{"created":"2023-05-15T14:33:24.905880+00:00","id":43335,"links":{},"metadata":{"_buckets":{"deposit":"b6816bb1-fd0c-4f8f-aab1-9454ae6e68e8"},"_deposit":{"created_by":1,"id":"43335","owners":[1],"pid":{"revision_id":0,"type":"depid","value":"43335"},"status":"published"},"_oai":{"id":"oai:repo.qst.go.jp:00043335","sets":["1"]},"author_link":["431072","431073","431074"],"item_8_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2002-10","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"6","bibliographicPageEnd":"94","bibliographicPageStart":"89","bibliographicVolumeNumber":"38","bibliographic_titles":[{"bibliographic_title":"日本小児外科学会雑誌"}]}]},"item_8_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Beckwith-Wiedemann症候群（BWS)の２症例についてインプリント遺伝子の解析を行った。BWSはゲノムインプリンティングが関与している代表的な疾患の一つで、Wilms腫瘍を含む胎児性腫瘍を合併する。疾患遺伝子座である１１番染色体短腕15.5領域には、複数のインプリント遺伝子がクラスターを形成して存在し、BWSにおいて主にIGF2,H19,p57KIP2,LIT1のインプリント遺伝子の異常が報告されている。今回経験した２症例のうち１例にLIT1プロモーター領域にあるDMR−LIT1(differentially methylated region of LIT1)のメチル化異常を認めた。しかし、２症例ともIGF2の過剰発現の原因となるトリソミーや父性ダイソミー、H19上流DMRのメチル化異常は認められなかった。BWSの発症機序とゲノムインプリンティングについての考察を加え報告する。","subitem_description_type":"Abstract"}]},"item_8_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"0288-609X","subitem_source_identifier_type":"ISSN"}]},"item_access_right":{"attribute_name":"アクセス権","attribute_value_mlt":[{"subitem_access_right":"metadata only access","subitem_access_right_uri":"http://purl.org/coar/access_right/c_14cb"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"副島, 英伸"}],"nameIdentifiers":[{"nameIdentifier":"431072","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"岩川, 眞由美"}],"nameIdentifiers":[{"nameIdentifier":"431073","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"岩川 眞由美","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"431074","nameIdentifierScheme":"WEKO"}]}]},"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":"インプリント遺伝子の解析を行った Beckwith-Wiedemann 症候群の２例","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"インプリント遺伝子の解析を行った Beckwith-Wiedemann 症候群の２例"}]},"item_type_id":"8","owner":"1","path":["1"],"pubdate":{"attribute_name":"公開日","attribute_value":"2004-01-27"},"publish_date":"2004-01-27","publish_status":"0","recid":"43335","relation_version_is_last":true,"title":["インプリント遺伝子の解析を行った Beckwith-Wiedemann 症候群の２例"],"weko_creator_id":"1","weko_shared_id":-1},"updated":"2023-05-16T00:28:31.681975+00:00"}