{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T05:15:31Z","timestamp":1768972531346,"version":"3.49.0"},"reference-count":0,"publisher":"American Diabetes Association","issue":"9","content-domain":{"domain":["diabetesjournals.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2000,9,1]]},"abstract":"<jats:p>Islet-1 (Isl-1) is one of the transcription factors that play an important role for the formation of the islet cells. We scanned the Isl-1 gene in 77 Japanese type 2 diabetic patients with a family history and found a heterozygous nonsense mutation (Q310X) in 1 diabetic patient. The mutation was not found in 180 nondiabetic subjects. This mutation is located in the putative transactivation domain and deletes 40 amino acids of the COOH-terminal lesion. The Q310X mutant exhibited a 50% reduction in activity compared with the wild-type when tested for stimulation of transcription of a human amylin promoter-linked luciferase reporter gene in betaTC3 cells. The patient was a 49-year-old nonobese man who was diagnosed as having type 2 diabetes at 32 years of age and has been treated with sulfonylureas. The mutation was found in his mother, who has type 2 diabetes, and in his 14-year-old daughter, who has normal glucose tolerance but a relatively low insulin response. This is the first reported finding of Isl-1 gene mutation in type 2 diabetes. Although Isl-1 is not a common predisposing gene for Japanese type 2 diabetes, the mutation in this gene may be a rare cause of diabetes in isolated families.<\/jats:p>","DOI":"10.2337\/diabetes.49.9.1597","type":"journal-article","created":{"date-parts":[[2007,3,6]],"date-time":"2007-03-06T19:04:22Z","timestamp":1173207862000},"page":"1597-1600","update-policy":"https:\/\/doi.org\/10.2337\/ada-journal-policies","source":"Crossref","is-referenced-by-count":61,"title":["Nonsense mutation of islet-1 gene (Q310X) found in a type 2 diabetic patient with a strong family history."],"prefix":"10.2337","volume":"49","author":[{"given":"H","family":"Shimomura","sequence":"first","affiliation":[{"name":"First Department of Medicine, Wakayama University of Medical Science, Japan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Sanke","sequence":"additional","affiliation":[{"name":"First Department of Medicine, Wakayama University of Medical Science, Japan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Hanabusa","sequence":"additional","affiliation":[{"name":"First Department of Medicine, Wakayama University of Medical Science, Japan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Tsunoda","sequence":"additional","affiliation":[{"name":"First Department of Medicine, Wakayama University of Medical Science, Japan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Furuta","sequence":"additional","affiliation":[{"name":"First Department of Medicine, Wakayama University of Medical Science, Japan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Nanjo","sequence":"additional","affiliation":[{"name":"First Department of Medicine, Wakayama University of Medical Science, Japan."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1167","container-title":["Diabetes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.org\/diabetes\/diabetes\/article-pdf\/49\/9\/1597\/365368\/10969846.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/diabetesjournals.org\/diabetes\/article-pdf\/49\/9\/1597\/365368\/10969846.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,11,2]],"date-time":"2022-11-02T16:08:07Z","timestamp":1667405287000},"score":1,"resource":{"primary":{"URL":"https:\/\/diabetesjournals.org\/diabetes\/article\/49\/9\/1597\/10758\/Nonsense-mutation-of-islet-1-gene-Q310X-found-in-a"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,9,1]]},"references-count":0,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2000,9,1]]}},"URL":"https:\/\/doi.org\/10.2337\/diabetes.49.9.1597","relation":{},"ISSN":["0012-1797","1939-327X"],"issn-type":[{"value":"0012-1797","type":"print"},{"value":"1939-327X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2000,9,1]]}}}