{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T05:49:31Z","timestamp":1790660971959,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2014,11,4]],"date-time":"2014-11-04T00:00:00Z","timestamp":1415059200000},"content-version":"vor","delay-in-days":3,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"National Health and Medical Research Council of Australia (NHMRC)"},{"name":"Victorian State Government Operational Infrastructure Support Grant"},{"DOI":"10.13039\/100008713","name":"Diabetes Australia Research Trust","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100008713","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Royal Australian College of Physicians Research Foundation"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Internal Medicine Journal"],"published-print":{"date-parts":[[2014,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Exome sequencing is being increasingly used to identify disease\u2010associated gene mutations. We used whole exome sequencing to determine the genetic basis of a syndrome of diabetes and renal disease affecting a mother and her son. We identified a mutation in the hepatocyte nuclear factor 1\u2010b (<jats:styled-content style=\"fixed-case\"><jats:italic>HNF1B<\/jats:italic><\/jats:styled-content>) gene that encoded a methionine to valine amino acid change (<jats:styled-content style=\"fixed-case\">M<\/jats:styled-content>160<jats:styled-content style=\"fixed-case\">V<\/jats:styled-content>) in the <jats:styled-content style=\"fixed-case\">HNF1B<\/jats:styled-content> protein. This leads us to the previously unappreciated diagnosis of maturity\u2010onset diabetes of the young type 5 and provided a basis for genetic counselling of other family members.<\/jats:p>","DOI":"10.1111\/imj.12584","type":"journal-article","created":{"date-parts":[[2014,11,4]],"date-time":"2014-11-04T09:44:02Z","timestamp":1415094242000},"page":"1137-1140","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Maturity\u2010onset diabetes of the young type 5 in a family with diabetes and mild kidney disease diagnosed by whole exome sequencing"],"prefix":"10.1111","volume":"44","author":[{"given":"J. M.","family":"Wentworth","sequence":"first","affiliation":[{"name":"Molecular Medicine Division The Walter and Eliza Hall Institute of Medical Research  Melbourne Victoria"},{"name":"Department of Diabetes and Endocrinology Royal Melbourne Hospital  Melbourne Victoria"},{"name":"Department of Medical Biology The University of Melbourne  Melbourne Victoria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Lukic","sequence":"additional","affiliation":[{"name":"Molecular Medicine Division The Walter and Eliza Hall Institute of Medical Research  Melbourne Victoria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Bahlo","sequence":"additional","affiliation":[{"name":"Molecular Medicine Division The Walter and Eliza Hall Institute of Medical Research  Melbourne Victoria"},{"name":"Department of Medical Biology The University of Melbourne  Melbourne Victoria"},{"name":"Department of Mathematics and Statistics The University of Melbourne  Melbourne Victoria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Finlay","sequence":"additional","affiliation":[{"name":"Department of Anatomical Pathology Royal Melbourne Hospital  Melbourne Victoria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Centre for Diabetes Research The Western Australian Institute for Medical Research"},{"name":"Centre for Medical Research University of Western Australia  Perth Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Morahan","sequence":"additional","affiliation":[{"name":"Centre for Diabetes Research The Western Australian Institute for Medical Research"},{"name":"Centre for Medical Research University of Western Australia  Perth Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. C.","family":"Harrison","sequence":"additional","affiliation":[{"name":"Molecular Medicine Division The Walter and Eliza Hall Institute of Medical Research  Melbourne Victoria"},{"name":"Department of Medical Biology The University of Melbourne  Melbourne Victoria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,11,4]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2011-12-9-r85"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.7.080505.115630"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi7010527"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2010101080"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.2337\/db12-1398"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1080\/ann.34.3.207.217"},{"key":"e_1_2_3_8_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-140-7-200404060-00009"},{"key":"e_1_2_3_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2011.225"},{"key":"e_1_2_3_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1464-5491.2006.01999.x"},{"key":"e_1_2_3_11_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra002168"},{"key":"e_1_2_3_12_1","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.06810909"},{"key":"e_1_2_3_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature13127"},{"key":"e_1_2_3_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/507294a"},{"key":"e_1_2_3_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2011-12-9-408"},{"key":"e_1_2_3_16_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMp1310471"}],"container-title":["Internal Medicine Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fimj.12584","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/imj.12584","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T16:55:46Z","timestamp":1695574546000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/imj.12584"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,11]]},"references-count":15,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2014,11]]}},"alternative-id":["10.1111\/imj.12584"],"URL":"https:\/\/doi.org\/10.1111\/imj.12584","archive":["Portico"],"relation":{},"ISSN":["1444-0903","1445-5994"],"issn-type":[{"value":"1444-0903","type":"print"},{"value":"1445-5994","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,11]]},"assertion":[{"value":"2014-04-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2014-06-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2014-11-04","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}