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J-GLOBAL ID：201202281743548341   Reference number：12A1689617

TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion

透明帯ドメイン蛋白質分泌の影響を受ける中音域聴覚障害を有する日本人におけるTECTA遺伝子変異

Author (8)： MOTEKI Hideaki (Shinshu Univ. School of Medicine, Matsumoto, JPN) ,  NISHIO Shin-ya (Shinshu Univ. School of Medicine, Matsumoto, JPN) ,  HASHIMOTO Shigenari (Shinshu Univ. School of Medicine, Matsumoto, JPN) ,  TAKUMI Yutaka (Shinshu Univ. School of Medicine, Matsumoto, JPN) ,  IWASAKI Satoshi (Shinshu Univ. School of Medicine, Matsumoto, JPN) ,  TAKEICHI Norihito (Hokkaido Univ. School of Medicine, Sapporo, JPN) ,  FUKUDA Satoshi (Hokkaido Univ. School of Medicine, Sapporo, JPN) ,  USAMI Shin-ichi (Shinshu Univ. School of Medicine, Matsumoto, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 57  Issue： 9  Page： 587-592  Publication year： Sep. 2012 
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： zona pellucida ,...
Semi thesaurus term： *TECTA遺伝子 ,...

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JST classification (4)： Diseases of ear,nose,pharynx and larynx  (GQ03000X) ,  Molecular genetics in general  (EC02010J) ,  Metabolism in general  (EB03050F) ,  Reproductive physiology in general  (EJ15010E)

Reference (11)：

• KIRSCHHOFER, K. Autosomal-dominant, prelingual, nonprogressive sensorineural hearing loss : localization of the gene (DFNA8) to chromosome 11q by linkage in an Austrian family. Cytogenet. Cell Genet. 1998, 82, 126-130
• VERHOEVEN, K. V. L. L. Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. Nat. Genet. 1998, 19, 60-62
• BALCIUNIENE, J. Alpha-tectorin involvement in hearing disabilities : one gene-two phenotypes. Hum. Genet. 1999, 105, 211-216
• PLANTINGA, R. F. A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation. Jaro. 2006, 7, 173-181
• SAGONG, B. Two novel missense mutations in the TECTA gene in Korean families with autosomal dominant nonsyndromic hearing loss. Ann. Clin. Lab. Sci. 2010, 40, 380-385

Terms in the title (6)： 透明帯 ,  ドメイン ,  蛋白質分泌 ,  中音域聴覚障害 ,  日本人 ,  遺伝子変異