{"created":"2023-07-27T06:51:15.380130+00:00","id":44609,"links":{},"metadata":{"_buckets":{"deposit":"061624d9-05f5-4b3e-a9e8-af63ddac16f0"},"_deposit":{"created_by":18,"id":"44609","owners":[18],"pid":{"revision_id":0,"type":"depid","value":"44609"},"status":"published"},"_oai":{"id":"oai:kanazawa-u.repo.nii.ac.jp:00044609","sets":["2812:2813:2815"]},"author_link":["76698","333"],"item_9_biblio_info_8":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2019-05-26","bibliographicIssueDateType":"Issued"},"bibliographicPageStart":"6p.","bibliographicVolumeNumber":"2015-04-01 - 2019-03-31","bibliographic_titles":[{"bibliographic_title":"平成30(2018)年度 科学研究費補助金 基盤研究(C) 研究成果報告書"},{"bibliographic_title":"2018 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":"著明な低HDLコレステロール血症2例（2mg/dL、6mg/dL）および高HDLコレステロール血症1例（170mg/dL）の原因遺伝子を全エクソームシーケンス法で解析した。前者はいずれもABCA1遺伝子異常のコンパウドヘテロ接合体（c.6230C>A/c.6137G>A、c.2842G>A/c.1130C>T）であった。後者の原因遺伝子として分子Xが候補と考えられた。同遺伝子をHEK293細胞に導入し、コレステロール引き抜き能を検討したがコントロールと有意差を認めなかった。本例の高HDLコレステロール血症はコレステロール引き抜き能亢進が原因ではない可能性が考えられた。 ","subitem_description_type":"Abstract"},{"subitem_description":"The causal genes of 2 cases with extreme hypo-HDL-cholesterolemia (2mg/dL, 6mg/dL) and single case with extreme hyper-HDL-cholesterolemia (170mg/dL) were analyzed by whole exome sequencing. The causes of both of hypo-HDL-cholesterolemia were compound heterozygosity of ABCA1 gene (c.6230C>A/c.6137G>A and c.2842G>A/c.1130C>T). The potential causal gene of the extreme hyper-HDL-cholesterolemia supposed to be \"molecule X\". The gene was introduced into HEK293 cells. The cholesterol efflux capacity of \"molecule X\" was not different from that of controls, which suggested the hyper-HDL-cholesterolemia of this index case was not due to increased cholesterol efflux capacity. ","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:15K09118, 研究期間(年度):2015-04-01 - 2019-03-31","subitem_description_type":"Other"},{"subitem_description":"出典：研究課題「エクソームシーケンスを用いた新規高比重リポ蛋白代謝制御因子の発見とその機能解析」課題番号15K09118\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-15K09118/15K09118seika/）を加工して作成","subitem_description_type":"Other"}]},"item_9_identifier_registration":{"attribute_name":"ID登録","attribute_value_mlt":[{"subitem_identifier_reg_text":"10.24517/00050950","subitem_identifier_reg_type":"JaLC"}]},"item_9_publisher_17":{"attribute_name":"公開者","attribute_value_mlt":[{"subitem_publisher":"金沢大学医薬保健研究域医学系"}]},"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-15K09118/"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-15K09118/","subitem_relation_type_select":"URI"}},{"subitem_relation_name":[{"subitem_relation_name_text":"https://kaken.nii.ac.jp/report/KAKENHI-PROJECT-15K09118/15K09118seika/"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/report/KAKENHI-PROJECT-15K09118/15K09118seika/","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":"2020-04-24"}],"displaytype":"detail","filename":"ME-PR-KAWASHIRI-M-kaken 2019-6p.pdf","filesize":[{"value":"197.5 kB"}],"format":"application/pdf","licensetype":"license_11","mimetype":"application/pdf","url":{"label":"ME-PR-KAWASHIRI-M-kaken 2019-6p.pdf","url":"https://kanazawa-u.repo.nii.ac.jp/record/44609/files/ME-PR-KAWASHIRI-M-kaken 2019-6p.pdf"},"version_id":"39480f5f-3775-477b-875b-3253d49bd203"}]},"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":"エクソームシーケンスを用いた新規高比重リポ蛋白代謝制御因子の発見とその機能解析","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"エクソームシーケンスを用いた新規高比重リポ蛋白代謝制御因子の発見とその機能解析"},{"subitem_title":"Discovery and mechanistic analysis of a novel molecule associated with high-density lipoprotein metabolism using whole exome sequencing","subitem_title_language":"en"}]},"item_type_id":"9","owner":"18","path":["2815"],"pubdate":{"attribute_name":"公開日","attribute_value":"2020-04-24"},"publish_date":"2020-04-24","publish_status":"0","recid":"44609","relation_version_is_last":true,"title":["エクソームシーケンスを用いた新規高比重リポ蛋白代謝制御因子の発見とその機能解析"],"weko_creator_id":"18","weko_shared_id":-1},"updated":"2023-07-27T13:35:40.361660+00:00"}