Art

J-GLOBAL ID：200902126858207490   Reference number：01A0695833

The genomic structure and expression of MJD, the Machado-Joseph disease gene.

Machado-Joseph病遺伝子MJDのゲノム構造及び発現

Author (9)： ICHIKAWA Y (Univ. Tokyo, Tokyo, JPN) ,  GOTO J (Univ. Tokyo, Tokyo, JPN) ,  HATTORI M (RIKEN, Yokohama, JPN) ,  JEONG S-Y (JST-CREST, Saitama, JPN) ,  HASHIDA H (JST-CREST, Saitama, JPN) ,  KASAI F (Univ. Tokyo, Tokyo, JPN) ,  MACIEL P (Univ. Porto, Porto, PRT) ,  ROULEAU G A (McGill Univ., Quebec, CAN) ,  KANAZAWA I (Univ. Tokyo, Tokyo, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 46  Issue： 7  Page： 413-422  Publication year： 2001 
JST Material Number： Z0756A  ISSN： 1434-5161  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： *Cerebellar Ataxia ,...
Semi thesaurus term： Machado-Joseph病 ,...

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JST classification (2)： Nervous system diseases  (GN03000O) ,  Structure and chemistry of genes  (EC02020U)

Reference (33)：

• BANFI, S. Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nat Genet. 1994, 7, 513-520
• CEMAL, CK. Insertion of expanded CAG trinucleotide repeat motifs into a yeast artificial chromosome containing the human Machado-Joseph disease gene. Gene. 1999, 236, 53-61
• CEMAL, C. Transgenic animals carrying pathological alleles at the MJD1 locus exhibit a mild and slowly progressive cerebellar deficit (abstract). Am J Hum Genet. 1999, 65, Suppl, 104
• DAVID, G. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet. 1997, 17, 65-70
• FLEISCHMANN, RD. Whole-genome random sequencing and assembly of Haemophilus influenzae Rd. Science. 1995, 269, 496-498

Terms in the title (4)： Machado-Joseph病 ,  遺伝子 ,  ゲノム構造 ,  発現