WEKO3
アイテム
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POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss(次世代シーケンサーにより見出された日本人難聴患者におけるPOU4F3遺伝子変異). 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甲第1106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=000401487700059"}]}, "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": "28545070"}], "subitem_relation_type_id": {"subitem_relation_type_id_text": "https://pubmed.ncbi.nlm.nih.gov/28545070/", "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.0177636"}], "subitem_relation_type_id": {"subitem_relation_type_id_text": "https://doi.org/10.1371/journal.pone.0177636", "subitem_relation_type_select": "DOI"}}]}, "item_14_rights_69": {"attribute_name": "権利", "attribute_value_mlt": [{"subitem_rights": "© 2017 Kitano 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. / Kitano T, Miyagawa M, Nishio S-y, Moteki H, Oda K, Ohyama K, et al. (2017) POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss. PLoS ONE 12(5): e0177636. https://doi.org/10.1371/journal.pone.0177636"}]}, "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1106号"}]}, "item_14_text_77": {"attribute_name": "wosonly keywords", "attribute_value_mlt": [{"subitem_text_value": "TRANSCRIPTION FACTOR; MISSENSE MUTATIONS; GENETIC-VARIANTS; DEAFNESS GENES; FAMILY; DFNA15; LOCALIZATION; IMPAIRMENT; EXPRESSION; GENOMICS"}]}, "item_14_textarea_75": {"attribute_name": "wosonly abstract", "attribute_value_mlt": [{"subitem_textarea_value": "A variant in a transcription factor gene, POU4F3, is responsible for autosomal dominant nonsyndromic hereditary hearing loss, DFNA15. To date, 14 variants, including a whole deletion of POU4F3, have been reported to cause HL in various ethnic groups. In the present study, genetic screening for POU4F3 variants was carried out for a large series of Japanese hearing loss (HL) patients to clarify the prevalence and clinical characteristics of DFNA15 in the Japanese population. Massively parallel DNA sequencing of 68 target candidate genes was utilized in 2,549 unrelated Japanese HL patients (probands) to identify genomic variations responsible for HL. The detailed clinical features in patients with POU4F3 variants were collected from medical charts and analyzed. Novel 12 POU4F3 likely pathogenic variants (six missense variants, three frameshift variants, and three nonsense variants) were successfully identified in 15 probands (2.5%) among 602 families exhibiting autosomal dominant HL, whereas no variants were detected in the other 1,947 probands with autosomal recessive or inheritance pattern unknown HL. To obtain the audiovestibular configuration of the patients harboring POU4F3 variants, we collected audiograms and vestibular symptoms of the probands and their affected family members. Audiovestibular phenotypes in a total of 24 individuals from the 15 families possessing variants were characterized by progressive HL, with a large variation in the onset age and severity with or without vestibular symptoms observed. Pure-tone audiograms indicated the most prevalent configuration as mid-frequency HL type followed by high-frequency HL type, with asymmetry observed in approximately 20% of affected individuals. Analysis of the relationship between age and pure-tone average suggested that individuals with truncating variants showed earlier onset and slower progression of HL than did those with non-truncating variants. The present study showed that variants in POU4F3 were a common cause of autosomal dominant HL."}]}, "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": "北野, 友裕", "creatorNameLang": "ja"}], "nameIdentifiers": [{"nameIdentifier": "105904", "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": "2018-06-28"}], "displaytype": "detail", "download_preview_message": "", "file_order": 0, "filename": "13MH013D_yoshi.pdf", "filesize": [{"value": "129.3 kB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_note", "mimetype": "application/pdf", "size": 129300.00000000001, "url": {"label": "内容の要旨", "url": "https://soar-ir.repo.nii.ac.jp/record/19951/files/13MH013D_yoshi.pdf"}, "version_id": "24bf4648-a1bb-4637-a9b3-9e7649fcf13c"}, {"accessrole": "open_date", "date": [{"dateType": "Available", "dateValue": "2018-06-28"}], "displaytype": "detail", "download_preview_message": "", "file_order": 1, "filename": "13MH013D_shinsa.pdf", "filesize": [{"value": "93.7 kB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_note", "mimetype": "application/pdf", "size": 93700.0, "url": {"label": "審査結果の要旨", "url": "https://soar-ir.repo.nii.ac.jp/record/19951/files/13MH013D_shinsa.pdf"}, "version_id": "29fcf329-6699-4184-985e-2c56e2c86035"}, {"accessrole": "open_date", "date": [{"dateType": "Available", "dateValue": "2018-06-28"}], "displaytype": "detail", "download_preview_message": "", "file_order": 2, "filename": "13MH013D_ronbun.pdf", "filesize": [{"value": "1.7 MB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensefree": "© 2017 Kitano et al. 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POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss(次世代シーケンサーにより見出された日本人難聴患者におけるPOU4F3遺伝子変異)
http://hdl.handle.net/10091/00020712
http://hdl.handle.net/10091/0002071204c0924c-4ecc-4825-9d83-8d4bf66a3818
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内容の要旨 (129.3 kB)
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審査結果の要旨 (93.7 kB)
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博士論文の全文 (1.7 MB)
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Item type | 学位論文 / Thesis or Dissertation(1) | |||||
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公開日 | 2018-06-28 | |||||
タイトル | ||||||
言語 | en | |||||
タイトル | POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss(次世代シーケンサーにより見出された日本人難聴患者におけるPOU4F3遺伝子変異) | |||||
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 |
北野, 友裕
× 北野, 友裕 |
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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 | 北野 友裕. POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss(次世代シーケンサーにより見出された日本人難聴患者におけるPOU4F3遺伝子変異). 信州大学, 2017, 博士論文. | |||||
書誌情報 |
発行日 2017-03-31 |
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学位授与番号 | ||||||
学位授与番号 | 13601甲第1106号 | |||||
学位授与年月日 | ||||||
学位授与年月日 | 2017-03-31 | |||||
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 | ||||||
甲第1106号 | ||||||
内容記述 | ||||||
内容記述タイプ | Other | |||||
内容記述 | 雑誌に発表。PLOS ONE. 12(5):e0177636 (2017); doi:10.1371/journal.pone.0177636. | |||||
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/28545070/ | |||||
関連名称 | 28545070 | |||||
DOI | ||||||
識別子タイプ | DOI | |||||
関連識別子 | https://doi.org/10.1371/journal.pone.0177636 | |||||
関連名称 | 10.1371/journal.pone.0177636 | |||||
権利 | ||||||
権利情報 | © 2017 Kitano 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. / Kitano T, Miyagawa M, Nishio S-y, Moteki H, Oda K, Ohyama K, et al. (2017) POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss. PLoS ONE 12(5): e0177636. https://doi.org/10.1371/journal.pone.0177636 | |||||
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=000401487700059 |