Art

J-GLOBAL ID：201402294013650808   Reference number：14A0885310

Disruption of Aspm causes microcephaly with abnormal neuronal differentiation

Aspmの破壊は異常神経分化を伴う小頭症を誘発する

Author (9)： 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 ...)
Material： Brain & Development  (Brain & Dev)
Volume： 36  Issue： 8  Page： 661-669  Publication year： Sep. 2014 
JST Material Number： W0814A  ISSN： 0387-7604  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Thesaurus term： knockout mouse ,...
Semi thesaurus term： *Aspm

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JST classification (1)： Basic neurology  (GN01020W)

Reference (32)：

• 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.

Terms in the title (4)： 破壊 ,  神経分化 ,  小頭症 ,  誘発