{"created":"2023-07-27T06:31:52.829973+00:00","id":17471,"links":{},"metadata":{"_buckets":{"deposit":"f7a65727-eba4-43d0-8c2a-e546cea8d512"},"_deposit":{"created_by":3,"id":"17471","owners":[3],"pid":{"revision_id":0,"type":"depid","value":"17471"},"status":"published"},"_oai":{"id":"oai:kanazawa-u.repo.nii.ac.jp:00017471","sets":["1132:1137:1270:1352"]},"author_link":["21326"],"item_7_biblio_info_8":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"1996-12-01","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"6","bibliographicPageEnd":"787","bibliographicPageStart":"776","bibliographicVolumeNumber":"105","bibliographic_titles":[{"bibliographic_title":"金沢大学十全医学会雑誌"}]}]},"item_7_description_16":{"attribute_name":"その他の識別子","attribute_value_mlt":[{"subitem_description":"1997165868","subitem_description_type":"Other"}]},"item_7_description_21":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"1)家系1-症例1(8ヵ月女児),2(2歳9ヵ月男児,症例1の兄)では母由来の変異対立遺伝子において点突然変異があり,このため変異対立遺伝子由来のmRNAではエキソン7と8の間にGCAGの4塩基の挿入が認められた.変異由来のFasレセプターは細胞内部分がなく異常な3量体を形成するため,ドミナントネガティブ効果により細胞死に至るシグナルが伝達されないと考えた. 2)家系2-症例3(1歳女児)ではイントロン3に点突然変異があるためエキソン4のスキップが認められた.両親がいとこ婚で変異対立遺伝子のホモ接合体となっていたためFasレセプターそのものの発現が全く欠如し細胞死に至るシグナルが伝達されないと考えた. 5)患児ではT細胞のFas誘導性アポトーシスが欠如しているほかAICDも減弱しているため,自己反応性T細胞が排除されず,自己寛容が破綻し様々な自己免疫状態が生じているものと考えた","subitem_description_type":"Abstract"}]},"item_7_description_5":{"attribute_name":"提供者所属","attribute_value_mlt":[{"subitem_description":"金沢大学 医 小児科","subitem_description_type":"Other"}]},"item_7_publisher_17":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"金沢大学十全医学会"}]},"item_7_source_id_11":{"attribute_name":"NCID","attribute_value_mlt":[{"subitem_source_identifier":"AN00044397","subitem_source_identifier_type":"NCID"}]},"item_7_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"0022-7226","subitem_source_identifier_type":"ISSN"}]},"item_7_version_type_25":{"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":"和田, 泰三"}],"nameIdentifiers":[{"nameIdentifier":"21326","nameIdentifierScheme":"WEKO"},{"nameIdentifier":"30313646","nameIdentifierScheme":"e-Rad","nameIdentifierURI":"https://kaken.nii.ac.jp/ja/search/?qm=30313646"},{"nameIdentifier":"30313646","nameIdentifierScheme":"金沢大学研究者情報","nameIdentifierURI":"http://ridb.kanazawa-u.ac.jp/public/detail.php?kaken=30313646"},{"nameIdentifier":"30313646","nameIdentifierScheme":"研究者番号","nameIdentifierURI":"https://nrid.nii.ac.jp/nrid/1000030313646"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2017-10-04"}],"displaytype":"detail","filename":"AN00044397-105-074.pdf","filesize":[{"value":"2.3 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"AN00044397-105-074.pdf","url":"https://kanazawa-u.repo.nii.ac.jp/record/17471/files/AN00044397-105-074.pdf"},"version_id":"54b4bf6c-ac29-4b4d-a357-ff9adc1d32be"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"自己免疫疾患","subitem_subject_scheme":"Other"},{"subitem_subject":"リンパ球","subitem_subject_scheme":"Other"},{"subitem_subject":"リンパ増殖性疾患(家族性・遺伝性)","subitem_subject_scheme":"Other"},{"subitem_subject":"アポトーシス","subitem_subject_scheme":"Other"},{"subitem_subject":"FasL Protein","subitem_subject_scheme":"Other"},{"subitem_subject":"ヒト","subitem_subject_scheme":"Other"},{"subitem_subject":"新生児","subitem_subject_scheme":"Other"},{"subitem_subject":"乳児(1～23ヶ月)","subitem_subject_scheme":"Other"},{"subitem_subject":"幼児(2～5)","subitem_subject_scheme":"Other"},{"subitem_subject":"男","subitem_subject_scheme":"Other"},{"subitem_subject":"女","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":"departmental bulletin paper","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"自己免疫性リンパ球増殖症候群2家系3症例におけるFasレセプター異常の解析","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"自己免疫性リンパ球増殖症候群2家系3症例におけるFasレセプター異常の解析"}]},"item_type_id":"7","owner":"3","path":["1352"],"pubdate":{"attribute_name":"公開日","attribute_value":"2017-10-04"},"publish_date":"2017-10-04","publish_status":"0","recid":"17471","relation_version_is_last":true,"title":["自己免疫性リンパ球増殖症候群2家系3症例におけるFasレセプター異常の解析"],"weko_creator_id":"3","weko_shared_id":-1},"updated":"2024-05-28T07:12:26.611768+00:00"}