{"created":"2023-05-15T11:52:01.112331+00:00","links":{},"metadata":{"_buckets":{"deposit":"59bb8ba6-21d1-4bb0-9e6e-84c02495ea62"},"_deposit":{"id":"1524.1","owners":[2],"pid":{"revision_id":0,"type":"depid","value":"1524.1"},"status":"published"},"_oai":{"id":"oai:miyazaki-u.repo.nii.ac.jp:00001524.1","sets":["72:30"]},"author_link":["8738"],"item_10004_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2009-11-20","bibliographicIssueDateType":"Issued"},"bibliographicPageEnd":"101","bibliographicPageStart":"96","bibliographicVolumeNumber":"15","bibliographic_titles":[{"bibliographic_title":"遺伝子医学mook","bibliographic_titleLang":"ja"}]}]},"item_10004_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"筋強直性ジストロフィータイプ1(DM1)はDMPK (dystrophia myotonica protein kinase) 遺伝子の3'非翻訳領域に存在するCTGの3塩基繰り返し配列が異常伸長するトリプレット病の1つである。本症ではDMPK遺伝子転写産物のCUGリピートに特定のスプライシング制御因子がトラップされ、本来のスプライシング制御が撹乱されることで筋症状を含む種々の全身症状を引き起こす。本稿ではDM1の発症機序と、DM1患者から見出された sarcoplasmic/endoplasmic reticulum Ca2+-ATPase 1 (SERCA1) mRNA の異常スプライシングの分子機構について紹介する。","subitem_description_language":"ja","subitem_description_type":"Abstract"}]},"item_10004_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"メディカルドゥ","subitem_publisher_language":"ja"}]},"item_10004_source_id_11":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AA12005335","subitem_source_identifier_type":"NCID"}]},"item_10004_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"13492527","subitem_source_identifier_type":"ISSN"}]},"item_10004_version_type_20":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"今泉, 和則","creatorNameLang":"ja"},{"creatorName":"イマイズミ, カズノリ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{"nameIdentifier":"8738","nameIdentifierScheme":"WEKO"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2020-06-21"}],"displaytype":"detail","filename":"imaizumi-gene-mook15-200911.pdf","filesize":[{"value":"939.5 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"imaizumi-gene-mook15-200911.pdf","url":"https://miyazaki-u.repo.nii.ac.jp/record/1524.1/files/imaizumi-gene-mook15-200911.pdf"},"version_id":"ad671119-a2ca-42c7-ae84-117ecfee1102"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"選択的スプライシング, 筋強直性ジストロフィー, トリプレット病, 表現促進現象, sarcoplasmic/endoplasmic reticulum ca2+-ATPase 1 (SERCA1), ミニジーン, CTGリピート, CUGリピート, muscleblind, MBNL","subitem_subject_language":"ja","subitem_subject_scheme":"Other"}]},"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":"article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"筋強直性ジストロフィーと異常スプライシング","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"筋強直性ジストロフィーと異常スプライシング","subitem_title_language":"ja"}]},"item_type_id":"10004","owner":"2","path":["30"],"pubdate":{"attribute_name":"公開日","attribute_value":"2009-12-02"},"publish_date":"2009-12-02","publish_status":"0","recid":"1524.1","relation_version_is_last":true,"title":["筋強直性ジストロフィーと異常スプライシング"],"weko_creator_id":"2","weko_shared_id":2},"updated":"2025-06-01T23:47:14.666471+00:00"}