{"created":"2023-05-15T09:02:52.385681+00:00","id":3759,"links":{},"metadata":{"_buckets":{"deposit":"59343dab-cb07-4423-b8d1-d8f9c5b8a9b1"},"_deposit":{"created_by":3,"id":"3759","owners":[3],"pid":{"revision_id":0,"type":"depid","value":"3759"},"status":"published"},"_oai":{"id":"oai:hirosaki.repo.nii.ac.jp:00003759","sets":["557:561:652"]},"author_link":["11163","13531","13528","11531","11517","11155","11524","13527","11147"],"item_3_alternative_title_21":{"attribute_name":"その他のタイトル","attribute_value_mlt":[{"subitem_alternative_title":"Papillon-Lefèvre Syndrome: Impact of Cathepsin C Activities on the Phenotypic Expression"}]},"item_3_alternative_title_22":{"attribute_name":"タイトル（ヨミ）","attribute_value_mlt":[{"subitem_alternative_title":"Papillon-Lefèvre　ショウコウグン　カテプシン　C　コウソ　カッセイ　ガ　リンショウ　ショウジョウ　ニ　アタエル　エイキョウ"}]},"item_3_biblio_info_8":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2013-05-31","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageEnd":"70","bibliographicPageStart":"65","bibliographicVolumeNumber":"64","bibliographic_titles":[{"bibliographic_title":"弘前医学"}]}]},"item_3_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Papillon-Lefèvre 症候群（PLS）は掌蹠を含む四肢末端の潮紅と過角化，若年性歯周囲炎を特徴とする稀な常染色体劣性遺伝性疾患である．PLSはジペプジルペプチダーゼ（I DPPI）としても知られる酵素カテプシンC（CTSC）をコードするCTSC遺伝子の変異によって発症する．CTSCはシステインプロテアーゼであり，好中球エラスターゼなどのセリンプロテアーゼを活性化し，骨髄・リンパ球系細胞の炎症・免疫反応に関与する．今回我々は，CTSC遺伝子上にある比較的稀な一塩基多型（single nucleotide polymorphism: SNP）のひとつであるc.1357 A>G（p.I453V）と，PLSにおけるCTSC機能解析を行った．遺伝子型がc.1357A/Aである健常人に比し，c.1357A/Gの健常人におけるCTSC酵素活性は50%，さらにc.1357G/Gの健常人では10%と段階的に低下することが明らかになった．さらにPLS患者のCTSC酵素活性は1%以下であり，CTSC酵素活性がほぼ0になることよりPLSが発症することがわかった．","subitem_description_type":"Abstract"}]},"item_3_description_7":{"attribute_name":"引用","attribute_value_mlt":[{"subitem_description":"弘前医学. 64, 2013, p.65-70","subitem_description_type":"Other"}]},"item_3_full_name_2":{"attribute_name":"著者(ヨミ)","attribute_value_mlt":[{"nameIdentifiers":[{"nameIdentifier":"13528","nameIdentifierScheme":"WEKO"}],"names":[{"name":"タキヨシ, ノリコ"}]},{"nameIdentifiers":[{"nameIdentifier":"11163","nameIdentifierScheme":"WEKO"}],"names":[{"name":"ナカノ, ハジメ"}]},{"nameIdentifiers":[{"nameIdentifier":"11524","nameIdentifierScheme":"WEKO"}],"names":[{"name":"サワムラ, ダイスケ"}]}]},"item_3_full_name_3":{"attribute_name":"著者別名","attribute_value_mlt":[{"nameIdentifiers":[{"nameIdentifier":"13531","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Takiyoshi, Noriko"}]},{"nameIdentifiers":[{"nameIdentifier":"11147","nameIdentifierScheme":"WEKO"},{"nameIdentifier":"269","nameIdentifierScheme":"研究者総覧","nameIdentifierURI":"http://hue2.jm.hirosaki-u.ac.jp/html/269_ja.html"}],"names":[{"name":"Nakano, Hajime"}]},{"nameIdentifiers":[{"nameIdentifier":"11517","nameIdentifierScheme":"WEKO"},{"nameIdentifier":"268","nameIdentifierScheme":"研究者総覧","nameIdentifierURI":"http://hue2.jm.hirosaki-u.ac.jp/html/268_ja.html"}],"names":[{"name":"Sawamura, Daisuke"}]}]},"item_3_publisher_35":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"弘前大学大学院医学研究科・弘前医学会"}]},"item_3_radio_42":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"subitem_radio_item":"Article"}]},"item_3_source_id_11":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AN00211444","subitem_source_identifier_type":"NCID"}]},"item_3_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"0439-1721","subitem_source_identifier_type":"ISSN"}]},"item_3_subject_19":{"attribute_name":"日本十進分類法","attribute_value_mlt":[{"subitem_subject":"491.6","subitem_subject_scheme":"NDC"}]},"item_3_subject_23":{"attribute_name":"NIIサブジェクト","attribute_value_mlt":[{"subitem_subject":"内科系臨床医学","subitem_subject_scheme":"Other"}]},"item_3_text_4":{"attribute_name":"著者所属","attribute_value_mlt":[{"subitem_text_value":"弘前大学大学院医学研究科皮膚科学講座"},{"subitem_text_value":"Department of Dermatology, Hirosaki University Graduate School of Medicine"}]},"item_3_version_type_18":{"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":"滝吉, 典子"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"中野, 創"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"澤村, 大輔"}],"nameIdentifiers":[{},{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2018-03-13"}],"displaytype":"detail","filename":"HirosakiMedJ_64(1)_65.pdf","filesize":[{"value":"1.3 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"HirosakiMedJ_64(1)_65.pdf","url":"https://hirosaki.repo.nii.ac.jp/record/3759/files/HirosakiMedJ_64(1)_65.pdf"},"version_id":"711e2d5b-88ed-4ac1-9b79-8e11611898b9"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"Papillon-Lefèvre症候群（PLS）","subitem_subject_scheme":"Other"},{"subitem_subject":"カテプシンC（CTSC）","subitem_subject_scheme":"Other"},{"subitem_subject":"ジペプジルペプチダーゼ（I DPPI）","subitem_subject_scheme":"Other"},{"subitem_subject":"一塩基多型","subitem_subject_scheme":"Other"},{"subitem_subject":"Papillon-Lefèvre syndrome（ PLS）","subitem_subject_scheme":"Other"},{"subitem_subject":"Cathepsin C（CTSC）","subitem_subject_scheme":"Other"},{"subitem_subject":"Dipeptidyl peptidase 1（DPPI）","subitem_subject_scheme":"Other"},{"subitem_subject":"single nucleotide polymorphism（SNP）","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":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"Papillon-Lefèvre 症候群 : カテプシンC 酵素活性が臨床症状にあたえる影響","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Papillon-Lefèvre 症候群 : カテプシンC 酵素活性が臨床症状にあたえる影響"}]},"item_type_id":"3","owner":"3","path":["652"],"pubdate":{"attribute_name":"公開日","attribute_value":"2013-08-02"},"publish_date":"2013-08-02","publish_status":"0","recid":"3759","relation_version_is_last":true,"title":["Papillon-Lefèvre 症候群 : カテプシンC 酵素活性が臨床症状にあたえる影響"],"weko_creator_id":"3","weko_shared_id":3},"updated":"2023-05-15T11:21:27.061164+00:00"}