{"_buckets": {"deposit": "bef62972-4e24-4ed4-b65e-1cb49b32d8fd"}, "_deposit": {"id": "21406", "owners": [], "pid": {"revision_id": 0, "type": "depid", "value": "21406"}, "status": "published"}, "_oai": {"id": "oai:soar-ir.repo.nii.ac.jp:00021406", "sets": ["849"]}, "author_link": ["109533"], "item_14_biblio_info_6": {"attribute_name": "書誌情報", "attribute_value_mlt": [{"bibliographicIssueDates": {"bibliographicIssueDate": "2020-03-31", "bibliographicIssueDateType": "Issued"}}]}, "item_14_date_granted_8": {"attribute_name": "学位授与年月日", "attribute_value_mlt": [{"subitem_dategranted": "2020-03-31"}]}, "item_14_degree_grantor_10": {"attribute_name": "学位授与機関", "attribute_value_mlt": [{"subitem_degreegrantor": [{"subitem_degreegrantor_name": "信州大学(Shinshu university)"}]}]}, "item_14_degree_name_9": {"attribute_name": "学位名", "attribute_value_mlt": [{"subitem_degreename": "博士（医学）"}]}, "item_14_description_26": {"attribute_name": "内容記述", "attribute_value_mlt": [{"subitem_description": "雑誌に発表。GENES. 10(9):715 (2019); doi:10.3390/genes10090715.", "subitem_description_type": "Other"}]}, "item_14_description_37": {"attribute_name": "資源タイプ（コンテンツの種類）", "attribute_value_mlt": [{"subitem_description": "Thesis", "subitem_description_type": "Other"}]}, "item_14_description_5": {"attribute_name": "引用", "attribute_value_mlt": [{"subitem_description": "杉山　健二郎. Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss （OTOA遺伝子変異による難聴の臨床的特徴は中音域の難聴である）. 信州大学, 2020, 博士論文.", "subitem_description_type": "Other"}]}, "item_14_dissertation_number_7": {"attribute_name": "学位授与番号", "attribute_value_mlt": [{"subitem_dissertationnumber": "13601甲第1196号"}]}, "item_14_link_74": {"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=000487954700075"}]}, "item_14_publisher_4": {"attribute_name": "出版者", "attribute_value_mlt": [{"subitem_publisher": "信州大学"}]}, "item_14_relation_54": {"attribute_name": "PubMed", "attribute_value_mlt": [{"subitem_relation_name": [{"subitem_relation_name_text": "31527525"}], "subitem_relation_type_id": {"subitem_relation_type_id_text": "http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search\u0026DB=pubmed\u0026term=31527525", "subitem_relation_type_select": "PMID"}}]}, "item_14_relation_55": {"attribute_name": "DOI", "attribute_value_mlt": [{"subitem_relation_name": [{"subitem_relation_name_text": "10.3390/genes10090715"}], "subitem_relation_type_id": {"subitem_relation_type_id_text": "https://doi.org/10.3390/genes10090715", "subitem_relation_type_select": "DOI"}}]}, "item_14_rights_69": {"attribute_name": "権利", "attribute_value_mlt": [{"subitem_rights": "© 2019 by the authors. Licensee MDPI, Basel, Switzerland. / This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/)."}]}, "item_14_select_71": {"attribute_name": "著者版フラグ", "attribute_value_mlt": [{"subitem_select_item": "ETD"}]}, "item_14_text_11": {"attribute_name": "学位の区分", "attribute_value_mlt": [{"subitem_text_value": "Doctoral"}]}, "item_14_text_12": {"attribute_name": "学位の分野", "attribute_value_mlt": [{"subitem_text_value": "医学"}]}, "item_14_text_13": {"attribute_name": "学位の報告番号", "attribute_value_mlt": [{"subitem_text_value": "甲第1196号"}]}, "item_14_text_76": {"attribute_name": "wosonly authkey", "attribute_value_mlt": [{"subitem_text_value": "OTOA; DFNB22; hearing loss; copy number variations"}]}, "item_14_text_77": {"attribute_name": "wosonly keywords", "attribute_value_mlt": [{"subitem_text_value": "COPY NUMBER VARIATIONS; MUTATIONS; VARIANTS; IMPAIRMENT; SEQUENCE; IDENTIFICATION; PATHOGENICITY; SPECTRUM; FAMILY; GENES"}]}, "item_14_textarea_75": {"attribute_name": "wosonly abstract", "attribute_value_mlt": [{"subitem_textarea_value": "The OTOA gene (Locus: DFNB22) is reported to be one of the causative genes for non-syndromic autosomal recessive hearing loss. The copy number variations (CNVs) identified in this gene are also known to cause hearing loss, but have not been identified in Japanese patients with hearing loss. Furthermore, the clinical features of