{"created":"2023-06-19T11:20:44.507624+00:00","id":818,"links":{},"metadata":{"_buckets":{"deposit":"4e0031f3-580d-4988-97f0-07d4f831b4f6"},"_deposit":{"created_by":3,"id":"818","owners":[3],"pid":{"revision_id":0,"type":"depid","value":"818"},"status":"published"},"_oai":{"id":"oai:asahikawa-med.repo.nii.ac.jp:00000818","sets":["7","7:23"]},"author_link":["2403","2404","2405","2406","2407"],"item_5_biblio_info_21":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2006-03-01","bibliographicIssueDateType":"Issued"},"bibliographicPageEnd":"84","bibliographicPageStart":"80","bibliographicVolumeNumber":"20","bibliographic_titles":[{"bibliographic_title":"角化症研究会記録集"}]}]},"item_5_description_33":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"非水疱型先天性魚鱗癬様紅皮症としてすでに報告したNetherton症候群の女性である.出生時から著明な落屑を伴う紅皮症,落屑を認めた.3歳時には低身長,低体重を指摘された.皮疹は年齢とともに軽減したが,顔面と体幹は常に紅く,四肢には鱗屑を伴う局面がみられた.17歳ころになって頭髪の伸びが遅いことを自覚した.毛髪には数本の折れ毛や結節性裂毛がみられた.末梢血好酸球増多,IgE高値を認めた.末梢血からゲノムDNAを抽出しPCRによってSPINK5遺伝子全体を増幅した.全33エクソンを個別に増幅し,2つの変異がみられた.デスモゾームの分解に関与するタンパク分解酵素の阻害に働いていることが示唆された.LEKTIが欠損しているためにデスモゾームは早期に分解しやすくなっていると考えた","subitem_description_language":"ja","subitem_description_type":"Abstract"}]},"item_5_description_36":{"attribute_name":"注記","attribute_value_mlt":[{"subitem_description":"出版社版","subitem_description_type":"Other"}]},"item_5_description_37":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"subitem_description":"text","subitem_description_type":"Other"}]},"item_5_description_41":{"attribute_name":"フォーマット","attribute_value_mlt":[{"subitem_description":"application/pdf","subitem_description_type":"Other"}]},"item_5_text_44":{"attribute_name":"ID(XooNIps)","attribute_value_mlt":[{"subitem_text_value":"2006145933"}]},"item_5_text_54":{"attribute_name":"閲覧数(XooNIps)","attribute_value_mlt":[{"subitem_text_value":"2314"}]},"item_5_text_55":{"attribute_name":"ダウンロード数(XooNIps)","attribute_value_mlt":[{"subitem_text_value":"2023"}]},"item_5_text_7":{"attribute_name":"著者 ローマ字","attribute_value_mlt":[{"subitem_text_value":"Yamamoto, Akemi"},{"subitem_text_language":"en","subitem_text_value":"Hashimoto, Yoshio"},{"subitem_text_language":"en","subitem_text_value":"Iizuka, Hajime"},{"subitem_text_language":"en"}]},"item_5_version_type_38":{"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":"山本, 明美","creatorNameLang":"ja"},{"creatorName":"ヤマモト, アケミ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{"nameIdentifier":"2403","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"橋本, 喜夫","creatorNameLang":"ja"},{"creatorName":"ハシモト, ヨシオ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{"nameIdentifier":"2404","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"飯塚, 一","creatorNameLang":"ja"},{"creatorName":"イイヅカ, ハジメ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{"nameIdentifier":"2405","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Richard, Gabriele","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"2406","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Hovnanian, Alain","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"2407","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":"2021-07-06"}],"displaytype":"detail","filename":"1008.pdf","filesize":[{"value":"1.8 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"1008.pdf","url":"https://asahikawa-med.repo.nii.ac.jp/record/818/files/1008.pdf"},"version_id":"b3826c3d-b3fe-4b97-823f-ab899fffc6dc"}]},"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":"Netherton症候群の1例","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Netherton症候群の1例","subitem_title_language":"ja"}]},"item_type_id":"5","owner":"3","path":["6","7","23"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2008-05-15"},"publish_date":"2008-05-15","publish_status":"0","recid":"818","relation_version_is_last":true,"title":["Netherton症候群の1例"],"weko_creator_id":"3","weko_shared_id":-1},"updated":"2024-07-16T09:28:37.335895+00:00"}