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Social health insurance-based simultaneous screening for 154 mutations in 19 deafness genes efficiently identified causative mutations in Japanese hearing loss patients(国民健康保険を基にした日本人難聴患者における難聴原因遺伝子19遺伝子154変異のスクリーニング). 信州大学, 2017, 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乙第1202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=000383680600025"}]}, "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": "27627659"}], "subitem_relation_type_id": {"subitem_relation_type_id_text": "https://pubmed.ncbi.nlm.nih.gov/27627659/", "subitem_relation_type_select": "PMID"}}]}, "item_14_relation_55": {"attribute_name": "DOI", "attribute_value_mlt": [{"subitem_relation_name": [{"subitem_relation_name_text": "10.1371/journal.pone.0162230"}], "subitem_relation_type_id": {"subitem_relation_type_id_text": "https://doi.org/10.1371/journal.pone.0162230", "subitem_relation_type_select": "DOI"}}]}, "item_14_rights_69": {"attribute_name": "権利", "attribute_value_mlt": [{"subitem_rights": "© 2016 Mori et al. 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The incidence of SNHL is estimated to be 1 in 500-1000 newborns. In more than half of these patients, the hearing loss is associated with genetic causes. In Japan, genetic testing for the patients with SNHL using the Invader assay to screen for 46 mutations in 13 deafness genes was approved by the Ministry of Health, Labour and Welfare for inclusion in social health insurance coverage in 2012. Furthermore, from August 2015, this genetic testing has been expanded to screen for 154 mutations in 19 deafness genes using targeted genomic enrichment with massively parallel DNA sequencing combined with the Invader assay and TaqMan genotyping. For this study we analyzed 717 unrelated Japanese hearing loss patients. The total allele frequency of 154 mutations in 19 deafness genes was 32.64% (468/1434) and the total numbers of cases associated with at least one mutation was 44.07% (316/717). Among these, we were able to diagnose 212 (30%) patients, indicating that the present screening could efficiently identify causative mutations in hearing loss patients. It is noteworthy that 27 patients (3.8%) had coexistent multiple mutations in different genes. Five of these 27 patients (0.7%, 5/717 overall) were diagnosed with genetic hearing loss affected by concomitant with responsible mutations in more than two different genes. For patients identified with multiple mutations in different genes, it is necessary to consider that several genes might have an impact on their phenotypes."}]}, "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_access_right": {"attribute_name": "アクセス権", "attribute_value_mlt": [{"subitem_access_right": "open access", "subitem_access_right_uri": "http://purl.org/coar/access_right/c_abf2"}]}, "item_creator": {"attribute_name": "著者", "attribute_type": "creator", "attribute_value_mlt": [{"creatorNames": [{"creatorName": "森, 健太郎", "creatorNameLang": "ja"}], "nameIdentifiers": [{"nameIdentifier": "103736", "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": "2017-06-06"}], "displaytype": "detail", "download_preview_message": "", "file_order": 0, "filename": "16MR0006_shinsa.pdf", "filesize": [{"value": "102.9 kB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_note", "mimetype": "application/pdf", "size": 102900.0, "url": {"label": "内容の要旨", "url": "https://soar-ir.repo.nii.ac.jp/record/19002/files/16MR0006_shinsa.pdf"}, "version_id": "2af5c6ab-240f-4307-9c6c-55f94918cf6f"}, {"accessrole": "open_date", "date": [{"dateType": "Available", "dateValue": "2017-06-06"}], "displaytype": "detail", "download_preview_message": "", "file_order": 