{"created":"2022-10-20T06:31:20.413544+00:00","id":2000735,"links":{},"metadata":{"_buckets":{"deposit":"eccb27e8-3065-4816-b158-1c9609e154fa"},"_deposit":{"id":"2000735","owners":[1],"pid":{"revision_id":0,"type":"depid","value":"2000735"},"status":"published"},"_oai":{"id":"oai:niigata-u.repo.nii.ac.jp:02000735","sets":["453:456","471:537:538:1666246832930"]},"author_link":[],"item_1627361970403":{"attribute_name":"出版タイプ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_7_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2022-02","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"2","bibliographicPageEnd":"67","bibliographicPageStart":"57","bibliographicVolumeNumber":"136","bibliographic_titles":[{"bibliographic_title":"新潟医学会雑誌","bibliographic_titleLang":"ja"}]}]},"item_7_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Retinal vasculopathy with cerebral leukoencephalopathy(RVCL)はDNA特異的3'-5'エキソヌクレアーゼ活性を持つthree-prime repair exonuclease 1(TREX1)の遺伝子変異によって発症する疾患群の一つである．成人期に脳腫瘍類似の病巣を来し，急速に進行し死に至る．TREX1は，小胞体に局在し，細胞質のDNAを分解し，DNA誘導性の自然免疫応答を抑制する．実際，エキソヌクレアーゼ活性が失活したTREX1遺伝子変異をもつ患者では若年より自己免疫性疾患を発症する．一方，RVCL関連変異型TREX1では，エキソヌクレアーゼ活性は残存する．よって炎症反応が惹起されるか不明である．今回，私は，まずRVCLの脳生検病理所見報告を渉猟し，炎症性変化の有無を検討した．その結果，9症例中7症例(77.8%)の脳病変で炎症性変化を認めた．次に，RVCLで最も頻度の多いp.Val235GlyfsTer6(V235fs)変異TREX1の細胞モデルを作製した．V235fs TREX1は，小胞体への局在を失った．さらに野生型TREX1に比して，インターフェロンα1とインターロイキン8が上昇すること，細胞死が亢進することを見出した．以上よりRVCLにおいても，変異型TREX1による炎症反応の亢進を介した細胞毒性機序の可能性を示した．","subitem_description_language":"ja","subitem_description_type":"Abstract"}]},"item_7_publisher_7":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"新潟医学会","subitem_publisher_language":"ja"}]},"item_7_source_id_11":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AN00182415","subitem_source_identifier_type":"NCID"}]},"item_7_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"0029-0440","subitem_source_identifier_type":"PISSN"}]},"item_access_right":{"attribute_name":"アクセス権","attribute_value_mlt":[{"subitem_access_right":"open access","subitem_access_right_uri":"http://purl.org/coar/access_right/c_abf2"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"安藤, 昭一朗","creatorNameLang":"ja"},{"creatorName":"Ando, Shoichiro","creatorNameLang":"en"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_access","date":[{"dateType":"Available","dateValue":"2022-10-20"}],"displaytype":"detail","filename":"136(2)_57-67.pdf","filesize":[{"value":"2.19MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"objectType":"fulltext","url":"https://niigata-u.repo.nii.ac.jp/record/2000735/files/136(2)_57-67.pdf"},"version_id":"14fff869-feba-4319-b116-5ad1b7f881df"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"RVCL(Retinal vasculopathy with cerebral leukoencephalopathy)","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"TREX1","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"脳小血管病","subitem_subject_language":"ja","subitem_subject_scheme":"Other"},{"subitem_subject":"炎症性サイトカイン","subitem_subject_language":"ja","subitem_subject_scheme":"Other"},{"subitem_subject":"炎症反応","subitem_subject_language":"ja","subitem_subject_scheme":"Other"},{"subitem_subject":"細胞毒性","subitem_subject_language":"ja","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":"Retinal Vasculopathy with Cerebral Leukoencephalopathy(RVCL)関連変異型TREX1の炎症誘導と細胞毒性","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Retinal Vasculopathy with Cerebral Leukoencephalopathy(RVCL)関連変異型TREX1の炎症誘導と細胞毒性","subitem_title_language":"ja"},{"subitem_title":"RVCL-mutant TREX1 induces inflammation and cytotoxicity","subitem_title_language":"en"}]},"item_type_id":"7","owner":"1","path":["456","1666246832930"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2022-10-20"},"publish_date":"2022-10-20","publish_status":"0","recid":"2000735","relation_version_is_last":true,"title":["Retinal Vasculopathy with Cerebral Leukoencephalopathy(RVCL)関連変異型TREX1の炎症誘導と細胞毒性"],"weko_creator_id":"1","weko_shared_id":-1},"updated":"2022-12-15T04:18:35.127518+00:00"}