{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T03:20:26Z","timestamp":1793330426062,"version":"4.5.0"},"reference-count":22,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2008,7,4]],"date-time":"2008-07-04T00:00:00Z","timestamp":1215129600000},"content-version":"vor","delay-in-days":3,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Diabetic Medicine"],"published-print":{"date-parts":[[2008,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:bold>Aims\u2003<\/jats:bold> Hepatocyte nuclear factor 1B (<jats:italic>HNF1B<\/jats:italic>) gene mutation carriers have a systemic disease characterized by congenital malformations in the urogenital tract, diabetes mellitus of maturity\u2010onset diabetes of the young type and dysfunction of the liver and exocrine pancreas. We aimed to investigate pancreatic structure and exocrine function in carriers of <jats:italic>HNF1B<\/jats:italic> mutations.<\/jats:p><jats:p><jats:bold>Methods\u2003<\/jats:bold> We studied five subjects from two families with the previously reported mutation R137_K161del and the novel mutation F148L in <jats:italic>HNF1B<\/jats:italic>. All patients underwent computed tomography (CT) and magnetic resonance cholangiopancreatography (MRCP). We measured faecal elastase and serum vitamins D and E.<\/jats:p><jats:p><jats:bold>Results\u2003<\/jats:bold> One of the mutation carriers reported abdominal symptoms. All five subjects had faecal elastase deficiency, three had vitamin D deficiency and two had vitamin E deficiency. Neither CT nor MRCP depicted tissue corresponding to the pancreatic body and tail in the five mutation carriers, indicating agenesis of the dorsal pancreas. The head of the pancreas was slightly atrophic but had normal X\u2010ray attenuation at CT in all patients.<\/jats:p><jats:p><jats:bold>Conclusions\u2003<\/jats:bold> Agenesis of the pancreatic body and tail and pancreatic exocrine dysfunction are parts of the phenotype in <jats:italic>HNF1B<\/jats:italic> mutation carriers. This strengthens the evidence for a critical role of <jats:italic>HNF1B<\/jats:italic> in development and differentiation of at least the dorsal pancreas.<\/jats:p>","DOI":"10.1111\/j.1464-5491.2008.02460.x","type":"journal-article","created":{"date-parts":[[2008,7,5]],"date-time":"2008-07-05T17:00:22Z","timestamp":1215277222000},"page":"782-787","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":111,"title":["Lack of pancreatic body and tail in <i>HNF1B<\/i> mutation carriers"],"prefix":"10.1111","volume":"25","author":[{"given":"I. S.","family":"Haldorsen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Vesterhus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"R\u00e6der","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. K.","family":"Jensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O.","family":"S\u00f8vik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Molven","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. R.","family":"Nj\u00f8lstad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,7,4]]},"reference":[{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1297-384"},{"key":"e_1_2_8_3_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.11.2001"},{"key":"e_1_2_8_4_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2002.00272.x"},{"key":"e_1_2_8_5_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl161"},{"key":"e_1_2_8_6_2","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-140-7-200404060-00009"},{"key":"e_1_2_8_7_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0405776102"},{"key":"e_1_2_8_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg355"},{"key":"e_1_2_8_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1708"},{"key":"e_1_2_8_10_2","doi-asserted-by":"publisher","DOI":"10.2337\/db06-0859"},{"key":"e_1_2_8_11_2","doi-asserted-by":"publisher","DOI":"10.2337\/dc07-1002"},{"key":"e_1_2_8_12_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2003.00156.x"},{"key":"e_1_2_8_13_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1022051609386"},{"key":"e_1_2_8_14_2","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfm603"},{"key":"e_1_2_8_15_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1464-5491.2006.01999.x"},{"key":"e_1_2_8_16_2","first-page":"651","article-title":"Agenesis of the dorsal pancreas with chronic calcific pancreatitis. Case report, review of the literature and genetic basis","volume":"7","author":"Balakrishnan V","year":"2006","journal-title":"JOP"},{"key":"e_1_2_8_17_2","doi-asserted-by":"publisher","DOI":"10.1007\/s005340050090"},{"key":"e_1_2_8_18_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00198051"},{"key":"e_1_2_8_19_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02087781"},{"key":"e_1_2_8_20_2","first-page":"450","article-title":"Dorsal pancreatic agenesis","volume":"8","author":"Uygur\u2010Bayramicli O","year":"2007","journal-title":"JOP"},{"key":"e_1_2_8_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0016-5107(95)70055-2"},{"key":"e_1_2_8_22_2","doi-asserted-by":"crossref","first-page":"166","DOI":"10.2337\/diabetes.40.2.166","article-title":"Banting lecture 1990. Beta\u2010cells in type\u00a0II diabetes mellitus","volume":"40","author":"Porte D","year":"1991","journal-title":"Diabetes"},{"key":"e_1_2_8_23_2","doi-asserted-by":"publisher","DOI":"10.1002\/dmr.5610030404"}],"container-title":["Diabetic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1464-5491.2008.02460.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1464-5491.2008.02460.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T10:02:00Z","timestamp":1696932120000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1464-5491.2008.02460.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,7]]},"references-count":22,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2008,7]]}},"alternative-id":["10.1111\/j.1464-5491.2008.02460.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1464-5491.2008.02460.x","archive":["Portico"],"relation":{},"ISSN":["0742-3071","1464-5491"],"issn-type":[{"value":"0742-3071","type":"print"},{"value":"1464-5491","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,7]]},"assertion":[{"value":"2008-07-04","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}