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J-GLOBAL ID：201702264026428261   Reference number：17A1697871

D40/KNL1/CASC5 and autosomal recessive primary microcephaly

D40/KNL1/CASCと常染色体劣性原発性小頭症

Author (1)： Takimoto Masato (Institute for Genetic Medicine, Hokkaido University, Sapporo, Japan)
Material： Congenital Anomalies (Web)  (Congenit Anom (Web))
Volume： 57  Issue： 6  Page： 191-196  Publication year： 2017 
JST Material Number： U0506A  ISSN： 1741-4520  Document type： Article
Article type： 文献レビュー  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： Heredity ,...
Semi thesaurus term： *genetic variation ,...

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Author keywords (5)： cancer/testis ,  CASC5 ,  D40 ,  kinetochore ,  MCPH4

JST classification (2)： Basic neurology  (GN01020W) ,  Molecular genetics in general  (EC02010J)

Reference (37)：

• Alcantara D, O’Driscoll M. 2014. Congenital microcephaly. Am J Med Genet C Semin Med Genet 166C:124-139.
• Awad S, Al-Dosari MS, Al-Yacoub N et al. 2013. Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis. Hum Mol Genet 22:2200-2213.
• Barbelanne M, Tsang WY. 2014. Molecular and cellular basis of autosomal recessive primary microcephaly. Biomed Res Int 2014:5479-5486.
• Bond J, Roberts E, Mochida GH et al. 2002. ASPM is a major determinant of cerebral cortical size. Nat Genet 32:316-320.
• Bond J, Roberts E, Springell K et al. 2005. A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet 37:353-355.

Terms in the title (4)： 常染色体 ,  劣性 ,  原発 ,  小頭症