文献

J-GLOBAL ID：201602252596519411   整理番号：16A1213022

HESX1における新規突然変異は中隔視神経形成異常症表現型を伴わない複合下垂体ホルモン欠損症を引き起こす

A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes

著者 (8件)： Takagi Masaki (Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan) ,  Takagi Masaki (Department of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan) ,  Takahashi Mai (Department of Pediatrics, Gunma University Graduate School of Medicine, Maebashi, Japan) ,  Ohtsu Yoshiaki (Department of Pediatrics, Gunma University Graduate School of Medicine, Maebashi, Japan) ,  Sato Takeshi (Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan) ,  Narumi Satoshi (Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan) ,  Arakawa Hirokazu (Department of Pediatrics, Gunma University Graduate School of Medicine, Maebashi, Japan) ,  Hasegawa Tomonobu (Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan)
資料名： Endocrine Journal  (Endocrine Journal)
巻： 63  号： 4  ページ： 405-410(J-STAGE)  発行年： 2016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： ヘテロ接合型および/またはホモ接合型HESX1突然変異は,中...

シソーラス用語： ヒト ,...
準シソーラス用語： *Hesx1 ,...

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著者キーワード (4件)： HESX1 ,  Combined pituitary hormone deficiency ,  Homeobox ,  Targeted next-generation sequencing

分類 (1件)： 内分泌系の疾患  (GL03000I)

引用文献 (21件)：

• 1. Romero CJ, Nesi-França S, Radovick S (2009) The molecular basis of hypopituitarism. Trends Endocrinol Metab 20: 506-516.
• 2. Kelberman D, Rizzoti K, Lovell-Badge R, Robinson IC, Dattani MT (2009) Genetic regulation of pituitary gland development in human and mouse. Endocr Rev 30: 790-829.
• 3. Pfäffle R, Klammt J (2011) Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency. Best Pract Res Clin Endocrinol Metab 25: 43-60.
• 4. Raivio T, Avbelj M, McCabe MJ, Romero CJ, Dwyer AA, et al. (2012) Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia. J Clin Endocrinol Metab 97: E694-E699.
• 5. Reynaud R, Jayakody SA, Monnier C, Saveanu A, Bouligand J, et al. (2012) PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption. J Clin Endocrinol Metab 97: E1068-E1073.

タイトルに関連する用語 (6件)： Hesx1 ,  突然変異 ,  中隔視神経形成異常症 ,  表現型 ,  下垂体ホルモン ,  欠損