{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T04:09:39Z","timestamp":1790914179326,"version":"4.1.0"},"reference-count":0,"publisher":"American Diabetes Association","issue":"9","content-domain":{"domain":["diabetesjournals.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[1996,9,1]]},"abstract":"<jats:p>Many studies suggest that amylin, which is cosecreted with insulin from islet \u03b2-cells, is a biologically active peptide and modulates plasma glucose levels. We therefore scanned the amylin gene for mutations in 294 Japanese NIDDM patients by single-strand conformational polymorphism, and we found a single heterozygous missense mutation (Ser\u2192Gly at position 20: S20G mutation) in 12 NIDDM patients (frequency 4.1%). None of the 187 nondiabetic subjects or 59 IDDM patients had the mutation. Of 12 patients carrying the mutation, 8 were diagnosed as having NIDDM at a relatively early age (\u226435 years), and they had severe diabetes and strong family histories of late-onset NIDDM. On the other hand, the remaining four patients were diagnosed as having NIDDM after age 51, and they had mild diabetes without family histories of diabetes. In high-performance liquid chromatography analysis, a small amount (16%) of amylin immunoreactivity appeared in the position corresponding to normal amylin and a much larger amount (84%) appeared in the position corresponding to mutant amylin. These findings suggest that the S20G mutation of the amylin gene may play a partial role in the pathogenesis of early-onset NIDDM in the Japanese population and may also provide an important model to investigate the true physiological action of amylin.<\/jats:p>","DOI":"10.2337\/diab.45.9.1279","type":"journal-article","created":{"date-parts":[[2013,9,19]],"date-time":"2013-09-19T13:42:54Z","timestamp":1379598174000},"page":"1279-1281","update-policy":"https:\/\/doi.org\/10.2337\/ada-journal-policies","source":"Crossref","is-referenced-by-count":120,"title":["Missense Mutation of Amylin Gene (S20G) in Japanese NIDDM Patients"],"prefix":"10.2337","volume":"45","author":[{"given":"Setsuya","family":"Sakagashira","sequence":"first","affiliation":[{"name":"Department of Medicine\u2008Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tokio","family":"Sanke","sequence":"additional","affiliation":[{"name":"Department of Medicine\u2008Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadashi","family":"Hanabusa","sequence":"additional","affiliation":[{"name":"Department of Medicine\u2008Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroko","family":"Shimomura","sequence":"additional","affiliation":[{"name":"Department of Medicine\u2008Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinya","family":"Ohagi","sequence":"additional","affiliation":[{"name":"Department of Medicine\u2008Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kumiko Y","family":"Kumagaye","sequence":"additional","affiliation":[{"name":"Wakayama University of Medical Science, Wakayama, and the Peptide Institute\u2008Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiichiro","family":"Nakajima","sequence":"additional","affiliation":[{"name":"Department of Medicine\u2008Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kishio","family":"Nanjo","sequence":"additional","affiliation":[{"name":"Department of Medicine\u2008Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1167","container-title":["Diabetes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.org\/diabetes\/diabetes\/article-pdf\/45\/9\/1279\/555326\/45-9-1279.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/diabetesjournals.org\/diabetes\/article-pdf\/45\/9\/1279\/555326\/45-9-1279.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,11,2]],"date-time":"2022-11-02T12:31:23Z","timestamp":1667392283000},"score":1,"resource":{"primary":{"URL":"https:\/\/diabetesjournals.org\/diabetes\/article\/45\/9\/1279\/9564\/Missense-Mutation-of-Amylin-Gene-S20G-in-Japanese"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,9,1]]},"references-count":0,"journal-issue":{"issue":"9","published-print":{"date-parts":[[1996,9,1]]}},"URL":"https:\/\/doi.org\/10.2337\/diab.45.9.1279","relation":{},"ISSN":["0012-1797","1939-327X"],"issn-type":[{"value":"0012-1797","type":"print"},{"value":"1939-327X","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996,9,1]]}}}