{"created":"2023-05-15T09:03:35.466349+00:00","id":7954,"links":{},"metadata":{"_buckets":{"deposit":"6c14b53b-9949-4375-adf4-87982e43b7b8"},"_deposit":{"created_by":15,"id":"7954","owners":[15],"pid":{"revision_id":0,"type":"depid","value":"7954"},"status":"published"},"_oai":{"id":"oai:sapmed.repo.nii.ac.jp:00007954","sets":["1674:1675:1676"]},"author_link":["5658"],"item_2_alternative_title_18":{"attribute_name":"その他のタイトル","attribute_value_mlt":[{"subitem_alternative_title":"Functional Significance of MeCP2 Mutations in Patients with Rett Syndrome"}]},"item_2_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2002-11-29","bibliographicIssueDateType":"Issued"},"bibliographicPageEnd":"104","bibliographicPageStart":"104","bibliographicVolumeNumber":"52","bibliographic_titles":[{"bibliographic_title":"北海道立衛生研究所報 = Report of the Hokkaido Institute of Public Health"}]}]},"item_2_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Rett症候群の患者の約8割にMeCP2の変異が見つかっている。こうした変異によるMeCP2機能への影響を知るための遺伝子導入発現系を用いた機能解析法を概説した。転写抑制機能への影響は、Drosophila細胞に変異蛋白質を発現して同時に導入したレポーター遺伝子の転写活性を測定することで解析し、ヘテロクロマチン親和性に対する影響は、蛍光標識した変異蛋白質をマウス細胞で発現してメチル化CpGに富むヘテロクロマチンへの集積性から判定する方法である。これら二つの方法で得られた変異の影響は、GenotypeとPhenotypeとの関係を理解する上で有用であることが明らかとなった。","subitem_description_type":"Abstract"}]},"item_2_publisher_32":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"北海道立衛生研究所"}]},"item_2_source_id_7":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"0441-0793","subitem_source_identifier_type":"ISSN"}]},"item_2_version_type_15":{"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":"工藤, 伸一"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2018-07-21"}],"displaytype":"detail","filename":"n0441079352103.pdf","filesize":[{"value":"1.5 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"n0441079352103.pdf","url":"https://sapmed.repo.nii.ac.jp/record/7954/files/n0441079352103.pdf"},"version_id":"3ca61933-9530-405f-9927-f6d516cac07b"}]},"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":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"Rett症候群変異のMeCP2機能への影響","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Rett症候群変異のMeCP2機能への影響","subitem_title_language":"ja"}]},"item_type_id":"2","owner":"15","path":["1676"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2009-03-23"},"publish_date":"2009-03-23","publish_status":"0","recid":"7954","relation_version_is_last":true,"title":["Rett症候群変異のMeCP2機能への影響"],"weko_creator_id":"15","weko_shared_id":-1},"updated":"2023-12-13T04:39:46.725122+00:00"}