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J-GLOBAL ID：201702256548052992   Reference number：17A1827922

A novel heterozygous mutation of the WFS1 gene leading to constitutive endoplasmic reticulum stress is the cause of Wolfram syndrome

構成的小胞体ストレスに至るWFS1遺伝子の新規ヘテロ接合性突然変異はWolfram症候群の原因である【Powered by NICT】

Author (7)： Morikawa Shuntaro (Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan) ,  Tajima Toshihiro (Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan) ,  Tajima Toshihiro (Department of Pediatrics, Jichi Children’s Medical Center, Shimotsuke, Japan) ,  Nakamura Akie (Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan) ,  Nakamura Akie (Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan) ,  Ishizu Katsura (Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan) ,  Ariga Tadashi (Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan)
Material： Pediatric Diabetes
Volume： 18  Issue： 8  Page： 934-941  Publication year： 2017 
JST Material Number： W2717A  ISSN： 1399-543X  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Abstract/Point： BACKGROUND: Wolfram syndrome (...

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Thesaurus term： Diabetes Insipidus ,  Optic Atrophy ,  *Mutation ,  *gene ,  patient ,  Proteins ,  protein synthesis ,  *Endoplasmic Reticulum ,  Transfection ,  *ER stress ,  Apoptosis ,  mRNA expression ,  *heterozygosity ,  *WFS1 gene
Semi thesaurus term： *Wolfram症候群 , 【Automatic Indexing@JST】

Author keywords (5)： calcium ,  endoplasmic reticulum ,  ER stress ,  WFS1 ,  Wolfram syndrome

JST classification (1)： Metabolic diseases,nutritional diseases in general.  (GD05010J)

Terms in the title (6)： 小胞体ストレス ,  WFS1遺伝子 ,  ヘテロ接合性 ,  突然変異 ,  Wolfram症候群 ,  原因