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J-GLOBAL ID：200902256867070300   Reference number：07A0803410

Imprinting status of paternally imprinted DLX5 gene in Japanese patients with Rett syndrome

Rett症候群の日本人患者での父性刷込みDLX5遺伝子の刷込み状態

Author (7)： ITABA-MATSUMOTO Noriko (Div. of Functional Genomics, Res. Center for Bioscience and Technol., Tottori Univ., 86 Nishicho, Yonago, Tottori ...) ,  ITABA-MATSUMOTO Noriko (Dep. of Biomedical Sci., Regenerative Medicine and Biofunction, Graduate School of Medical Sci., Tottori Univ., 86 ...) ,  MAEGAWA Shinji (Div. of Functional Genomics, Res. Center for Bioscience and Technol., Tottori Univ., 86 Nishicho, Yonago, Tottori ...) ,  YAMAGATA Hidehisa (Dep. of Preventive Medicine, Ehime Univ. Graduate School of Medicine, Toon-city, Ehime 791-0295, JPN) ,  KONDO Ikuko (Dep. of Pediatrics, Ibaraki Prefectural Handicapped Children’s Center, Mito-City, Ibaraki 310-0845, JPN) ,  OSHIMURA Mitsuo (Dep. of Biomedical Sci., Regenerative Medicine and Biofunction, Graduate School of Medical Sci., Tottori Univ., 86 ...) ,  NANBA Eiji (Div. of Functional Genomics, Res. Center for Bioscience and Technol., Tottori Univ., 86 Nishicho, Yonago, Tottori ...)
Material： Brain & Development  (Brain & Dev)
Volume： 29  Issue： 8  Page： 491-495  Publication year： Sep. 2007 
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： *Rett Syndrome ,...
Semi thesaurus term： *DLX5遺伝子 ,...

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JST classification (1)： Mental disorders  (GR03000A)

Reference (20)：

• Hagberg B. Rett's syndrome: prevalence and impact on progressive severe mental retardation in girls. Acta Paediatr Scand 1985;74:405-8.
• Hagberg B, Aicardi J, Dias K, Ramos O. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Ann Neurol 1983;14:471-9.
• Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999;23:185-8.
• Wade PA. Methyl CpG-binding proteins and transcriptional repression. Bioessays 2001;23:1131-7.
• Tudor M, Akbarian S, Chen RZ, Jaenisch R. Transcriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain. Proc Natl Acad Sci USA 2002;99:15536-41.

Terms in the title (7)： Rett症候群 ,  日本人 ,  患者 ,  父性 ,  刷込み ,  Dlx5 ,  遺伝子