{"created":"2023-07-27T06:55:31.295020+00:00","id":51504,"links":{},"metadata":{"_buckets":{"deposit":"335eb5f0-79fb-4587-8734-2f3fadbd1d96"},"_deposit":{"created_by":18,"id":"51504","owners":[18],"pid":{"revision_id":0,"type":"depid","value":"51504"},"status":"published"},"_oai":{"id":"oai:kanazawa-u.repo.nii.ac.jp:00051504","sets":["2812:2813:4014"]},"author_link":["266","89042"],"item_9_biblio_info_8":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2021-06-17","bibliographicIssueDateType":"Issued"},"bibliographicPageStart":"12p.","bibliographicVolumeNumber":"2018-04-01 - 2021-03-31","bibliographic_titles":[{"bibliographic_title":"令和2(2020)年度 科学研究費補助金 基盤研究(C) 研究成果報告書"},{"bibliographic_title":"2020 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":"遺伝性不整脈は心臓突然死の原因として重要な疾患であり、その病態を把握し、これを未然に防ぐことが重要である。我々は、遺伝性不整脈であるQT延長症候群66症例、ブルガダ症候群32症例、先天性徐脈32症例、不整脈原性右室心筋症17症例、孤立性心房細動6症例に対して網羅的遺伝子解析を行った。このうち、先天性徐脈23症例に対して全エクソン解析を行い、見いだされた稀なバリアントに対し、家族解析および機能解析を行った。ACMGガイドラインを用いて病的意義を決定したところ、12 個のpathogenic あるいは likely pathogenic variantsを 11症例(48%)に見出した。","subitem_description_type":"Abstract"},{"subitem_description":"Inherited arrhythmia can cause sudden cardiac death. It is important to determine the underlying mechanism and prevent the sudden cardiac death. We performed candidate gene analysis or whole exome sequence for inherited arrhythmia including long QT syndrome (n=66) Brugada syndrome (n=32), inherited bradyarrhythmia (n=32), arrhythmogenic right ventricular cardiomyopathy (n=17), and lone atrial fibrillation (n=6) using a next generation sequencer. We performed whole exome sequence of 23 probands diagnosed with early-onset (<65 years) inherited bradyarrhythmia and analysed 117 genes linked to arrhythmogenic diseases or cardiomyopathies. Of 23 inherited bradyarrhythmia probands, we successfully identified pathogenic or likely pathogenic variants in 11 probands (48%).","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:18K08100, 研究期間(年度):2018-04-01 - 2021-03-31","subitem_description_type":"Other"},{"subitem_description":"出典：「遺伝性不整脈の新規原因遺伝子の同定と不整脈発症機序の解明および有効治療薬の決定」研究成果報告書　課題番号18K08100\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/report/KAKENHI-PROJECT-18K08100/18K08100seika/）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":"金沢大学附属病院検査部","subitem_description_type":"Other"}]},"item_9_identifier_registration":{"attribute_name":"ID登録","attribute_value_mlt":[{"subitem_identifier_reg_text":"10.24517/00057807","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/search/?qm=00422642"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/search/?qm=00422642","subitem_relation_type_select":"URI"}},{"subitem_relation_name":[{"subitem_relation_name_text":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-18K08100/"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-18K08100/","subitem_relation_type_select":"URI"}},{"subitem_relation_name":[{"subitem_relation_name_text":"https://kaken.nii.ac.jp/report/KAKENHI-PROJECT-18K08100/18K08100seika/"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/report/KAKENHI-PROJECT-18K08100/18K08100seika/","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":"2022-02-17"}],"displaytype":"detail","filename":"ME-PR-HAYASHI-K-kaken 2021-12p.pdf","filesize":[{"value":"101.6 kB"}],"format":"application/pdf","licensetype":"license_11","mimetype":"application/pdf","url":{"label":"ME-PR-HAYASHI-K-kaken 2021-12p.pdf","url":"https://kanazawa-u.repo.nii.ac.jp/record/51504/files/ME-PR-HAYASHI-K-kaken 2021-12p.pdf"},"version_id":"99349ccd-d810-41fe-acd7-f35ede463009"}]},"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":"遺伝性不整脈の新規原因遺伝子の同定と不整脈発症機序の解明および有効治療薬の決定","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"遺伝性不整脈の新規原因遺伝子の同定と不整脈発症機序の解明および有効治療薬の決定"},{"subitem_title":"Gene analysis for novel causative mutations in an inherited arrhythmia and determination of the underlying mechanism of arrhythmia","subitem_title_language":"en"}]},"item_type_id":"9","owner":"18","path":["4014"],"pubdate":{"attribute_name":"公開日","attribute_value":"2022-02-17"},"publish_date":"2022-02-17","publish_status":"0","recid":"51504","relation_version_is_last":true,"title":["遺伝性不整脈の新規原因遺伝子の同定と不整脈発症機序の解明および有効治療薬の決定"],"weko_creator_id":"18","weko_shared_id":-1},"updated":"2023-07-27T13:50:48.870938+00:00"}