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TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion
http://hdl.handle.net/10091/16850
http://hdl.handle.net/10091/16850553ba3eb-e18a-4b93-b5fe-ee91f2fa46f8
| 名前 / ファイル | ライセンス | アクション |
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H24Otsu1146_Moteki.pdf (3.7 MB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||||||||||||||||||
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| 公開日 | 2013-03-26 | |||||||||||||||||||||
| タイトル | ||||||||||||||||||||||
| タイトル | TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion | |||||||||||||||||||||
| 言語 | ||||||||||||||||||||||
| 言語 | eng | |||||||||||||||||||||
| DOI | ||||||||||||||||||||||
| 関連識別子 | https://doi.org/10.1038/jhg.2012.73 | |||||||||||||||||||||
| 関連名称 | 10.1038/jhg.2012.73 | |||||||||||||||||||||
| キーワード | ||||||||||||||||||||||
| 主題 | autosomal dominant hearing loss, genotype-phenotype correlations, mid-frequency hearing loss, TECTA, zona pellucida domain | |||||||||||||||||||||
| 資源タイプ | ||||||||||||||||||||||
| 資源 | http://purl.org/coar/resource_type/c_6501 | |||||||||||||||||||||
| タイプ | journal article | |||||||||||||||||||||
| 著者 |
Moteki, Hideaki
× Moteki, Hideaki
× Nishio, Shin-ya
× Hashimoto, Shigenari
× Takumi, Yutaka
× Iwasaki, Satoshi
× Takeichi, Norihito
× Fukuda, Satoshi
× Usami, Shin-ichi
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| 出版者 | ||||||||||||||||||||||
| 出版者 | NATURE PUBLISHING GROUP | |||||||||||||||||||||
| 引用 | ||||||||||||||||||||||
| 内容記述 | JOURNAL OF HUMAN GENETICS. 57(9):587-592 (2012) | |||||||||||||||||||||
| 書誌情報 |
JOURNAL OF HUMAN GENETICS 巻 57, 号 9, p. 587-592, 発行日 2012-09 |
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| 内容記述 | ||||||||||||||||||||||
| 内容記述タイプ | Other | |||||||||||||||||||||
| 内容記述 | 信州大学博士（医学）・学位論文・平成24年7月3日授与（乙第1146号）・茂木英明 | |||||||||||||||||||||
| 抄録 | ||||||||||||||||||||||
| 内容記述 | TECTA gene encodes alpha-tectorin, the major component of noncollagenous glycoprotein of the tectorial membrane, and has a role in intracochlear sound transmission. The TECTA mutations are one of the most frequent causes of autosomal dominant (AD) hearing loss and genotype-phenotype correlations are associated with mutations of TECTA in exons according to alpha-tectorin domains. In this study, we investigated the prevalence of hearing loss caused by TECTA mutations in Japanese AD hearing loss families, and confirmed genotype-phenotype correlation, as well as the intracellular localization of missense mutations in the alpha-tectorin domain. TECTA mutations were detected in 2.9% (4/139) of our Japanese AD hearing loss families, with the prevalence in moderate hearing loss being 7.7% (4/52), and all patients showed typical genotype-phenotype correlations as previously described. The present in vitro study showed differences of localization patterns between wild type and mutants, and suggested that each missense mutation may lead to a lack of assembly of secretion, and may reduce the incorporation of alpha-tectorin into the tectorial membrane. Journal of Human Genetics (2012) 57, 587-592; doi:10.1038/jhg.2012.73; published online 21 June 2012 | |||||||||||||||||||||
| 資源タイプ（コンテンツの種類） | ||||||||||||||||||||||
| ISSN | ||||||||||||||||||||||
| 収録物識別子タイプ | ISSN | |||||||||||||||||||||
| 収録物識別子 | 1434-5161 | |||||||||||||||||||||
| 書誌レコードID | ||||||||||||||||||||||
| 収録物識別子タイプ | NCID | |||||||||||||||||||||
| 収録物識別子 | AA11206160 | |||||||||||||||||||||
| PubMed | ||||||||||||||||||||||
| 識別子タイプ | PMID | |||||||||||||||||||||
| 関連識別子 | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=pubmed&term=22718023 | |||||||||||||||||||||
| 関連名称 | 22718023 | |||||||||||||||||||||
| 出版タイプ | ||||||||||||||||||||||
| 出版タイプ | AM | |||||||||||||||||||||
| 出版タイプResource | http://purl.org/coar/version/c_ab4af688f83e57aa | |||||||||||||||||||||
| WoS | ||||||||||||||||||||||
| URL | http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=ShinshuUniv&SrcApp=ShinshuUniv&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000309508300008 | |||||||||||||||||||||
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Cite as
Moteki, Hideaki, Nishio, Shin-ya, Hashimoto, Shigenari, Takumi, Yutaka, Iwasaki, Satoshi, Takeichi, Norihito, Fukuda, Satoshi, Usami, Shin-ichi, 2012, TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion: NATURE PUBLISHING GROUP, 587–592 p.
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