{"_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": ["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_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": "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\u0026DB=pubmed\u0026term=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_select_64": {"attribute_name": "著者版フラグ", "attribute_value_mlt": [{"subitem_select_item": "author"}]}, "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_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": "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": [{"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": "ファイル情報", "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", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_note", "mimetype": "application/pdf", "size": 3700000.0, "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"], "permalink_uri": "http://hdl.handle.net/10091/16850", "pubdate": {"attribute_name": "PubDate", "attribute_value": "2013-03-26"}, "publish_date": "2013-03-26", "publish_status": "0", "recid": "7182", "relation": {}, "relation_version_is_last": true, "title": ["TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion"], "weko_shared_id": -1}