{"created":"2023-07-27T06:51:02.688010+00:00","id":44293,"links":{},"metadata":{"_buckets":{"deposit":"761c4f0d-b2b6-467a-959b-16e53fb554da"},"_deposit":{"created_by":18,"id":"44293","owners":[18],"pid":{"revision_id":0,"type":"depid","value":"44293"},"status":"published"},"_oai":{"id":"oai:kanazawa-u.repo.nii.ac.jp:00044293","sets":["2812:2813:2817"]},"author_link":["74756","273"],"item_9_biblio_info_8":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2017-05-22","bibliographicIssueDateType":"Issued"},"bibliographicPageStart":"5p.","bibliographicVolumeNumber":"2014-04-01 - 2017-03-31","bibliographic_titles":[{"bibliographic_title":"平成28(2016)年度 科学研究費補助金 基盤研究(C) 研究成果報告書"},{"bibliographic_title":"2016 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":"研究期間中、77例の肥大型心筋症を登録した。臨床的に肥大型心筋症を発症した5例および非発症者2例を含む大家系において、次世代シーケンス（全エクソームシーケンス）を施行した。全エクソームシーケンスにより、60020の稀な塩基変異を検出した。それらの塩基変異について遺伝子型-臨床病型連関を解析することにより、疾患と関連のない塩基変異を除外することができ、最終的に13の候補塩基変異（遺伝子変異）を抽出できた。さらにCADD scoreとHHE遺伝子データを使用することにより、本家系における肥大型心筋症の病因は、ミオシン必須軽鎖遺伝子のp.Arg94Hisミスセンス変異であるとの結論に至った。","subitem_description_type":"Abstract"},{"subitem_description":"We could register 77 cases of hypertrophic cardiomyopathy (HCM). Whole exome sequencing (WES) was performed on seven relatives from a large HCM family with a clear HCM phenotype (five clinically affected and two unaffected) in our registry study. WES detected 60020 rare variants in the large HCM family. After genotype-phenotype matching, 13 putative variants remained. Using combined annotation dependent depletion (CADD) score and high heart expression (HHE) gene data, the number of candidates was reduced to one, a variant in the myosin essential light chain, p.Arg94His.","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:26460742, 研究期間(年度):2014-04-01 - 2017-03-31","subitem_description_type":"Other"},{"subitem_description":"出典：「肥大型心筋症全例登録による発症と予後に関与する要因および治療法解明に関する研究」研究成果報告書　課題番号26460742\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-26460742/26460742seika/）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保健学系","subitem_description_type":"Other"}]},"item_9_identifier_registration":{"attribute_name":"ID登録","attribute_value_mlt":[{"subitem_identifier_reg_text":"10.24517/00050635","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=40361993"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/search/?qm=40361993","subitem_relation_type_select":"URI"}},{"subitem_relation_name":[{"subitem_relation_name_text":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-26460742/"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-26460742/","subitem_relation_type_select":"URI"}},{"subitem_relation_name":[{"subitem_relation_name_text":"https://kaken.nii.ac.jp/report/KAKENHI-PROJECT-26460742/26460742seika/"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/report/KAKENHI-PROJECT-26460742/26460742seika/","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":"2018-04-26"}],"displaytype":"detail","filename":"ME-PR-FUJINO-N-kaken 2017-5p.pdf","filesize":[{"value":"592.2 kB"}],"format":"application/pdf","licensetype":"license_11","mimetype":"application/pdf","url":{"label":"ME-PR-FUJINO-N-kaken 2017-5p.pdf","url":"https://kanazawa-u.repo.nii.ac.jp/record/44293/files/ME-PR-FUJINO-N-kaken 2017-5p.pdf"},"version_id":"f6f5b996-3786-4cec-af69-f2903059ee8e"}]},"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":"肥大型心筋症全例登録による発症と予後に関与する要因および治療法解明に関する研究","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"肥大型心筋症全例登録による発症と予後に関与する要因および治療法解明に関する研究"},{"subitem_title":"Research of the factors to contribute to the onset and the prognosis of hypertrophic cardiomyopathy by the registration study","subitem_title_language":"en"}]},"item_type_id":"9","owner":"18","path":["2817"],"pubdate":{"attribute_name":"公開日","attribute_value":"2018-04-26"},"publish_date":"2018-04-26","publish_status":"0","recid":"44293","relation_version_is_last":true,"title":["肥大型心筋症全例登録による発症と予後に関与する要因および治療法解明に関する研究"],"weko_creator_id":"18","weko_shared_id":-1},"updated":"2023-07-27T11:36:23.005680+00:00"}