{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T01:49:23Z","timestamp":1790819363582,"version":"4.1.0"},"reference-count":39,"publisher":"The Endocrine Society","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,6,1]]},"DOI":"10.1210\/jc.2017-00061","type":"journal-article","created":{"date-parts":[[2017,4,19]],"date-time":"2017-04-19T15:10:27Z","timestamp":1492614627000},"page":"2075-2082","source":"Crossref","is-referenced-by-count":25,"title":["Biliary Anomalies in Patients With HNF1B Diabetes"],"prefix":"10.1210","volume":"102","author":[{"given":"Jarno L. T.","family":"Kettunen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helka","family":"Parviainen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P\u00e4ivi J.","family":"Miettinen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martti","family":"F\u00e4rkkil\u00e4","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjo","family":"Tamminen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pia","family":"Salonen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eila","family":"Lantto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiinamaija","family":"Tuomi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2017,3,17]]},"reference":[{"issue":"21","key":"key\n\t\t\t\t20170606140043_B1","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","year":"1999","journal-title":"Development"},{"issue":"5","key":"key\n\t\t\t\t20170606140043_B2","doi-asserted-by":"crossref","first-page":"1490","DOI":"10.1073\/pnas.0405776102","article-title":"Lack of TCF2\/vHNF1 in mice leads to pancreas agenesis","volume":"102","year":"2005","journal-title":"Proc Natl Acad Sci USA"},{"issue":"16","key":"key\n\t\t\t\t20170606140043_B3","doi-asserted-by":"crossref","first-page":"2777","DOI":"10.1242\/dev.023010","article-title":"Crucial role of vHNF1 in vertebrate hepatic specification","volume":"135","year":"2008","journal-title":"Development"},{"issue":"11","key":"key\n\t\t\t\t20170606140043_B4","first-page":"1479","article-title":"Hepatocyte nuclear factor-1beta(HNF-1beta) in human urogenital organs: its expression and role in embryogenesis and tumorigenesis","volume":"24","year":"2009","journal-title":"Histol Histopathol"},{"issue":"5","key":"key\n\t\t\t\t20170606140043_B5","doi-asserted-by":"crossref","first-page":"1159","DOI":"10.1016\/j.jhep.2011.09.022","article-title":"Development of the bile ducts: essentials for the clinical hepatologist","volume":"56","year":"2012","journal-title":"J Hepatol"},{"issue":"1","key":"key\n\t\t\t\t20170606140043_B6","doi-asserted-by":"crossref","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","year":"2001","journal-title":"Am J Hum Genet"},{"issue":"22","key":"key\n\t\t\t\t20170606140043_B7","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","year":"2010","journal-title":"Chin Med J (Engl)"},{"issue":"4","key":"key\n\t\t\t\t20170606140043_B8","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1038\/ng1297-384","article-title":"Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY","volume":"17","year":"1997","journal-title":"Nat Genet"},{"issue":"2","key":"key\n\t\t\t\t20170606140043_B9","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1038\/nrneph.2014.232","article-title":"HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum","volume":"11","year":"2015","journal-title":"Nat Rev Nephrol"},{"issue":"2","key":"key\n\t\t\t\t20170606140043_B10","doi-asserted-by":"crossref","first-page":"405","DOI":"10.2337\/diabetes.55.02.06.db05-1019","article-title":"Contrasting insulin sensitivity of endogenous glucose production rate in subjects with hepatocyte nuclear factor-1beta and -1alpha mutations","volume":"55","year":"2006","journal-title":"Diabetes"},{"issue":"7","key":"key\n\t\t\t\t20170606140043_B11","doi-asserted-by":"crossref","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","year":"2008","journal-title":"Diabet Med"},{"issue":"5","key":"key\n\t\t\t\t20170606140043_B12","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1681\/ASN.2008060633","article-title":"HNF1B mutations associate with hypomagnesemia and renal magnesium wasting","volume":"20","year":"2009","journal-title":"J Am