{"created":"2023-07-27T06:56:10.755760+00:00","id":52866,"links":{},"metadata":{"_buckets":{"deposit":"7895b91d-7049-40df-b42c-b583d4349fdb"},"_deposit":{"created_by":18,"id":"52866","owners":[18],"pid":{"revision_id":0,"type":"depid","value":"52866"},"status":"published"},"_oai":{"id":"oai:kanazawa-u.repo.nii.ac.jp:00052866","sets":["2812:2813:2819"]},"author_link":["72542","20207"],"item_9_biblio_info_8":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2015-06-18","bibliographicIssueDateType":"Issued"},"bibliographicPageStart":"6p.","bibliographicVolumeNumber":"2012-04-01 – 2015-03-31","bibliographic_titles":[{"bibliographic_title":"平成26(2014)年度 科学研究費補助金 若手研究(B) 研究成果報告書"},{"bibliographic_title":"2014 Fiscal Year Final Research Report","bibliographic_titleLang":"en"}]}]},"item_9_creator_33":{"attribute_name":"著者別表示","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{}],"nameIdentifiers":[{},{},{},{}]}]},"item_9_description_21":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"心臓特異的ミオシン軽鎖キナーゼ（cMLCK）変異が心筋症の原因か否かは不明であった。我々は、肥大型心筋症1例においてミスセンス変異を、拡張型心筋症1例において欠失変異を同定した。キナーゼアッセイにおいて、ミスセンス変異型cMLCKは野生型と比較して活性亢進を、欠失変異型は著しい活性低下を呈した。変異の同定された家系においてエクソームシーケンスを行ったが、既知の心筋症遺伝子変異は検出されなかった。キナーゼ活性亢進型cMLCK変異は肥大型心筋症を、一方失活型変異は拡張型心筋症の原因となり得ることが示唆された。","subitem_description_type":"Abstract"},{"subitem_description":"Recently, cardiac myosin light chain kinase (cMLCK) was cloned from the myocardia of patients with heart failure, although it is unknown whether mutations in cMLCK gene (MYLK3) causes cardiomyopathies. We identified a missense and deletion variant in hypertrophic cardiomyopathy (HCM) and in dilated cardiomyopathy (DCM), respectively. In vitro kinase assay demonstrated enhanced kinase activity in the missense mutant protein, while diminished activity in deletion mutant protein. Whole exome sequencing showed absence of known DCM causing mutations in pedigrees harboring the mutation. These findings suggest that enhanced cMLCK activity may cause HCM, while declined cMLCK activity may cause DCM. Our data will provide the new insights into mechanisms responsible for cardiomyopathies.","subitem_description_type":"Abstract"}]},"item_9_description_22":{"attribute_name":"内容記述","attribute_value_mlt":[{"subitem_description":"研究課題/領域番号:24790748, 研究期間(年度):2012-04-01 – 2015-03-31","subitem_description_type":"Other"},{"subitem_description":"出典：研究課題「心筋ミオシン軽鎖キナーゼ変異による新しい心筋症発症機序の解明」課題番号24790748\n（KAKEN：科学研究費助成事業データベース（国立情報学研究所））\n（https://kaken.nii.ac.jp/ja/report/KAKENHI-PROJECT-24790748/24790748seika/）を加工して作成","subitem_description_type":"Other"}]},"item_9_description_5":{"attribute_name":"提供者所属","attribute_value_mlt":[{"subitem_description":"金沢大学医薬保健研究域医学系","subitem_description_type":"Other"}]},"item_9_identifier_registration":{"attribute_name":"ID登録","attribute_value_mlt":[{"subitem_identifier_reg_text":"10.24517/00059159","subitem_identifier_reg_type":"JaLC"}]},"item_9_relation_28":{"attribute_name":"関連URI","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"https://kaken.nii.ac.jp/ja/search/?kw=50377389"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/ja/search/?kw=50377389","subitem_relation_type_select":"URI"}},{"subitem_relation_name":[{"subitem_relation_name_text":"https://kaken.nii.ac.jp/ja/grant/KAKENHI-PROJECT-24790748/"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/ja/grant/KAKENHI-PROJECT-24790748/","subitem_relation_type_select":"URI"}},{"subitem_relation_name":[{"subitem_relation_name_text":"https://kaken.nii.ac.jp/ja/report/KAKENHI-PROJECT-24790748/24790748seika/"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/ja/report/KAKENHI-PROJECT-24790748/24790748seika/","subitem_relation_type_select":"URI"}}]},"item_9_version_type_25":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_ab4af688f83e57aa","subitem_version_type":"AM"}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2020-11-02"}],"displaytype":"detail","filename":"ME-PR-KONNO-T-kaken 2015-6p.pdf","filesize":[{"value":"144.4 kB"}],"format":"application/pdf","licensetype":"license_11","mimetype":"application/pdf","url":{"label":"ME-PR-KONNO-T-kaken 2015-6p.pdf","url":"https://kanazawa-u.repo.nii.ac.jp/record/52866/files/ME-PR-KONNO-T-kaken 2015-6p.pdf"},"version_id":"f41f3677-06ae-4348-a2eb-1fc4d8841113"}]},"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":"research report","resourceuri":"http://purl.org/coar/resource_type/c_18ws"}]},"item_title":"心筋ミオシン軽鎖キナーゼ変異による新しい心筋症発症機序の解明","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"心筋ミオシン軽鎖キナーゼ変異による新しい心筋症発症機序の解明"},{"subitem_title":"Cardiac Myosin Light Chain Kinase Mutation as a Cause of Cardiomyopathies","subitem_title_language":"en"}]},"item_type_id":"9","owner":"18","path":["2819"],"pubdate":{"attribute_name":"公開日","attribute_value":"2020-11-02"},"publish_date":"2020-11-02","publish_status":"0","recid":"52866","relation_version_is_last":true,"title":["心筋ミオシン軽鎖キナーゼ変異による新しい心筋症発症機序の解明"],"weko_creator_id":"18","weko_shared_id":-1},"updated":"2023-07-27T10:41:19.152943+00:00"}