives de P\u00e9diatrie"],"published-print":{"date-parts":[[2009,7]]},"DOI":"10.1016\/j.arcped.2009.02.023","type":"journal-article","created":{"date-parts":[[2009,4,10]],"date-time":"2009-04-10T08:23:18Z","timestamp":1239351798000},"page":"1049-1056","source":"Crossref","is-referenced-by-count":9,"title":["Les anomalies de l\u2019hepatocyte nuclear factor (HNF)-1\u03b2\u00a0: m\u00e9canismes biologiques, ph\u00e9notypes et cons\u00e9quences cliniques"],"prefix":"10.1016","volume":"16","author":[{"given":"T.","family":"Ulinski","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Bensman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Lescure","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.arcped.2009.02.023_bib1","doi-asserted-by":"crossref","first-page":"2175","DOI":"10.1681\/ASN.V12102175","article-title":"Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development","volume":"12","author":"Kolatsi-Joannou","year":"2001","journal-title":"J Am Soc Nephrol"},{"key":"10.1016\/j.arcped.2009.02.023_bib2","doi-asserted-by":"crossref","first-page":"2703","DOI":"10.1093\/ndt\/gfh348","article-title":"Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta","volume":"19","author":"Bingham","year":"2004","journal-title":"Nephrol Dial Transplant"},{"key":"10.1016\/j.arcped.2009.02.023_bib3","doi-asserted-by":"crossref","first-page":"1042","DOI":"10.1101\/gad.5.6.1042","article-title":"HNF-1 alpha and HNF-1 beta (vHNF-1) share dimerization and homeodomains, but not activation domains, and form heterodimers in vitro","volume":"5","author":"Mendel","year":"1991","journal-title":"Genes Dev"},{"key":"10.1016\/j.arcped.2009.02.023_bib4","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1677\/jme.0.0270011","article-title":"Mutations in the human genes encoding the transcription factors of the hepatocyte nuclear factor (HNF)1 and HNF4 families: functional and pathological consequences","volume":"27","author":"Ryffel","year":"2001","journal-title":"J Mol Endocrinol"},{"key":"10.1016\/j.arcped.2009.02.023_bib5","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1016\/S0925-4773(99)00221-X","article-title":"Expression of the vHNF1\/HNF1 beta homeoprotein gene during mouse organogenesis","volume":"89","author":"Coffinier","year":"1999","journal-title":"Mech Dev"},{"key":"10.1016\/j.arcped.2009.02.023_bib6","doi-asserted-by":"crossref","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":"10.1016\/j.arcped.2009.02.023_bib7","doi-asserted-by":"crossref","first-page":"2905","DOI":"10.1210\/jc.2003-031828","article-title":"Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism","volume":"89","author":"Yorifuji","year":"2004","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.arcped.2009.02.023_bib8","doi-asserted-by":"crossref","first-page":"3941","DOI":"10.1210\/en.2004-0281","article-title":"Selective deletion of the Hnf1beta (MODY5) gene in beta-cells leads to altered gene expression and defective insulin release","volume":"145","author":"Wang","year":"2004","journal-title":"Endocrinology"},{"key":"10.1016\/j.arcped.2009.02.023_bib9","doi-asserted-by":"crossref","first-page":"9","DOI":"10.2165\/00024677-200504010-00002","article-title":"Diagnosis and management of maturity-onset diabetes of the young","volume":"4","author":"Timsit","year":"2005","journal-title":"Treat Endocrinol"},{"key":"10.1016\/j.arcped.2009.02.023_bib10","doi-asserted-by":"crossref","first-page":"4695","DOI":"10.1073\/pnas.080010897","article-title":"The mutated human gene encoding hepatocyte nuclear factor 1beta inhibits kidney formation in developing Xenopus embryos","volume":"97","author":"Wild","year":"2000","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.arcped.2009.02.023_bib11","doi-asserted-by":"crossref","first-page":"4785","DOI":"10.1242\/dev.126.21.4785","article-title":"Essential role for the homeoprotein vHNF1\/HNF1beta in visceral endoderm differentiation","volume":"126","author":"Coffinier","year":"1999","journal-title":"Development"},{"key":"10.1016\/j.arcped.2009.02.023_bib12","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1056\/NEJMra002168","article-title":"Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young","volume":"345","author":"Fajans","year":"2001","journal-title":"N Engl J Med"},{"key":"10.1016\/j.arcped.2009.02.023_bib13","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1097\/00008480-200008000-00019","article-title":"Molecular and genetic bases for maturity