文献

J-GLOBAL ID：201702239212788780   整理番号：17A1375910

先天性甲状腺機能低下症の女児と明らかに無影響の女児の兄弟におけるホモ接合性DUOXA2突然変異(p.Tyr138*):症例報告と文献調査

Homozygous DUOXA2 mutation (p.Tyr138^*) in a girl with congenital hypothyroidism and her apparently unaffected brother: Case report and review of the literature

著者 (11件)： Sugisawa Chiho (Department of Pediatrics, Keio University School of Medicine, Tokyo 160-8582, Japan) ,  Sugisawa Chiho (Department of Internal Medicine, Showa University Fujigaoka Hospital, Yokohama 227-8501, Japan) ,  Higuchi Shinji (Division of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center, Tokyo 183-8561, Japan) ,  Takagi Masaki (Division of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center, Tokyo 183-8561, Japan) ,  Hasegawa Yukihiro (Division of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center, Tokyo 183-8561, Japan) ,  Taniyama Matsuo (Department of Internal Medicine, Showa University Fujigaoka Hospital, Yokohama 227-8501, Japan) ,  Taniyama Matsuo (Tokyo Health Service Association, Tokyo 162-8402, Japan) ,  Abe Kiyomi (Department of Pediatrics, Keio University School of Medicine, Tokyo 160-8582, Japan) ,  Hasegawa Tomonobu (Department of Pediatrics, Keio University School of Medicine, Tokyo 160-8582, Japan) ,  Narumi Satoshi (Department of Pediatrics, Keio University School of Medicine, Tokyo 160-8582, Japan) ,  Narumi Satoshi (Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan)
資料名： Endocrine Journal  (Endocrine Journal)
巻： 64  号： 8  ページ： 807-812(J-STAGE)  発行年： 2017年 
JST資料番号： F0625A  ISSN： 0918-8959  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： 日本 (JPN)  言語： 英語 (EN)

抄録/ポイント： 二重オキシダーゼ成熟因子2をコードするDUOXA2における突...

シソーラス用語： ヒト ,...
準シソーラス用語： DUOXA2遺伝子 ,...

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著者キーワード (5件)： Congenital hypothyroidism ,  DUOXA2 ,  Mutation ,  Genetics ,  Newborn screening

分類 (1件)： 内分泌系の疾患  (GL03000I)

物質索引 (1件)： レボチロキシン

引用文献 (20件)：

• 1. Grasberger H, Refetoff S (2006) Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent. J Biol Chem 281: 18269-18272.
• 2. De Deken X, Wang D, Many MC, Costagliola S, Libert F, et al. (2000) Cloning of two human thyroid cDNAs encoding new members of the NADPH oxidase family. J Biol Chem 275: 23227-23233.
• 3. Pachucki J, Wang D, Christophe D, Miot F (2004) Structural and functional characterization of the two human ThOX/Duox genes and their 5′-flanking regions. Mol Cell Endocrinol 214: 53-62.
• 4. Moreno JC, Bikker H, Kempers MJ, van Trotsenburg AS, Baas F, et al. (2002) Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. N Engl J Med 347: 95-102.
• 5. Zamproni I, Grasberger H, Cortinovis F, Vigone MC, Chiumello G, et al. (2008) Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. J Clin Endocrinol Metab 93: 605-610.

タイトルに関連する用語 (6件)： 先天性甲状腺機能低下症 ,  兄弟 ,  ホモ接合性 ,  突然変異 ,  症例報告 ,  文献調査