Art

J-GLOBAL ID：201802260800442441   Reference number：18A0418533

A follow-up during puberty in a Japanese girl with type A insulin resistance due to a novel mutation in INSR

新規のINSR変異に起因するA型インスリン抵抗性を有する日本人女児における思春期のフォローアップ

Author (7)： Saito-Hakoda Akiko (Department of Pediatrics, JR Sendai Hospital, Sendai, Japan) ,  Nishii Aki (Department of Pediatrics, JR Sendai Hospital, Sendai, Japan) ,  Uchida Takashi (Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan) ,  Kikuchi Atsuo (Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan) ,  Kanno Junko (Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan) ,  Fujiwara Ikuma (Department of Pediatric Endocrinology and Environmental Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan) ,  Kure Shigeo (Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan)
Material： Clinical Pediatric Endocrinology  (Clin Pediatr Endocrinol)
Volume： 27  Issue： 1  Page： 53-57(J-STAGE)  Publication year： 2018 
JST Material Number： L4217A  ISSN： 0918-5739  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： human(primates) ,...
Semi thesaurus term： *Type A insulin resistance syndrome ,...

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Author keywords (4)： mutation ,  INSR ,  type A insulin resistance ,  acanthosis nigricans

JST classification (3)： Metabolic diseases,nutritional diseases in general.  (GD05010J) ,  Treatment for pediatric diseases.  (GC08040I) ,  Genetic variation  (EC01030Y)

Substance index (1)： Metformin

Reference (6)：

• 1. Ebina, Y, Ellis, L, Jarnagin, K, Edery, M, Graf, L, Clauser, E, et al. The human insulin receptor cDNA: the structural basis for hormone-activated transmembrane signalling. Cell 1985;40: 747-58.
• 2. Ardon, O, Procter, M, Tvrdik, T, Longo, N, Mao, R. Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene. Mol Genet Metab Rep 2014;1: 71-84.
• 3. Phiske, MM. An approach to acanthosis nigricans. Indian Dermatol Online J 2014;5: 239-49.
• 4. Ng, HY. Acanthosis nigricans in obese adolescents: prevalence, impact, and management challenges. Adolesc Health Med Ther 2016;8: 1-10.
• 5. Verkauskiene, R, Petraitiene, I, Albertsson Wikland, K. Puberty in children born small for gestational age. Horm Res Paediatr 2013;80: 69-77.

Terms in the title (5)： 変異 ,  起因 ,  インスリン抵抗性 ,  日本人 ,  フォローアップ