onset diabetes of youth","volume":"12","author":"Winter","year":"2000","journal-title":"Curr Opin Pediatr"},{"key":"10.1016\/j.arcped.2009.02.023_bib14","doi-asserted-by":"crossref","first-page":"854","DOI":"10.1051\/medsci\/20031989854","article-title":"Le MODY\u00a0: mod\u00e8le d\u2019\u00e9tude d\u2019interactions g\u00e9notype\/ph\u00e9notype dans le diab\u00e8te de type 2","volume":"19","author":"Velho","year":"2003","journal-title":"Med Sci (Paris)"},{"key":"10.1016\/j.arcped.2009.02.023_bib15","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1053\/beem.2001.0148","article-title":"Maturity-onset diabetes of the young: from clinical description to molecular genetic characterization","volume":"15","author":"Owen","year":"2001","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"10.1016\/j.arcped.2009.02.023_bib16","doi-asserted-by":"crossref","first-page":"1445","DOI":"10.1002\/j.1460-2075.1991.tb07665.x","article-title":"vHNF1 is a homeoprotein that activates transcription and forms heterodimers with HNF1","volume":"10","author":"Rey-Campos","year":"1991","journal-title":"EMBO J"},{"key":"10.1016\/j.arcped.2009.02.023_bib17","doi-asserted-by":"crossref","first-page":"510","DOI":"10.7326\/0003-4819-140-7-200404060-00009","article-title":"Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations","volume":"140","author":"Bellann\u00e9-Chantelot","year":"2004","journal-title":"Ann Intern Med"},{"key":"10.1016\/j.arcped.2009.02.023_bib18","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1086\/316945","article-title":"Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease","volume":"68","author":"Bingham","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.arcped.2009.02.023_bib19","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1007\/s00467-001-0819-5","article-title":"Recent insights into kidney diseases associated with glomerular cysts","volume":"17","author":"Woolf","year":"2002","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.arcped.2009.02.023_bib20","doi-asserted-by":"crossref","first-page":"1243","DOI":"10.1046\/j.1523-1755.2002.00272.x","article-title":"Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations","volume":"61","author":"Bingham","year":"2002","journal-title":"Kidney Int"},{"key":"10.1016\/j.arcped.2009.02.023_bib21","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1053\/ajkd.2002.34538","article-title":"Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1 beta gene: description of a new family with associated liver involvement","volume":"40","author":"Montoli","year":"2002","journal-title":"Am J Kidney Dis"},{"key":"10.1016\/j.arcped.2009.02.023_bib22","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1007\/s125-002-8258-8","article-title":"A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes","volume":"45","author":"Carbone","year":"2002","journal-title":"Diabetologia"},{"key":"10.1016\/j.arcped.2009.02.023_bib23","doi-asserted-by":"crossref","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-1beta gene mutation","volume":"63","author":"Bingham","year":"2003","journal-title":"Kidney Int"},{"key":"10.1016\/j.arcped.2009.02.023_bib24","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1007\/s00467-002-0975-2","article-title":"De novo HNF-1 beta gene mutation in familial hypoplastic glomerulocystic kidney disease","volume":"17","author":"Mache","year":"2002","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.arcped.2009.02.023_bib25","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1046\/j.1523-1755.2003.00156.x","article-title":"Enlarged nephrons and severe nondiabetic nephropathy in hepatocyte nuclear factor-1beta (HNF-1beta) mutation carriers","volume":"64","author":"Sagen","year":"2003","journal-title":"Kidney Int"},{"key":"10.1016\/j.arcped.2009.02.023_bib26","doi-asserted-by":"crossref","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":"10.1016\/j.arcped.2009.02.023_bib27","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1038\/ng0803-355","article-title":"From cilia to cyst","volume":"34","author":"Watnick","year":"2003","journal-title":"Nat Genet"},{"key":"10.1016\/j.arcped.2009.02.023_bib28","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":"10.1016\/j.arcped.2009.02.023_bib29","doi-asserted-by":"crossref","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":"10.1016\/j.arcped.2009.02.023_bib30","doi-asserted-by":"crossref","first-page":"2700","DOI":"10.1093\/ndt\/gfh533","article-title":"Cystic