文献

J-GLOBAL ID：202002240111679624   整理番号：20A2808665

家族性甲状腺低形成を誘発する新規PAX8変異(p.His39Pro)の同定と機能的特徴づけ

Identification and functional characterization of a novel PAX8 mutation (p.His39Pro) causing familial thyroid hypoplasia

著者 (6件)： Iwahashi-Odano Megumi (Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan) ,  Fujisawa Yasuko (Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan) ,  Ogata Tsutomu (Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan) ,  Nakashima Shinichi (Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan) ,  Muramatsu Mayumi (Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan) ,  Narumi Satoshi (Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan)
資料名： Clinical Pediatric Endocrinology (Web)  (Clinical Pediatric Endocrinology (Web))
巻： 29  号： 4  ページ： 173-178(J-STAGE)  発行年： 2020年 
JST資料番号： U2150A  ISSN： 1347-7358  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： 甲状腺特異的転写因子に関する遺伝子PAX8の変異は常染色体優...

シソーラス用語： ヒト ,...
準シソーラス用語： *Pax8 ,...

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著者キーワード (4件)： PAX8 ,  突然変異 ,  遺伝学 ,  先天性甲状腺機能低下症

分類 (1件)： 内分泌系の臨床医学一般  (GL01030B)

引用文献 (31件)：

• 1. Plachov, D, Chowdhury, K, Walther, C, Simon, D, Guenet, JL, Gruss, P. Pax8, a murine paired box gene expressed in the developing excretory system and thyroid gland. Development 1990;110: 643-51.
• 2. Zannini, M, Francis-Lang, H, Plachov, D, Di Lauro, R. Pax-8, a paired domain-containing protein, binds to a sequence overlapping the recognition site of a homeodomain and activates transcription from two thyroid-specific promoters. Mol Cell Biol 1992;12: 4230-41.
• 3. Guazzi, S, Price, M, De Felice, M, Damante, G, Mattei, MG, Di Lauro, R. Thyroid nuclear factor 1 (TTF-1) contains a homeodomain and displays a novel DNA binding specificity. EMBO J 1990;9: 3631-9.
• 4. Lazzaro, D, Price, M, de Felice, M, Di Lauro, R. The transcription factor TTF-1 is expressed at the onset of thyroid and lung morphogenesis and in restricted regions of the foetal brain. Development 1991;113: 1093-104.
• 5. Zannini, M, Avantaggiato, V, Biffali, E, Arnone, MI, Sato, K, Pischetola, M, et al. TTF-2, a new forkhead protein, shows a temporal expression in the developing thyroid which is consistent with a role in controlling the onset of differentiation. EMBO J 1997;16: 3185-97.

タイトルに関連する用語 (6件)： 家族 ,  甲状腺低形成 ,  誘発 ,  Pax8 ,  変異 ,  同定