{"created":"2023-06-19T10:43:10.574527+00:00","id":3339,"links":{},"metadata":{"_buckets":{"deposit":"9e647905-4008-4354-b4c3-9ca4c2c2b56c"},"_deposit":{"created_by":11,"id":"3339","owners":[11],"pid":{"revision_id":0,"type":"depid","value":"3339"},"status":"published"},"_oai":{"id":"oai:shiga-med.repo.nii.ac.jp:00003339","sets":["30:50:193"]},"author_link":["3728","7432","7431","7429","2737","7428","7834","7430","7433"],"item_4_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2016-11","bibliographicIssueDateType":"Issued"},"bibliographicPageStart":"16018","bibliographicVolumeNumber":"3","bibliographic_titles":[{"bibliographic_title":"Human Genome Variation"}]}]},"item_4_creator_3":{"attribute_name":"著者別名","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"近藤, 寛之"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"松下, 五佳"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"永田, 竜朗"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"林, 孝彰"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"柿木, 雅志"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"内尾, 英一"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"近藤, 峰生"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"大路, 正人"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"日下, 俊次"}],"nameIdentifiers":[{},{}]}]},"item_4_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Stickler syndrome is an inherited connective tissue disorder that affects the eyes, cartilage and articular tissues. The phenotypes of Stickler syndrome include congenital high myopia, retinal detachment, premature joint degeneration, hearing impairment and craniofacial anomalies, such as cleft palate and midline facial hypoplasia. The disease is genetically heterogeneous, and the majority of the cases are caused by mutations in the COL2A1 gene. We examined 40 Japanese patients with Stickler syndrome from 23 families to determine whether they had mutations in the COL2A1 gene. This analysis was conducted by examining each patient's genomic DNA by Sanger sequencing. Five nonsense, 4 splicing and 8 deletion mutations in the COL2A1 gene were identified, accounting for 21 of the 23 families. Different mutations of the COL2A1 gene were associated with similar phenotypes but with different degrees of expressivity. ","subitem_description_type":"Abstract"}]},"item_4_description_42":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"subitem_description":"Journal Article","subitem_description_type":"Other"}]},"item_4_publisher_32":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"Nature Publishing Group"}]},"item_4_relation_10":{"attribute_name":"PubMed番号","attribute_value_mlt":[{"subitem_relation_type":"isIdenticalTo","subitem_relation_type_id":{"subitem_relation_type_id_text":"27408751","subitem_relation_type_select":"PMID"}}]},"item_4_relation_11":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_type":"isIdenticalTo","subitem_relation_type_id":{"subitem_relation_type_id_text":"10.1038/hgv.2016.18","subitem_relation_type_select":"DOI"}}]},"item_4_rights_12":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"©The Author(s) 2016　This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. "}]},"item_4_source_id_7":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"2054-345X","subitem_source_identifier_type":"ISSN"}]},"item_4_version_type_15":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"KONDO, Hiroyuki"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Matsushita, Itsuka"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Nagata, Tatsuo"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"Hayashi, Takaaki"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"KAKINOKI, Masashi"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"Uchio, Eiichi"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"Kondo, Mineo"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"OHJI, Masahito"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"Kusaka, Shunji"}],"nameIdentifiers":[{},{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2018-11-30"}],"displaytype":"detail","filename":"hgv.2016.18.pdf","filesize":[{"value":"235.7 kB"}],"format":"application/pdf","licensetype":"license_6","mimetype":"application/pdf","url":{"label":"hgv.2016.18.pdf","url":"https://shiga-med.repo.nii.ac.jp/record/3339/files/hgv.2016.18.pdf"},"version_id":"3c4d2cba-1f46-4f12-b75e-949665c5d166"}]},"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":"Novel mutations in the COL2A1 gene in Japanese patients with Stickler syndrome.","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Novel mutations in the COL2A1 gene in Japanese patients with Stickler syndrome."}]},"item_type_id":"4","owner":"11","path":["193"],"pubdate":{"attribute_name":"公開日","attribute_value":"2018-11-30"},"publish_date":"2018-11-30","publish_status":"0","recid":"3339","relation_version_is_last":true,"title":["Novel mutations in the COL2A1 gene in Japanese patients with Stickler syndrome."],"weko_creator_id":"11","weko_shared_id":-1},"updated":"2023-06-19T12:21:18.748249+00:00"}