kidney diseases: learning from animal models","volume":"19","author":"Fischer","year":"2004","journal-title":"Nephrol Dial Transplant"},{"key":"10.1016\/j.arcped.2009.02.023_bib31","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1172\/JCI200420083","article-title":"Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice","volume":"113","author":"Hiesberger","year":"2004","journal-title":"J Clin Invest"},{"key":"10.1016\/j.arcped.2009.02.023_bib32","doi-asserted-by":"crossref","first-page":"10578","DOI":"10.1074\/jbc.M414121200","article-title":"Role of the hepatocyte nuclear factor-1beta (HNF-1beta) C-terminal domain in Pkhd1 (ARPKD) gene transcription and renal cystogenesis","volume":"280","author":"Hiesberger","year":"2005","journal-title":"J Biol Chem"},{"key":"10.1016\/j.arcped.2009.02.023_bib33","doi-asserted-by":"crossref","first-page":"1128","DOI":"10.1007\/s00125-004-1402-y","article-title":"Identification of a new case of hepatocyte nuclear factor-1beta mutation with highly varied phenotypes","volume":"47","author":"Shihara","year":"2004","journal-title":"Diabetologia"},{"key":"10.1016\/j.arcped.2009.02.023_bib34","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1007\/s001250051631","article-title":"Splice-site mutation in the hepatocyte nuclear factor-1 beta gene, IVS2nt+1G>A, associated with maturity-onset diabetes of the young, renal dysplasia and bicornuate uterus","volume":"44","author":"Iwasaki","year":"2001","journal-title":"Diabetologia"},{"key":"10.1016\/j.arcped.2009.02.023_bib35","doi-asserted-by":"crossref","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":"10.1016\/j.arcped.2009.02.023_bib36","doi-asserted-by":"crossref","first-page":"1102","DOI":"10.2337\/diacare.27.5.1102","article-title":"Contrasting diabetes phenotypes associated with hepatocyte nuclear factor-1alpha and -1beta mutations","volume":"27","author":"Pearson","year":"2004","journal-title":"Diabetes Care"},{"key":"10.1016\/j.arcped.2009.02.023_bib37","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1038\/ncpneph0054","article-title":"Cystic kidney disease, chromophobe renal cell carcinoma and TCF2 (HNF1 beta) mutations","volume":"1","author":"Lebrun","year":"2005","journal-title":"Nat Clin Pract Nephrol"},{"key":"10.1016\/j.arcped.2009.02.023_bib38","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1093\/hmg\/ddi057","article-title":"Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas","volume":"14","author":"Rebouissou","year":"2005","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.arcped.2009.02.023_bib39","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1681\/ASN.2005101040","article-title":"Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort","volume":"17","author":"Ulinski","year":"2006","journal-title":"J Am Soc Nephrol"},{"key":"10.1016\/j.arcped.2009.02.023_bib40","doi-asserted-by":"crossref","first-page":"2864","DOI":"10.1681\/ASN.2006030277","article-title":"Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study","volume":"17","author":"Weber","year":"2006","journal-title":"J Am Soc Nephrol"},{"key":"10.1016\/j.arcped.2009.02.023_bib41","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1681\/ASN.2006091057","article-title":"Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys","volume":"18","author":"Decramer","year":"2007","journal-title":"J Am Soc Nephrol"},{"key":"10.1016\/j.arcped.2009.02.023_bib42","doi-asserted-by":"crossref","first-page":"2647","DOI":"10.1681\/ASN.2006080841","article-title":"Renal hypoplasia and dysplasia: starting to put the puzzle together","volume":"17","author":"Woolf","year":"2006","journal-title":"J Am Soc Nephrol"}],"container-title":["Archives de P\u00e9diatrie"],"original-title":[],"language":"fr","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0929693X09001201?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0929693X09001201?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,10,4]],"date-time":"2021-10-04T03:03:27Z","timestamp":1633316607000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0929693X09001201"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,7]]},"references-count":42,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2009,7]]}},"alternative-id":["S0929693X09001201"],"URL":"https:\/\/doi.org\/10.1016\/j.arcped.2009.02.023","relation":{},"ISSN":["0929-693X"],"issn-type":[{"value":"0929-693X","type":"print"}],"subject":[],"published":{"date-parts":[[2009,7]]}}}