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J-GLOBAL ID：200902217248963000   Reference number：04A0029073

Mutations in the gene encoding KIAA1199 protein, an inner-ear protein expressed in Deiters’ cells and the fibrocytes, as the cause of nonsyndromic hearing loss

Deiters細胞と線維細胞で発現する内耳蛋白質KIAA1199蛋白質をコードする遺伝子における非症候群性聴覚欠失の原因としての変異

Author (3)： ABE S (Univ. Tokyo, Tokyo, JPN) ,  USAMI S (Shinshu Univ. School of Medicine, Matsumoto, JPN) ,  NAKAMURA Y (Univ. Tokyo, Tokyo, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 48  Issue： 11  Page： 564-570  Publication year： 2003 
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： human(primates) ,...
Semi thesaurus term： KIAA1199遺伝子 ,...

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JST classification (2)： Genetic variation  (EC01030Y) ,  Auditory sense  (EJ13030M)

Reference (11)：

• ABE, S. Connexin-26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A->G mitochondrial mutation. Am J Med Genet. 2001, 103, 334-338
• ABE, S. Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues. Am J Hum Genet. 2003, 72, 73-82
• BOETTGER, T. Deafness and renal tubular acidosis in mice lacking the K-Cl co-transporter Kcc4. Nature. 2002, 416, 874-878
• DE BROUWER, AP. Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family. Hum Genet. 2003, 112, 156-163
• FLOCK, A. Supporting cells contribute to control of hearing sensitivity. J Neurosci. 1999, 19, 4498-4507

Terms in the title (12)： 細胞 ,  線維細胞 ,  発現 ,  内耳 ,  蛋白質 ,  KIAA1199 ,  遺伝子 ,  症候群 ,  聴覚 ,  欠失 ,  原因 ,  変異