1, "filename": "16MR0006_yoshi.pdf", "filesize": [{"value": "122.6 kB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_note", "mimetype": "application/pdf", "size": 122600.0, "url": {"label": "審査結果の要旨", "url": "https://soar-ir.repo.nii.ac.jp/record/19002/files/16MR0006_yoshi.pdf"}, "version_id": "403c6563-fe0d-44b0-a163-a5c1fbd0f864"}, {"accessrole": "open_date", "date": [{"dateType": "Available", "dateValue": "2017-06-06"}], "displaytype": "detail", "download_preview_message": "", "file_order": 2, "filename": "16MR0006_ronbun.pdf", "filesize": [{"value": "163.3 kB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensefree": "© 2016 Mori et al. 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Social health insurance-based simultaneous screening for 154 mutations in 19 deafness genes efficiently identified causative mutations in Japanese hearing loss patients(国民健康保険を基にした日本人難聴患者における難聴原因遺伝子19遺伝子154変異のスクリーニング)
http://hdl.handle.net/10091/00019764
http://hdl.handle.net/10091/00019764703d3826-b170-42ea-a76f-3829f5afa348
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審査結果の要旨 (122.6 kB)
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博士論文の全文 (163.3 kB)
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Item type | 学位論文 / Thesis or Dissertation(1) | |||||
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公開日 | 2017-06-06 | |||||
タイトル | ||||||
言語 | en | |||||
タイトル | Social health insurance-based simultaneous screening for 154 mutations in 19 deafness genes efficiently identified causative mutations in Japanese hearing loss patients(国民健康保険を基にした日本人難聴患者における難聴原因遺伝子19遺伝子154変異のスクリーニング) | |||||
言語 | ||||||
言語 | eng | |||||
資源タイプ | ||||||
資源 | http://purl.org/coar/resource_type/c_db06 | |||||
タイプ | doctoral thesis | |||||
アクセス権 | ||||||
アクセス権 | open access | |||||
アクセス権URI | http://purl.org/coar/access_right/c_abf2 | |||||
著者 |
森, 健太郎
× 森, 健太郎 |
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出版者 | ||||||
出版者 | 信州大学 | |||||
引用 | ||||||
内容記述タイプ | Other | |||||
内容記述 | 森 健太郎. Social health insurance-based simultaneous screening for 154 mutations in 19 deafness genes efficiently identified causative mutations in Japanese hearing loss patients(国民健康保険を基にした日本人難聴患者における難聴原因遺伝子19遺伝子154変異のスクリーニング). 信州大学, 2017, 博士論文. | |||||
書誌情報 |
発行日 2017-02-08 |
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学位授与番号 | ||||||
学位授与番号 | 13601乙第1202号 | |||||
学位授与年月日 | ||||||
学位授与年月日 | 2017-02-08 | |||||
学位名 | ||||||
学位名 | 博士(医学) | |||||
学位授与機関 | ||||||
学位授与機関識別子Scheme | kakenhi | |||||
学位授与機関識別子 | 13601 | |||||
学位授与機関名 | 信州大学(Shinshu university) | |||||
学位の区分 | ||||||
doctoral | ||||||
学位の分野 | ||||||
医学 | ||||||
学位の報告番号 | ||||||
乙第1202号 | ||||||
内容記述 | ||||||
内容記述タイプ | Other | |||||
内容記述 | 雑誌に発表。PLOS ONE. 11(9):e0162230 (2016); doi:10.1371/journal.pone.0162230. | |||||
資源タイプ(コンテンツの種類) | ||||||
内容記述タイプ | Other | |||||
内容記述 | Thesis | |||||
PubMed | ||||||
識別子タイプ | PMID | |||||
関連識別子 | https://pubmed.ncbi.nlm.nih.gov/27627659/ | |||||
関連名称 | 27627659 | |||||
DOI | ||||||
識別子タイプ | DOI | |||||
関連識別子 | https://doi.org/10.1371/journal.pone.0162230 | |||||
関連名称 | 10.1371/journal.pone.0162230 | |||||
権利 | ||||||
権利情報 | © 2016 Mori et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. | |||||
出版タイプ | ||||||
出版タイプ | NA | |||||
出版タイプResource | http://purl.org/coar/version/c_be7fb7dd8ff6fe43 | |||||
WoS | ||||||
Web of Science | ||||||
URL | http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=ShinshuUniv&SrcApp=ShinshuUniv&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000383680600025 |