{"_buckets": {"deposit": "3a5ae912-a2e1-417e-a597-7e0cff3998a5"}, "_deposit": {"id": "7182", "owners": [], "pid": {"revision_id": 0, "type": "depid", "value": "7182"}, "status": "published"}, "_oai": {"id": "oai:soar-ir.repo.nii.ac.jp:00007182"}, "item_6_biblio_info_6": {"attribute_name": "\u66f8\u8a8c\u60c5\u5831", "attribute_value_mlt": [{"bibliographicIssueDates": {"bibliographicIssueDate": "2012-09", "bibliographicIssueDateType": "Issued"}, "bibliographicIssueNumber": "9", "bibliographicPageEnd": "592", "bibliographicPageStart": "587", "bibliographicVolumeNumber": "57", "bibliographic_titles": [{"bibliographic_title": "JOURNAL OF HUMAN GENETICS"}]}]}, "item_6_description_19": {"attribute_name": "\u5185\u5bb9\u8a18\u8ff0", "attribute_value_mlt": [{"subitem_description": "\u4fe1\u5dde\u5927\u5b66\u535a\u58eb\uff08\u533b\u5b66\uff09\u30fb\u5b66\u4f4d\u8ad6\u6587\u30fb\u5e73\u621024\u5e747\u67083\u65e5\u6388\u4e0e\uff08\u4e59\u7b2c1146\u53f7\uff09\u30fb\u8302\u6728\u82f1\u660e", "subitem_description_type": "Other"}]}, "item_6_description_20": {"attribute_name": "\u6284\u9332", "attribute_value_mlt": [{"subitem_description": "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", "subitem_description_type": "Abstract"}]}, "item_6_description_30": {"attribute_name": "\u8cc7\u6e90\u30bf\u30a4\u30d7\uff08\u30b3\u30f3\u30c6\u30f3\u30c4\u306e\u7a2e\u985e\uff09", "attribute_value_mlt": [{"subitem_description": "Article", "subitem_description_type": "Other"}]}, "item_6_description_5": {"attribute_name": "\u5f15\u7528", "attribute_value_mlt": [{"subitem_description": "JOURNAL OF HUMAN GENETICS. 57(9):587-592 (2012)", "subitem_description_type": "Other"}]}, "item_6_link_67": {"attribute_name": "WoS", "attribute_value_mlt": [{"subitem_link_text": "Web of Science", "subitem_link_url": "http://gateway.isiknowledge.com/gateway/Gateway.cgi?\u0026GWVersion=2\u0026SrcAuth=ShinshuUniv\u0026SrcApp=ShinshuUniv\u0026DestLinkType=FullRecord\u0026DestApp=WOS\u0026KeyUT=000309508300008"}]}, "item_6_publisher_4": {"attribute_name": "\u51fa\u7248\u8005", "attribute_value_mlt": 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"ISSN"}]}, "item_6_source_id_39": {"attribute_name": "NII ISSN", "attribute_value_mlt": [{"subitem_source_identifier": "1434-5161", "subitem_source_identifier_type": "ISSN"}]}, "item_6_source_id_40": {"attribute_name": "\u66f8\u8a8c\u30ec\u30b3\u30fc\u30c9ID", "attribute_value_mlt": [{"subitem_source_identifier": "AA11206160", "subitem_source_identifier_type": "NCID"}]}, "item_creator": {"attribute_name": "\u8457\u8005", "attribute_type": "creator", "attribute_value_mlt": [{"creatorNames": [{"creatorName": "Moteki,  Hideaki"}], "nameIdentifiers": [{"nameIdentifier": "17355", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Nishio,  Shin-ya"}], "nameIdentifiers": [{"nameIdentifier": "17356", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Hashimoto,  Shigenari"}], "nameIdentifiers": [{"nameIdentifier": "17357", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Takumi,  Yutaka"}], "nameIdentifiers": [{"nameIdentifier": "17358", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Iwasaki,  Satoshi"}], "nameIdentifiers": [{"nameIdentifier": "17359", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Takeichi,  Norihito"}], "nameIdentifiers": [{"nameIdentifier": "17360", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Fukuda,  Satoshi"}], "nameIdentifiers": [{"nameIdentifier": "17361", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Usami,  Shin-ichi"}], "nameIdentifiers": [{"nameIdentifier": "17362", "nameIdentifierScheme": "WEKO"}]}]}, "item_files": {"attribute_name": "\u30d5\u30a1\u30a4\u30eb\u60c5\u5831", "attribute_type": "file", "attribute_value_mlt": [{"accessrole": "open_date", "date": [{"dateType": "Available", "dateValue": "2015-09-25"}], "displaytype": "detail", "download_preview_message": "", "file_order": 0, "filename": "H24Otsu1146_Moteki.pdf", "filesize": [{"value": "3.7 MB"}], "format": "application/pdf", 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