Soc Nephrol"},{"issue":"5","key":"key\n\t\t\t\t20170606140043_B13","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","year":"2003","journal-title":"Kidney Int"},{"issue":"12","key":"key\n\t\t\t\t20170606140043_B14","doi-asserted-by":"crossref","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","year":"1998","journal-title":"Diabetes Care"},{"issue":"11","key":"key\n\t\t\t\t20170606140043_B15","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","year":"1999","journal-title":"Hum Mol Genet"},{"issue":"4","key":"key\n\t\t\t\t20170606140043_B16","doi-asserted-by":"crossref","first-page":"364.e1","DOI":"10.1016\/j.ajog.2010.05.022","article-title":"Mutations in the hepatocyte nuclear factor-1\u03b2 (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations","volume":"203","year":"2010","journal-title":"Am J Obstet Gynecol"},{"issue":"4","key":"key\n\t\t\t\t20170606140043_B17","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","year":"2002","journal-title":"Kidney Int"},{"issue":"2","key":"key\n\t\t\t\t20170606140043_B18","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","year":"2002","journal-title":"Am J Kidney Dis"},{"issue":"8","key":"key\n\t\t\t\t20170606140043_B19","doi-asserted-by":"crossref","first-page":"946","DOI":"10.1111\/dme.12190","article-title":"Exocrine pancreatic function in hepatocyte nuclear factor 1\u03b2-maturity-onset diabetes of the young (HNF1B-MODY) is only moderately reduced: compensatory hypersecretion from a hypoplastic pancreas","volume":"30","year":"2013","journal-title":"Diabet Med"},{"issue":"10","key":"key\n\t\t\t\t20170606140043_B20","doi-asserted-by":"crossref","first-page":"4089","DOI":"10.1210\/jc.2012-3453","article-title":"Early development of hyperparathyroidism due to loss of PTH transcriptional repression in patients with HNF1\u03b2 mutations?","volume":"98","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"key\n\t\t\t\t20170606140043_B21","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/j.kint.2016.03.027","article-title":"Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder","volume":"90","year":"2016","journal-title":"Kidney Int"},{"issue":"8","key":"key\n\t\t\t\t20170606140043_B22","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","year":"2002","journal-title":"Development"},{"issue":"3","key":"key\n\t\t\t\t20170606140043_B23","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/j.jpeds.2006.12.006","article-title":"Neonatal cholestatic jaundice as the first symptom of a mutation in the hepatocyte nuclear factor-1\u03b2 gene (HNF-1\u03b2)","volume":"150","year":"2007","journal-title":"J Pediatr"},{"issue":"7","key":"key\n\t\t\t\t20170606140043_B24","doi-asserted-by":"crossref","first-page":"2658","DOI":"10.1210\/jc.2008-2189","article-title":"Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young","volume":"94","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"issue":"8","key":"key\n\t\t\t\t20170606140043_B25","doi-asserted-by":"crossref","first-page":"2550","DOI":"10.3748\/wjg.v21.i8.2550","article-title":"Hepatic phenotypes of HNF1B gene mutations: a case of neonatal cholestasis requiring portoenterostomy and literature review","volume":"21","year":"2015","journal-title":"World J Gastroenterol"},{"issue":"6","key":"key\n\t\t\t\t20170606140043_B26","doi-asserted-by":"crossref","first-page":"1959","DOI":"10.1002\/hep.24292","article-title":"A classification of ductal plate malformations based on distinct pathogenic mechanisms of biliary dysmorphogenesis","volume":"53","year":"2011","journal-title":"Hepatology"},{"issue":"3","key":"key\n\t\t\t\t20170606140043_B27","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1002\/hep.25876","article-title":"HNF1B deficiency causes ciliary defects in human cholangiocytes","volume":"56","year":"2012","journal-title":"Hepatology"},{"issue":"9","key":"key\n\t\t\t\t20170606140043_B28","doi-asserted-by":"crossref","first-page":"1970","DOI":"10.1097\/TP.0000000000000993","article-title":"Calcineurin inhibitors downregulate HNF-1\u03b2 and may affect the outcome of HNF1B patients after renal