{"created":"2021-03-01T06:11:01.857516+00:00","id":7182,"links":{},"metadata":{"_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","sets":["461:848:849"]},"author_link":["17355","17356","17357","17358","17359","17360","17361","17362"],"item_1628147817048":{"attribute_name":"出版タイプ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_ab4af688f83e57aa","subitem_version_type":"AM"}]},"item_6_biblio_info_6":{"attribute_name":"書誌情報","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":"内容記述","attribute_value_mlt":[{"subitem_description":"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","subitem_description_type":"Other"}]},"item_6_description_20":{"attribute_name":"抄録","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":"資源タイプ（コンテンツの種類）","attribute_value_mlt":[{"subitem_description":"Article","subitem_description_type":"Other"}]},"item_6_description_5":{"attribute_name":"引用","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_url":"http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=ShinshuUniv&SrcApp=ShinshuUniv&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000309508300008"}]},"item_6_publisher_4":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"NATURE PUBLISHING GROUP"}]},"item_6_relation_47":{"attribute_name":"PubMed","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"22718023"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=pubmed&term=22718023","subitem_relation_type_select":"PMID"}}]},"item_6_relation_48":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"10.1038/jhg.2012.73"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://doi.org/10.1038/jhg.2012.73","subitem_relation_type_select":"DOI"}}]},"item_6_source_id_35":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"1434-5161","subitem_source_identifier_type":"ISSN"}]},"item_6_source_id_40":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AA11206160","subitem_source_identifier_type":"NCID"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Moteki,  Hideaki"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Nishio,  Shin-ya"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Hashimoto,  Shigenari"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Takumi,  Yutaka"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Iwasaki,  Satoshi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Takeichi,  Norihito"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Fukuda,  Satoshi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Usami,  Shin-ichi"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2015-09-25"}],"displaytype":"detail","filename":"H24Otsu1146_Moteki.pdf","filesize":[{"value":"3.7 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"H24Otsu1146_Moteki.pdf","url":"https://soar-ir.repo.nii.ac.jp/record/7182/files/H24Otsu1146_Moteki.pdf"},"version_id":"27bce37e-8ef2-4760-b66d-0951c53f3557"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"autosomal dominant hearing loss","subitem_subject_scheme":"Other"},{"subitem_subject":"genotype-phenotype correlations","subitem_subject_scheme":"Other"},{"subitem_subject":"mid-frequency hearing loss","subitem_subject_scheme":"Other"},{"subitem_subject":"TECTA","subitem_subject_scheme":"Other"},{"subitem_subject":"zona pellucida domain","subitem_subject_scheme":"Other"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"eng"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion","subitem_title_language":"en"}]},"item_type_id":"6","owner":"1","path":["849"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2013-03-26"},"publish_date":"2013-03-26","publish_status":"0","recid":"7182","relation_version_is_last":true,"title":["TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion"],"weko_creator_id":"1","weko_shared_id":-1},"updated":"2022-12-14T03:54:11.882153+00:00"}