{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T07:11:21Z","timestamp":1789888281503,"version":"4.0.1"},"reference-count":64,"publisher":"Wiley","issue":"S1","license":[{"start":{"date-parts":[[2016,9,12]],"date-time":"2016-09-12T00:00:00Z","timestamp":1473638400000},"content-version":"vor","delay-in-days":11,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Wellcome Trust Clinical Research Fellowship"},{"name":"Cambridge Hospitals National Institute for Health Research Biomedical Research Center"},{"name":"ERC Starting Grant"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diabetes Obesity Metabolism"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:p>\n                    Heterozygous mutations in the gene that encodes the transcription factor hepatocyte nuclear factor 1\u03b2 (\n                    <jats:styled-content style=\"fixed-case\">HNF1B<\/jats:styled-content>\n                    ) result in a multi\u2010system disorder.\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">HNF1B<\/jats:styled-content>\n                    <\/jats:italic>\n                    was initially discovered as a monogenic diabetes gene; however, renal cysts are the most frequently detected feature. Other clinical features include pancreatic hypoplasia and exocrine insufficiency, genital tract malformations, abnormal liver function, cholestasis and early\u2010onset gout. Heterozygous mutations and complete gene deletions in\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">HNF1B<\/jats:styled-content>\n                    <\/jats:italic>\n                    each account for approximately 50% of all cases of\n                    <jats:styled-content style=\"fixed-case\">HNF1B<\/jats:styled-content>\n                    \u2010associated disease and may show autosomal dominant inheritance or arise spontaneously. There is no clear genotype\u2010phenotype correlation indicating that haploinsufficiency is the main disease mechanism. Data from animal models suggest that\n                    <jats:styled-content style=\"fixed-case\">HNF1B<\/jats:styled-content>\n                    is essential for several stages of pancreas and liver development. However, mice with heterozygous mutations in\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">HNF1B<\/jats:styled-content>\n                    <\/jats:italic>\n                    show no phenotype in contrast to the phenotype seen in humans. This suggests that mouse models do not fully replicate the features of human disease and complementary studies in human systems are necessary to determine the molecular mechanisms underlying\n                    <jats:styled-content style=\"fixed-case\">HNF1B<\/jats:styled-content>\n                    \u2010associated disease. This review discusses the role of\n                    <jats:styled-content style=\"fixed-case\">HNF1B<\/jats:styled-content>\n                    in human and murine pancreas and liver development, summarizes the disease phenotypes and identifies areas for future investigations in\n                    <jats:styled-content style=\"fixed-case\">HNF1B<\/jats:styled-content>\n                    \u2010associated diabetes and liver disease.\n                  <\/jats:p>","DOI":"10.1111\/dom.12715","type":"journal-article","created":{"date-parts":[[2016,9,12]],"date-time":"2016-09-12T06:26:08Z","timestamp":1473661568000},"page":"23-32","source":"Crossref","is-referenced-by-count":72,"title":["The role of hepatocyte nuclear factor 1\u03b2 in disease and development"],"prefix":"10.1111","volume":"18","author":[{"given":"R.","family":"El\u2010Khairi","sequence":"first","affiliation":[{"name":"Wellcome Trust\u2010Medical Research Council Stem Cell Institute, Anne McLaren Laboratory, Department 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