Art

J-GLOBAL ID：201802251848518843   Reference number：18A1422992

A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5)

若年発症成人型糖尿病5型(MODY5)の症例におけるHNF1B遺伝子の新規p.L145Q突然変異

Author (9)： Kato Tomoko (Department of Diabetes, Endocrinology and Nutrition, Graduate School of Medicine, Kyoto University, Japan) ,  Kato Tomoko (Department of Diabetes and Endocrinology, Osaka Red Cross Hospital, Japan) ,  Tanaka Daisuke (Department of Diabetes, Endocrinology and Nutrition, Graduate School of Medicine, Kyoto University, Japan) ,  Muro Seiji (Department of Diabetes and Endocrinology, Osaka Red Cross Hospital, Japan) ,  Jambaljav Byambatseren (Department of Diabetes, Endocrinology and Nutrition, Graduate School of Medicine, Kyoto University, Japan) ,  Mori Eisaku (Department of Diabetes and Endocrinology, Osaka Red Cross Hospital, Japan) ,  Yonemitsu Shin (Department of Diabetes and Endocrinology, Osaka Red Cross Hospital, Japan) ,  Oki Shogo (Department of Diabetes and Endocrinology, Osaka Red Cross Hospital, Japan) ,  Inagaki Nobuya (Department of Diabetes, Endocrinology and Nutrition, Graduate School of Medicine, Kyoto University, Japan)
Material： Internal Medicine (Web)  (Intern Med (Web))
Volume： 57  Issue： 14  Page： 2035-2039(J-STAGE)  Publication year： 2018 
JST Material Number： U0033A  ISSN： 1349-7235  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： human(primates) ,...
Semi thesaurus term： Mature onset diabetes mellitus of young ,...

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Author keywords (4)： MODY5 ,  HNF1B ,  renal cysts ,  pancreatic atrophy

JST classification (2)： Metabolic diseases,nutritional diseases in general.  (GD05010J) ,  Congenital diseases,deformities in general.  (GD03010V)

Reference (17)：

• 1. Horikawa Y, Enya M, Fushimi N, Fushimi Y, Takeda J. Screening of diabetes of youth for hepatocyte nuclear factor 1 mutations: clinical phenotype of HNF1β-related maturity-onset diabetes of the young and HNF1α-related maturity-onset diabetes of the young in Japanese. Diabet Med 31: 721-727, 2014.
• 2. Yorifuji T, Fujimaru R, Hosokawa Y, et al. Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus. Pediatr Diabetes 13: 26-32, 2012.
• 3. Heuvel-Borsboom H, De Valk HW, Losekoot M, Westerink J. Maturity onset diabetes of the young: Seek and you will find. Neth J Med 74: 193-200, 2016.
• 4. Tanaka D, Nagashima K, Sasaki M, et al. Exome sequencing identifies a new candidate mutation for susceptibility to diabetes in a family with highly aggregated type 2 diabetes. Mol Genet Metab 109: 112-117, 2013.
• 5. Higasa K, Miyake N, Yoshimura J, et al. Human genetic variation database, a reference database of genetic variations in the Japanese population. J Hum Genet 61: 547-553, 2016.

Terms in the title (5)： 若年発症成人型糖尿病 ,  MODY5 ,  症例 ,  遺伝子 ,  突然変異