{"created":"2023-07-27T06:51:15.425724+00:00","id":44610,"links":{},"metadata":{"_buckets":{"deposit":"e1b42d0d-c5e3-4a3f-b9c6-0115b0f9d677"},"_deposit":{"created_by":18,"id":"44610","owners":[18],"pid":{"revision_id":0,"type":"depid","value":"44610"},"status":"published"},"_oai":{"id":"oai:kanazawa-u.repo.nii.ac.jp:00044610","sets":["2812:2813:2819"]},"author_link":["76698","333"],"item_9_biblio_info_8":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2015-06-15","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 基盤研究(C) 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":"PCSK9はLDL受容体分解を促進し、その機能亢進型変異は家族性高コレステロール血症（FH）の原因となる。われわれが見出したE32K変異を導入したHepG2細胞は野生型に比しPCSK9を39%過剰に分泌し機能亢進変異と考えられた。LDL受容体変異にPCSK9E32K変異を合併した症例を9例見出したが、そのLDLコレステロール値は195から581mg/dLと広く分布し、重症例は著明な腱黄色腫を合併しホモFH類似の病態を呈していた。FHの臨床像の重症化には何らかの追加の遺伝的因子の存在が示唆された。","subitem_description_type":"Abstract"},{"subitem_description":"A gain-of-function mutation of proprotein convertase subtilisin/kexin type9 (PCSK9) gene results in familial hypercholesterolemia (FH) through degeneration of hepatic low-density lipoprotein (LDL) receptor. PCSK9 E32K is considered as gain-of-function mutation because HepG2 cells transient transfected PCSK9 E32K plasmid secretes 139% of PCSK9 protein compared with wild type. We found 9 patient with double heterozygous of LDL receptor gene mutation and PCSK9 E32K mutation, and their LDL-cholesterol levels ranged from 195 to 581 mg/dL. The most severe case was accompanied with large tendon xanthoma resembling homozygous FH as well as extreme hypercholesterolemia. These findings suggest that some additive hereditary factors are needed to exacerbate clinical features of PCSK9 E32K carriers.","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:24591041, 研究期間(年度):2012-04-01 - 2015-03-31","subitem_description_type":"Other"},{"subitem_description":"出典：研究課題「家族性高コレステロール血症の新規原因遺伝子が臨床像と生命予後に与える影響」課題番号24591041\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-24591041/24591041seika/）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":"10.24517/00050951","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=90345637"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/search/?qm=90345637","subitem_relation_type_select":"URI"}},{"subitem_relation_name":[{"subitem_relation_name_text":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-24591041/"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-24591041/","subitem_relation_type_select":"URI"}},{"subitem_relation_name":[{"subitem_relation_name_text":"https://kaken.nii.ac.jp/report/KAKENHI-PROJECT-24591041/24591041seika/"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/report/KAKENHI-PROJECT-24591041/24591041seika/","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":"2018-06-04"}],"displaytype":"detail","filename":"ME-PR-KAWASHIRI-M-kaken 2015-6p.pdf","filesize":[{"value":"116.1 kB"}],"format":"application/pdf","licensetype":"license_11","mimetype":"application/pdf","url":{"label":"ME-PR-KAWASHIRI-M-kaken 2015-6p.pdf","url":"https://kanazawa-u.repo.nii.ac.jp/record/44610/files/ME-PR-KAWASHIRI-M-kaken 2015-6p.pdf"},"version_id":"f93c2534-dbd1-4264-81d6-a0b517f8c495"}]},"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":"家族性高コレステロール血症の新規原因遺伝子が臨床像と生命予後に与える影響","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"家族性高コレステロール血症の新規原因遺伝子が臨床像と生命予後に与える影響"},{"subitem_title":"Impact of novel causal gene mutation of familial hypercholesterolemia on its clinical features and prognosis","subitem_title_language":"en"}]},"item_type_id":"9","owner":"18","path":["2819"],"pubdate":{"attribute_name":"公開日","attribute_value":"2018-06-04"},"publish_date":"2018-06-04","publish_status":"0","recid":"44610","relation_version_is_last":true,"title":["家族性高コレステロール血症の新規原因遺伝子が臨床像と生命予後に与える影響"],"weko_creator_id":"18","weko_shared_id":-1},"updated":"2023-07-27T10:43:35.546872+00:00"}