{"created":"2023-07-27T06:31:40.104302+00:00","id":17175,"links":{},"metadata":{"_buckets":{"deposit":"7e8cc968-ca91-45b7-b8d0-088998c01ff9"},"_deposit":{"created_by":3,"id":"17175","owners":[3],"pid":{"revision_id":0,"type":"depid","value":"17175"},"status":"published"},"_oai":{"id":"oai:kanazawa-u.repo.nii.ac.jp:00017175","sets":["1132:1137:1270:1325"]},"author_link":["30856"],"item_7_biblio_info_8":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2002-02-01","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageEnd":"34","bibliographicPageStart":"20","bibliographicVolumeNumber":"111","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":"2002230334","subitem_description_type":"Other"}]},"item_7_description_21":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"脳腱黄色腫(CTX)症例2例(症例1:65歳男.症例2:67歳男)を対象に,シトクロムP-450(CYP)27遺伝子解析を,PCR-一本鎖構成体多型法,直接塩基配列決定法,変異アリル特異的制限酵素切断法を用いて検索した.症例1ではCPY27遺伝子のエクソン2の104番目のアミノ酸Argに対応する配列CGGが,Glnに対応する配列CAGへと変化する変異R104Qを検出した.この変異はこれまで報告のない,新変異であった.又,症例1からはCPY27遺伝子のエクソン8の441番目のアミノ酸Argに対応する配列CGGが,Glnに対応する配列CAGへと変化する変異R441Qを検出した.よって,本症例はR104Q変異とR441Q変異の複合型ヘテロ接合体であることが判明した.症例2ではCPY27遺伝子のエクソン8の441番目のアミノ酸Argに対応する配列CGGが,Trpに対応する配列TGGへと変化する変異R441Wを検出した.本症に対するケノデオキシコール酸による治療効果を検討したところ,検査所見の改善以前に,中枢神経系の機能改善をもたらす可能性が示唆された","subitem_description_type":"Abstract"}]},"item_7_description_22":{"attribute_name":"内容記述","attribute_value_mlt":[{"subitem_description":"原著論文/症例報告","subitem_description_type":"Other"}]},"item_7_description_5":{"attribute_name":"提供者所属","attribute_value_mlt":[{"subitem_description":"金沢大学医系研究循環医","subitem_description_type":"Other"}]},"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_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"野末, 剛"}],"nameIdentifiers":[{"nameIdentifier":"30856","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":"2017-10-04"}],"displaytype":"detail","filename":"C0000002237-009-nozue.pdf","filesize":[{"value":"3.2 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"C0000002237-009-nozue.pdf","url":"https://kanazawa-u.repo.nii.ac.jp/record/17175/files/C0000002237-009-nozue.pdf"},"version_id":"e39b54ed-f92f-4dd5-b738-3b23d4739062"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"Chenodeoxycholic Acid(治療的利用)","subitem_subject_scheme":"Other"},{"subitem_subject":"Cholestanol(血液)","subitem_subject_scheme":"Other"},{"subitem_subject":"Cytochrome P-450","subitem_subject_scheme":"Other"},{"subitem_subject":"劣性遺伝子","subitem_subject_scheme":"Other"},{"subitem_subject":"MRI","subitem_subject_scheme":"Other"},{"subitem_subject":"SSCP","subitem_subject_scheme":"Other"},{"subitem_subject":"治療成績","subitem_subject_scheme":"Other"},{"subitem_subject":"点変異","subitem_subject_scheme":"Other"},{"subitem_subject":"脳腱黄色腫症(病因,遺伝学,薬物療法)","subitem_subject_scheme":"Other"},{"subitem_subject":"配列分析Cytochrome P-450C27-25","subitem_subject_scheme":"Other"},{"subitem_subject":"　ヒト","subitem_subject_scheme":"Other"},{"subitem_subject":"老年者(65～)","subitem_subject_scheme":"Other"},{"subitem_subject":"男","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":"脳腱黄色腫症の遺伝子解析とケノデオキシコール酸による治療効果に関する研究","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"脳腱黄色腫症の遺伝子解析とケノデオキシコール酸による治療効果に関する研究"}]},"item_type_id":"7","owner":"3","path":["1325"],"pubdate":{"attribute_name":"公開日","attribute_value":"2017-10-04"},"publish_date":"2017-10-04","publish_status":"0","recid":"17175","relation_version_is_last":true,"title":["脳腱黄色腫症の遺伝子解析とケノデオキシコール酸による治療効果に関する研究"],"weko_creator_id":"3","weko_shared_id":-1},"updated":"2023-07-28T00:07:04.112768+00:00"}