OTOA-associated hearing loss have not yet been clarified. In this study, we performed CNV analyses of a large Japanese hearing loss cohort, and identified CNVs in 234 of 2262 (10.3%, 234/2262) patients with autosomal recessive hearing loss. Among the identified CNVs, OTOA gene-related CNVs were the second most frequent (0.6%, 14/2262). Among the 14 cases, 2 individuals carried OTOA homozygous deletions, 4 carried heterozygous deletions with single nucleotide variants (SNVs) in another allele. Additionally, 1 individual with homozygous SNVs in the OTOA gene was also identified. Finally, we identified 7 probands with OTOA-associated hearing loss, so that its prevalence in Japanese patients with autosomal recessive hearing loss was calculated to be 0.3% (7/2262). As novel clinical features identified in this study, the audiometric configurations of patients with OTOA-associated hearing loss were found to be mid-frequency. This is the first study focused on the detailed clinical features of hearing loss caused by this gene mutation and/or gene deletion."}]}, "item_1627890986942": {"attribute_name": "出版タイプ", "attribute_value_mlt": [{"subitem_version_resource": "http://purl.org/coar/version/c_be7fb7dd8ff6fe43", "subitem_version_type": "NA"}]}, "item_creator": {"attribute_name": "著者", "attribute_type": "creator", "attribute_value_mlt": [{"creatorNames": [{"creatorName": "杉山, 健二郎"}], "nameIdentifiers": [{"nameIdentifier": "109533", "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": "2020-06-12"}], "displaytype": "detail", "download_preview_message": "", "file_order": 0, "filename": "16MH016K_yoshi.pdf", "filesize": [{"value": "152.4 kB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_note", "mimetype": "application/pdf", "size": 152400.0, "url": {"label": "内容の要旨", "url": "https://soar-ir.repo.nii.ac.jp/record/21406/files/16MH016K_yoshi.pdf"}, "version_id": "b301516c-ec14-42bd-8876-ae7a0999f9bf"}, {"accessrole": "open_date", "date": [{"dateType": "Available", "dateValue": "2020-06-12"}], "displaytype": "detail", "download_preview_message": "", "file_order": 1, "filename": "16MH016K_shinsa.pdf", "filesize": [{"value": "166.0 kB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_note", "mimetype": "application/pdf", "size": 166000.0, "url": {"label": "審査結果の要旨", "url": "https://soar-ir.repo.nii.ac.jp/record/21406/files/16MH016K_shinsa.pdf"}, "version_id": "3bbf9d33-08c2-439b-86b9-e9feebf1242e"}, {"accessrole": "open_date", "date": [{"dateType": "Available", "dateValue": "2020-06-12"}], "displaytype": "detail", "download_preview_message": "", "file_order": 2, "filename": "16MH016K_ronbun.pdf", "filesize": [{"value": "494.6 kB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensefree": "© 2019 by the authors. Licensee MDPI, Basel, Switzerland. / This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).", "licensetype": "license_note", "mimetype": "application/pdf", "size": 494600.0, "url": {"label": "博士論文の全文", "url": "https://soar-ir.repo.nii.ac.jp/record/21406/files/16MH016K_ronbun.pdf"}, "version_id": "7c676e76-ebe0-414b-847a-0748b46cf706"}]}, "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": "doctoral thesis", "resourceuri": "http://purl.org/coar/resource_type/c_db06"}]}, "item_title": "Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss （OTOA遺伝子変異による難聴の臨床的特徴は中音域の難聴である）", "item_titles": {"attribute_name": "タイトル", "attribute_value_mlt": [{"subitem_title": "Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss （OTOA遺伝子変異による難聴の臨床的特徴は中音域の難聴である）", "subitem_title_language": "en"}]}, "item_type_id": "14", "owner": "1", "path": ["849"], "permalink_uri": "http://hdl.handle.net/10091/00022163", "pubdate": {"attribute_name": "PubDate", "attribute_value": "2020-06-15"}, "publish_date": "2020-06-15", "publish_status": "0", "recid": "21406", "relation": {}, "relation_version_is_last": true, "title": ["Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss （OTOA遺伝子変異による難聴の臨床的特徴は中音域の難聴である）"], "weko_shared_id": -1}