{"created":"2021-03-01T06:17:08.096148+00:00","id":12828,"links":{},"metadata":{"_buckets":{"deposit":"4f63551d-ade6-4190-88e8-7df69dd1fb32"},"_deposit":{"id":"12828","owners":[],"pid":{"revision_id":0,"type":"depid","value":"12828"},"status":"published"},"_oai":{"id":"oai:niigata-u.repo.nii.ac.jp:00012828","sets":["453:456","471:537:538:1033"]},"item_7_alternative_title_1":{"attribute_name":"その他のタイトル","attribute_value_mlt":[{"subitem_alternative_title":"Analysis of the Causative Gene for Distal Myopathy with Rimmed Vacuoles and the Study for Its Pathomechanism"}]},"item_7_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2004-11","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"11","bibliographicPageEnd":"631","bibliographicPageStart":"622","bibliographicVolumeNumber":"118","bibliographic_titles":[{"bibliographic_title":"新潟医学会雑誌"},{"bibliographic_title":"新潟医学会雑誌","bibliographic_titleLang":"en"}]}]},"item_7_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Rimmed vacuole型遠位型ミオパチー(DMRV)は常染色体劣性遺伝形式の筋疾患であり,若年発症で下肢遠位筋から始まり全身性に筋力低下が及ぶものの,大腿四頭筋の筋力が末期まで保たれるという特徴的な筋障害分布を呈す.中東系ユダヤ人に多く報告されているhereditary inclusion body myopathy(HIBM)のallelic diseaseであり,筋病理組織学的にはGomori trichrome染色において縁取り空砲(rimmed vacuoles)を伴うことを特徴とする.近年,UDP-N acetylglucosamine 2-epimerase/N-acetvlmannosamine kinase(GNE)遺伝子がHIBMの原因遺伝子として特定された.GNEは第9染色体上に位置し,これまでに当教室は連鎖解析によりDMRVの原因遺伝子も9p1-q1に連鎖することを明らかにしてきた.私は連鎖解析に使用した家系を用いハプロタイプ解析と遺伝子変異解析を行い,日本人DMRV症例においては創始者効果を特つGNEの遺伝子変異が発症原因であることを特定した.さらに臨床的,筋病理組織学的にDMRVと診断した多数の日本人症例を集積し,臨床型と遺伝子型の対応について検討した.その結果,その多くが創始者効果を特つV572Lのホモ接合を呈すること,これらの症例では比較的均一な臨床経過を呈する傾向があることを明らかにした.GNEの筋における生理学的機能はいまだ不明であるため,その筋における発現および機能を検討し,筋細胞での発現が多いこと,培養細胞への強制発現により変異タンパクが凝集する傾向を呈すること,本症患者筋でrimmed vacuole形成線維では発現が低下していることを明らかした.","subitem_description_type":"Abstract"}]},"item_7_publisher_7":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"新潟医学会"}]},"item_7_select_19":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_select_item":"publisher"}]},"item_7_source_id_11":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AN00182415","subitem_source_identifier_type":"NCID"}]},"item_7_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"00290440","subitem_source_identifier_type":"ISSN"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"新井, 亜希"}],"nameIdentifiers":[{"nameIdentifier":"85133","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":"2019-08-07"}],"displaytype":"detail","filename":"KJ00004300784.pdf","filesize":[{"value":"1.4 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"KJ00004300784.pdf","url":"https://niigata-u.repo.nii.ac.jp/record/12828/files/KJ00004300784.pdf"},"version_id":"6d38dee4-e083-436f-ab33-6c00f38b267b"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"jpn"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"departmental bulletin paper","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"Rimmed vacuole型遠位型ミオパチーの原因遺伝子同定と病態機序解明に関する研究","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Rimmed vacuole型遠位型ミオパチーの原因遺伝子同定と病態機序解明に関する研究"},{"subitem_title":"Rimmed vacuole型遠位型ミオパチーの原因遺伝子同定と病態機序解明に関する研究","subitem_title_language":"en"}]},"item_type_id":"7","owner":"1","path":["456","1033"],"pubdate":{"attribute_name":"公開日","attribute_value":"2007-05-10"},"publish_date":"2007-05-10","publish_status":"0","recid":"12828","relation_version_is_last":true,"title":["Rimmed vacuole型遠位型ミオパチーの原因遺伝子同定と病態機序解明に関する研究"],"weko_creator_id":"1","weko_shared_id":null},"updated":"2022-12-15T03:45:32.133567+00:00"}