transplantation","volume":"100","year":"2016","journal-title":"Transplantation"},{"issue":"5","key":"key\n\t\t\t\t20170606140043_B29","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1007\/s00534-002-0733-7","article-title":"Classification of congenital biliary cystic disease: special reference to type Ic and IVA cysts with primary ductal stricture","volume":"10","year":"2003","journal-title":"J Hepatobiliary Pancreat Surg"},{"issue":"2","key":"key\n\t\t\t\t20170606140043_B30","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1007\/s00268-014-2831-5","article-title":"What is the incidence of biliary carcinoma in choledochal cysts, when do they develop, and how should it affect management?","volume":"39","year":"2015","journal-title":"World J Surg"},{"issue":"6","key":"key\n\t\t\t\t20170606140043_B31","doi-asserted-by":"crossref","first-page":"1971","DOI":"10.1007\/s00261-014-0344-1","article-title":"Adult choledochal cysts: current update on classification, pathogenesis, and cross-sectional imaging findings","volume":"40","year":"2015","journal-title":"Abdom Imaging"},{"issue":"6","key":"key\n\t\t\t\t20170606140043_B32","doi-asserted-by":"crossref","first-page":"1567","DOI":"10.1007\/s00261-015-0381-4","article-title":"Imaging of choledochal cysts","volume":"40","year":"2015","journal-title":"Abdom Imaging"},{"issue":"10","key":"key\n\t\t\t\t20170606140043_B33","doi-asserted-by":"crossref","first-page":"1132","DOI":"10.4239\/wjd.v6.i10.1132","article-title":"Dysglycemia after renal transplantation: Definition, pathogenesis, outcomes and implications for management","volume":"6","year":"2015","journal-title":"World J Diabetes"},{"issue":"2","key":"key\n\t\t\t\t20170606140043_B34","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/S0168-8278(86)80073-3","article-title":"Hepatobiliary fibropolycystic diseases. A clinical and histological review of 51 patients","volume":"2","year":"1986","journal-title":"J Hepatol"},{"issue":"2","key":"key\n\t\t\t\t20170606140043_B35","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.biocel.2009.07.020","article-title":"Biliary differentiation and bile duct morphogenesis in development and disease","volume":"43","year":"2011","journal-title":"Int J Biochem Cell Biol"},{"issue":"2","key":"key\n\t\t\t\t20170606140043_B36","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/0002-9610(77)90359-2","article-title":"Congenital bile duct cysts: Classification, operative procedures, and review of thirty-seven cases including cancer arising from choledochal cyst","volume":"134","year":"1977","journal-title":"Am J Surg"},{"issue":"35","key":"key\n\t\t\t\t20170606140043_B37","doi-asserted-by":"crossref","first-page":"4801","DOI":"10.3748\/wjg.v18.i35.4801","article-title":"Biliary cysts: etiology, diagnosis and management","volume":"18","year":"2012","journal-title":"World J Gastroenterol"},{"issue":"32","key":"key\n\t\t\t\t20170606140043_B38","doi-asserted-by":"crossref","first-page":"5207","DOI":"10.3748\/wjg.v19.i32.5207","article-title":"Bile duct cyst in adults: interventional treatment, resection, or transplantation?","volume":"19","year":"2013","journal-title":"World J Gastroenterol"},{"issue":"3","key":"key\n\t\t\t\t20170606140043_B39","doi-asserted-by":"crossref","first-page":"1369","DOI":"10.1210\/jc.2003-031308","article-title":"Promoter-specific repression of hepatocyte nuclear factor (HNF)-1 beta and HNF-1 alpha transcriptional activity by an HNF-1 beta missense mutant associated with type 5 maturity-onset diabetes of the young with hepatic and biliary manifestations","volume":"89","year":"2004","journal-title":"J Clin Endocrinol Metab"}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/102\/6\/2075\/17665235\/jc.2017-00061.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,27]],"date-time":"2022-07-27T17:32:51Z","timestamp":1658943171000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article-lookup\/doi\/10.1210\/jc.2017-00061"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3,17]]},"references-count":39,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2017,3,17]]},"published-print":{"date-parts":[[2017,6,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jc.2017-00061","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,3,17]]}}}