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http://purl.uniprot.org/citations/8772735http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/8772735http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/8772735http://www.w3.org/2000/01/rdf-schema#comment"Many studies suggest that amylin, which is cosecreted with insulin from islet beta-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-->Gly 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 (< or = 35 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."xsd:string
http://purl.uniprot.org/citations/8772735http://purl.org/dc/terms/identifier"doi:10.2337/diab.45.9.1279"xsd:string
http://purl.uniprot.org/citations/8772735http://purl.org/dc/terms/identifier"doi:10.2337/diab.45.9.1279"xsd:string
http://purl.uniprot.org/citations/8772735http://purl.uniprot.org/core/author"Nakajima K."xsd:string
http://purl.uniprot.org/citations/8772735http://purl.uniprot.org/core/author"Nakajima K."xsd:string
http://purl.uniprot.org/citations/8772735http://purl.uniprot.org/core/author"Shimomura H."xsd:string
http://purl.uniprot.org/citations/8772735http://purl.uniprot.org/core/author"Shimomura H."xsd:string
http://purl.uniprot.org/citations/8772735http://purl.uniprot.org/core/author"Hanabusa T."xsd:string
http://purl.uniprot.org/citations/8772735http://purl.uniprot.org/core/author"Hanabusa T."xsd:string
http://purl.uniprot.org/citations/8772735http://purl.uniprot.org/core/author"Nanjo K."xsd:string
http://purl.uniprot.org/citations/8772735http://purl.uniprot.org/core/author"Nanjo K."xsd:string
http://purl.uniprot.org/citations/8772735http://purl.uniprot.org/core/author"Ohagi S."xsd:string
http://purl.uniprot.org/citations/8772735http://purl.uniprot.org/core/author"Ohagi S."xsd:string
http://purl.uniprot.org/citations/8772735http://purl.uniprot.org/core/author"Sanke T."xsd:string
http://purl.uniprot.org/citations/8772735http://purl.uniprot.org/core/author"Sanke T."xsd:string
http://purl.uniprot.org/citations/8772735http://purl.uniprot.org/core/author"Sakagashira S."xsd:string
http://purl.uniprot.org/citations/8772735http://purl.uniprot.org/core/author"Sakagashira S."xsd:string
http://purl.uniprot.org/citations/8772735http://purl.uniprot.org/core/author"Kumagaye K.Y."xsd:string
http://purl.uniprot.org/citations/8772735http://purl.uniprot.org/core/author"Kumagaye K.Y."xsd:string
http://purl.uniprot.org/citations/8772735http://purl.uniprot.org/core/date"1996"xsd:gYear
http://purl.uniprot.org/citations/8772735http://purl.uniprot.org/core/date"1996"xsd:gYear
http://purl.uniprot.org/citations/8772735http://purl.uniprot.org/core/name"Diabetes"xsd:string
http://purl.uniprot.org/citations/8772735http://purl.uniprot.org/core/name"Diabetes"xsd:string