Art

J-GLOBAL ID：200902180998678730   Reference number：02A0355329

Impaired interactions between mouse Eya1 harboring mutations found in patients with branchio-oto-renal syndrome and Six, Dach, and G proteins.

さいの耳腎症候群患者で発見された突然変異を含むマウスEya1とSix,Dach及びG蛋白質との間の損なわれた相互作用

Author (4)： OZAKI H (Jichi Medical School, Tochigi, JPN) ,  WATANABE Y (Jichi Medical School, Tochigi, JPN) ,  IKEDA K (Jichi Medical School, Tochigi, JPN) ,  KAWAKAMI K (Jichi Medical School, Tochigi, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 47  Issue： 3  Page： 107-116  Publication year： 2002 
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： *hereditary disease ,...
Semi thesaurus term： 眼欠損症 ,...

   To see more with JDream III (charged).   {{ this.onShowAbsJLink("http://jdream3.com/lp/jglobal/index.html?docNo=02A0355329&from=J-GLOBAL&jstjournalNo=Z0756A") }}

JST classification (4)： Congenital diseases,deformities in general.  (GD03010V) ,  Basic ophthalmology  (GP01020C) ,  Visual sense  (EJ13020B) ,  Molecular genetics in general  (EC02010J)

Reference (28)：

• ABDELHAK, S. Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. Hum Mol Genet. 1997, 6, 2247-2255
• ABDELHAK, S. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet. 1997, 15, 157-164
• AZUMA, N. Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. Hum Mol Genet. 2000, 9, 363-366
• BONINI, NM. The eyes absent gene : genetic control of cell survival and differentiation in the developing Drosophila eye. Cell. 1993, 72, 379-395
• BUI, QT. Molecular analysis of Drosophila eyes absent mutants reveals features of the conserved Eya domain. Genetics. 2000, 155, 709-720

Terms in the title (10)： さい ,  耳 ,  腎 ,  症候群 ,  患者 ,  発見 ,  突然変異 ,  マウス ,  G蛋白質 ,  相互作用