文献

J-GLOBAL ID：201402294013650808   整理番号：14A0885310

Aspmの破壊は異常神経分化を伴う小頭症を誘発する

Disruption of Aspm causes microcephaly with abnormal neuronal differentiation

著者 (9件)： FUJIMORI Akira (Heavy-Ion Radiobiology Res. Group, Center for Charged Particle Therapy, National Inst. of Radiological Sciences ...) ,  ITOH Kyoko (Dep. of Pathology and Applied Neurobiology, Graduate School of Medical Sci., Kyoto Prefectural Univ. of Medicine ...) ,  GOTO Shoko (Dep. of Pathology and Applied Neurobiology, Graduate School of Medical Sci., Kyoto Prefectural Univ. of Medicine ...) ,  HIRAKAWA Hirokazu (Heavy-Ion Radiobiology Res. Group, Center for Charged Particle Therapy, National Inst. of Radiological Sciences ...) ,  WANG Bing (Heavy-Ion Radiobiology Res. Group, Center for Charged Particle Therapy, National Inst. of Radiological Sciences ...) ,  KOKUBO Toshiaki (Heavy-Ion Radiobiology Res. Group, Center for Charged Particle Therapy, National Inst. of Radiological Sciences ...) ,  KITO Seiji (Heavy-Ion Radiobiology Res. Group, Center for Charged Particle Therapy, National Inst. of Radiological Sciences ...) ,  TSUKAMOTO Satoshi (Heavy-Ion Radiobiology Res. Group, Center for Charged Particle Therapy, National Inst. of Radiological Sciences ...) ,  FUSHIKI Shinji (Dep. of Pathology and Applied Neurobiology, Graduate School of Medical Sci., Kyoto Prefectural Univ. of Medicine ...)
資料名： Brain & Development  (Brain & Development)
巻： 36  号： 8  ページ： 661-669  発行年： 2014年09月 
JST資料番号： W0814A  ISSN： 0387-7604  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： オランダ (NLD)  言語： 英語 (EN)

抄録/ポイント： 目的:多数のASPM変異が原発小頭症患者で検出されている。脳...

シソーラス用語： ノックアウトマウス ,...
準シソーラス用語： *Aspm ,...

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分類 (1件)： 神経の基礎医学  (GN01020W)

引用文献 (32件)：

• Bond J, Roberts E, Mochida GH, Hampshire DJ, Scott S, Askham JM, et al. ASPM is a major determinant of cerebral cortical size. Nat Genet 2002;32:316-20.
• Bond J, Scott S, Hampshire DJ, Springell K, Corry P, Abramowicz MJ, et al. Protein-truncating mutations in ASPM cause variable reduction in brain size. Am J Hum Genet 2003;73: 1170-7.
• Kumar A, Blanton SH, Babu M, Markandaya M, Girimaji SC. Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations. Clin Genet 2004;66:341-8.
• Pichon B, Vankerckhove S, Bourrouillou G, et al. A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly. Eur J Hum Genet 2004;12:419-21.
• Shen J, Eyaid W, Mochida GH, Al-Moayyad F, Bodell A, Woods CG, et al. ASPM mutations identified in patients with primary microcephaly and seizures. J Med Genet 2005;42:725-9.

タイトルに関連する用語 (4件)： 破壊 ,  神経分化 ,  小頭症 ,  誘発