{"created":"2023-07-27T06:31:39.760121+00:00","id":17167,"links":{},"metadata":{"_buckets":{"deposit":"c45db5f5-f00c-4f96-a860-a6eb0c4f5384"},"_deposit":{"created_by":3,"id":"17167","owners":[3],"pid":{"revision_id":0,"type":"depid","value":"17167"},"status":"published"},"_oai":{"id":"oai:kanazawa-u.repo.nii.ac.jp:00017167","sets":["1132:1137:1270:1324"]},"author_link":["30848"],"item_7_biblio_info_8":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2002-06-01","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"2・3","bibliographicPageEnd":"141","bibliographicPageStart":"130","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":"2003045261","subitem_description_type":"Other"}]},"item_7_description_21":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"日本人2型糖尿病患者で,35歳以下発症で三世代または二世代かつ同胞に家族歴を有する患者30名(1群)と35歳以下発症で家族歴が1群の用件を満たさない患者33名(2群),36歳以降発症で家族歴が1群と同じ患者15名(3群)を対象に,肝細胞核因子(HNF)-1α遺伝子変異と新しい変異の有無を検索し,さらに,変異蛋白を機能解析し変異保有者の臨床像と比較検討した.15歳以下発症者8名のうち2名にHNF-1α遺伝子変異を検出した.1家系4名に新しくHNF-1α遺伝子Thr433Ile変異を検出し,変異蛋白の機能解析よりドミナントネガティブ変異であると判断した.この家系の検討より,若年発症成人型糖尿病第3型患者の臨床像は,他の糖尿病遺伝因子に修飾される可能性があることを示唆した.1家系2名にHNF-1α遺伝子Pro291fsinsC変異を検出したが,発端者のインスリン分泌障害の進行は緩徐で,今までの報告と異なる臨床像であった","subitem_description_type":"Abstract"}]},"item_7_description_22":{"attribute_name":"内容記述","attribute_value_mlt":[{"subitem_description":"原著論文/比較研究","subitem_description_type":"Other"}]},"item_7_description_5":{"attribute_name":"提供者所属","attribute_value_mlt":[{"subitem_description":"金沢大学大学院医学系研究科循環医科学専攻血管分子遺伝学","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":"浅野, 昭道"}],"nameIdentifiers":[{"nameIdentifier":"30848","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":"C0000002237-010-asano.pdf","filesize":[{"value":"1.6 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"C0000002237-010-asano.pdf","url":"https://kanazawa-u.repo.nii.ac.jp/record/17167/files/C0000002237-010-asano.pdf"},"version_id":"da7cd5f9-787f-4581-ab52-3219f5fcbbbb"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"糖尿病-2型(遺伝学)","subitem_subject_scheme":"Other"},{"subitem_subject":"変異","subitem_subject_scheme":"Other"},{"subitem_subject":"分子生物学","subitem_subject_scheme":"Other"},{"subitem_subject":"肝細胞Liver-Specific Transcription Factor LF-B1","subitem_subject_scheme":"Other"},{"subitem_subject":"　ヒト","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":"日本人2型糖尿病患者における肝細胞核因子-1α遺伝子変異に関する分子遺伝学的研究","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"日本人2型糖尿病患者における肝細胞核因子-1α遺伝子変異に関する分子遺伝学的研究"}]},"item_type_id":"7","owner":"3","path":["1324"],"pubdate":{"attribute_name":"公開日","attribute_value":"2017-10-04"},"publish_date":"2017-10-04","publish_status":"0","recid":"17167","relation_version_is_last":true,"title":["日本人2型糖尿病患者における肝細胞核因子-1α遺伝子変異に関する分子遺伝学的研究"],"weko_creator_id":"3","weko_shared_id":-1},"updated":"2023-07-28T00:07:11.329342+00:00"}