{"created":"2021-03-01T06:30:45.576564+00:00","id":22949,"links":{},"metadata":{"_buckets":{"deposit":"fa8100ad-67a5-4303-8ddc-e89db01b4161"},"_deposit":{"created_by":17,"id":"22949","owners":[17],"pid":{"revision_id":0,"type":"depid","value":"22949"},"status":"published"},"_oai":{"id":"oai:nagoya.repo.nii.ac.jp:00022949","sets":["499:508:509:1930"]},"author_link":["67690","67691","67692","67693","67694","67695","67696","67697","67698","67699","67700","67701","67702","67703"],"item_1615768549627":{"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_9_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2016-11","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"4","bibliographicPageEnd":"492","bibliographicPageStart":"485","bibliographicVolumeNumber":"78","bibliographic_titles":[{"bibliographic_title":"Nagoya Journal of Medical Science","bibliographic_titleLang":"en"}]}]},"item_9_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Darier’s disease (DD, keratosis follicularis: OMIM#124200) is an autosomal dominant skin disorder characterized by multiple dark brown keratotic plaques and warty papules covered by thick crusts. Most cases of DD are caused by mutations in ATP2A2, which is expressed in both the skin and the brain. ATP2A2 encodes the cardiac muscle SERCA2a protein and the ubiquitously expressed SERCA2b. SERCA2 plays an important role as a calcium pump. It is thought that a mutation in ATP2A2 causes dyskeratosis and abnormality of cell-cell adhesion. Here, we report five DD patients from five independent families who presented or were referred to the Nagoya University Hospital in the past five years. We detected five mutations in ATP2A2, including a previously unreported mutation. We observed no apparent genotype/ phenotype correlation between types and sites of the ATP2A2 mutations and DD phenotypes in the present series of DD patients. Genetic diagnosis from ATP2A2 mutation search is useful for the definite diagnosis of DD, although it is difficult to predict the severity and prognosis of skin symptoms from the results of the ATP2A2 mutation analysis in DD patients.","subitem_description_language":"en","subitem_description_type":"Abstract"}]},"item_9_identifier_60":{"attribute_name":"URI","attribute_value_mlt":[{"subitem_identifier_type":"HDL","subitem_identifier_uri":"http://hdl.handle.net/2237/25129"}]},"item_9_identifier_registration":{"attribute_name":"ID登録","attribute_value_mlt":[{"subitem_identifier_reg_text":"10.18999/nagjms.78.4.485","subitem_identifier_reg_type":"JaLC"}]},"item_9_publisher_32":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"Nagoya University Graduate School of Medicine, School of Medicine","subitem_publisher_language":"en"}]},"item_9_relation_43":{"attribute_name":"関連情報","attribute_value_mlt":[{"subitem_relation_type":"isVersionOf","subitem_relation_type_id":{"subitem_relation_type_id_text":"http://www.med.nagoya-u.ac.jp/medlib/nagoya_j_med_sci/784.html","subitem_relation_type_select":"URI"}}]},"item_9_rights_12":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International","subitem_rights_language":"en","subitem_rights_resource":"http://creativecommons.org/licenses/by-nc-nd/4.0/"}]},"item_9_select_15":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_select_item":"publisher"}]},"item_9_source_id_61":{"attribute_name":"ISSN（Online）","attribute_value_mlt":[{"subitem_source_identifier":"2186-3326","subitem_source_identifier_type":"EISSN"}]},"item_9_source_id_7":{"attribute_name":"ISSN（print）","attribute_value_mlt":[{"subitem_source_identifier":"0027-7622","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":"Noda, Kana","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"67690","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Takeichi, Takuya","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"67691","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Okuno, Yusuke","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"67692","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Takama, Hiromichi","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"67693","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Miura, Shunsuke","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"67694","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Kagami, Shinji","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"67695","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Hino, Haruko","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"67696","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Nakamura, Yuki","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"67697","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Fujio, Yumi","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"67698","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Konohana, Izumi","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"67699","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Otani, Ayako","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"67700","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Mukai, Hideki","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"67701","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Sugiura, Kazumitsu","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"67702","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Akiyama, Masashi","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"67703","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":"2018-02-22"}],"displaytype":"detail","filename":"24_Noda.pdf","filesize":[{"value":"5.8 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"24_Noda.pdf","objectType":"fulltext","url":"https://nagoya.repo.nii.ac.jp/record/22949/files/24_Noda.pdf"},"version_id":"f6a84587-6bdf-4399-85f8-0141e2c755c0"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"ATP2A2","subitem_subject_scheme":"Other"},{"subitem_subject":"Darier’s disease","subitem_subject_scheme":"Other"},{"subitem_subject":"genotype/phenotype correlation","subitem_subject_scheme":"Other"},{"subitem_subject":"mutation","subitem_subject_scheme":"Other"},{"subitem_subject":"SERCA2","subitem_subject_scheme":"Other"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"eng"}]},"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":"Novel and recurrent ATP2A2 mutations in Japanese patients with Darier’s disease","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Novel and recurrent ATP2A2 mutations in Japanese patients with Darier’s disease","subitem_title_language":"en"}]},"item_type_id":"9","owner":"17","path":["1930"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2016-11-29"},"publish_date":"2016-11-29","publish_status":"0","recid":"22949","relation_version_is_last":true,"title":["Novel and recurrent ATP2A2 mutations in Japanese patients with Darier’s disease"],"weko_creator_id":"17","weko_shared_id":-1},"updated":"2023-11-16T04:47:13.835281+00:00"}