{"created":"2023-07-27T06:51:01.816193+00:00","id":44274,"links":{},"metadata":{"_buckets":{"deposit":"a1ca561b-d8db-4b97-bda8-cc563613dcf8"},"_deposit":{"created_by":18,"id":"44274","owners":[18],"pid":{"revision_id":0,"type":"depid","value":"44274"},"status":"published"},"_oai":{"id":"oai:kanazawa-u.repo.nii.ac.jp:00044274","sets":["2812:2813:2816"]},"author_link":["21326","2504"],"item_9_biblio_info_8":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2018-04-23","bibliographicIssueDateType":"Issued"},"bibliographicPageStart":"5p.","bibliographicVolumeNumber":"2015-04-01 - 2018-03-31","bibliographic_titles":[{"bibliographic_title":"平成29(2017)年度 科学研究費補助金 基盤研究(C) 研究成果報告書"},{"bibliographic_title":"2017 Fiscal Year Final Research Report","bibliographic_titleLang":"en"}]}]},"item_9_creator_33":{"attribute_name":"著者別表示","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{}],"nameIdentifiers":[{},{},{},{}]}]},"item_9_description_21":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"好中球二次顆粒欠損症 (SGD) は、転写因子C/EBPεの異常により引き起こされる先天性免疫不全症である。我々は新規変異を有する世界第3例目のSGD成人例を報告した。本変異はロイシンジッパー領域に存在する2アミノ酸欠失のインフレーム変異であった。細胞内分布やDNA結合能は障害されないものの、他の転写因子との蛋白質間相互作用の減弱により転写活性化能が消失し、SGDを発症することが判明した。また患者好中球では、CD14などの単球マーカーが異常に発現していた。本研究によりC/EBPε遺伝子のロイシンジッパー領域の重要性、SGD発症の新たな分子メカニズムが明らかにされた。","subitem_description_type":"Abstract"},{"subitem_description":"Neutrophil-specific granule deficiency (SGD) is a primary immunodeficiency disease caused by mutations in a transcription factor, CCAAT/enhancer binding protein-ε (C/EBPε). We have identified a third case of genetically defined SGD. She had a novel homozygous 2-aa deletion in the leucine zipper domain of the C/EBPε gene. The mutant maintained normal cellular localization and DNA-binding activity, but was defective in protein-protein interaction with other transcription factors, resulting in a loss of transcriptional activation. Her neutrophils showed aberrant expression of monocyte markers such as CD14. These results support the importance of the leucine zipper domain of C/EBPε for its essential function, and indicate a novel molecular mechanism that leads to SGD in the patient.","subitem_description_type":"Abstract"}]},"item_9_description_22":{"attribute_name":"内容記述","attribute_value_mlt":[{"subitem_description":"研究課題/領域番号:15K09642, 研究期間(年度):2015-04-01 - 2018-03-31","subitem_description_type":"Other"},{"subitem_description":"出典：研究課題「好中球二次顆粒欠損症の新規C/EBPε変異と好中球分化異常に関する研究」課題番号15K09642\n（KAKEN：科学研究費助成事業データベース（国立情報学研究所）） \n（https://kaken.nii.ac.jp/report/KAKENHI-PROJECT-15K09642/15K09642seika/）を加工して作成","subitem_description_type":"Other"}]},"item_9_description_5":{"attribute_name":"提供者所属","attribute_value_mlt":[{"subitem_description":"金沢大学附属病院小児科","subitem_description_type":"Other"}]},"item_9_identifier_registration":{"attribute_name":"ID登録","attribute_value_mlt":[{"subitem_identifier_reg_text":"10.24517/00050616","subitem_identifier_reg_type":"JaLC"}]},"item_9_relation_28":{"attribute_name":"関連URI","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"https://kaken.nii.ac.jp/search/?qm=30313646"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/search/?qm=30313646","subitem_relation_type_select":"URI"}},{"subitem_relation_name":[{"subitem_relation_name_text":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-15K09642/"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-15K09642/","subitem_relation_type_select":"URI"}},{"subitem_relation_name":[{"subitem_relation_name_text":"https://kaken.nii.ac.jp/report/KAKENHI-PROJECT-15K09642/15K09642seika/"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/report/KAKENHI-PROJECT-15K09642/15K09642seika/","subitem_relation_type_select":"URI"}}]},"item_9_version_type_25":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_ab4af688f83e57aa","subitem_version_type":"AM"}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2019-04-11"}],"displaytype":"detail","filename":"ME-PR-WADA-T-kaken 2018-5p.pdf","filesize":[{"value":"171.0 kB"}],"format":"application/pdf","licensetype":"license_11","mimetype":"application/pdf","url":{"label":"ME-PR-WADA-T-kaken 2018-5p.pdf","url":"https://kanazawa-u.repo.nii.ac.jp/record/44274/files/ME-PR-WADA-T-kaken 2018-5p.pdf"},"version_id":"c3529adc-3053-41c0-925b-2006c652e02d"}]},"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":"research report","resourceuri":"http://purl.org/coar/resource_type/c_18ws"}]},"item_title":"好中球二次顆粒欠損症の新規C/EBPε変異と好中球分化異常に関する研究","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"好中球二次顆粒欠損症の新規C/EBPε変異と好中球分化異常に関する研究"},{"subitem_title":"Analysis of a novel mutation in the C/EBPε gene and granulocytic differentiation in neutrophil-specific granule deficiency","subitem_title_language":"en"}]},"item_type_id":"9","owner":"18","path":["2816"],"pubdate":{"attribute_name":"公開日","attribute_value":"2019-04-11"},"publish_date":"2019-04-11","publish_status":"0","recid":"44274","relation_version_is_last":true,"title":["好中球二次顆粒欠損症の新規C/EBPε変異と好中球分化異常に関する研究"],"weko_creator_id":"18","weko_shared_id":-1},"updated":"2023-07-27T13:03:22.151182+00:00"}