{"created":"2021-03-01T06:05:44.485672+00:00","id":2051,"links":{},"metadata":{"_buckets":{"deposit":"d8c31bb8-1f0f-4606-b852-a609c44f207a"},"_deposit":{"id":"2051","owners":[],"pid":{"revision_id":0,"type":"depid","value":"2051"},"status":"published"},"_oai":{"id":"oai:niigata-u.repo.nii.ac.jp:00002051","sets":["453:454","471:472:473"]},"item_5_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2003-04","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"4","bibliographicPageEnd":"415","bibliographicPageStart":"409","bibliographicVolumeNumber":"35","bibliographic_titles":[{"bibliographic_title":"Journal of Molecular and Cellular Cardiology"},{"bibliographic_title":"Journal of Molecular and Cellular Cardiology","bibliographic_titleLang":"en"}]}]},"item_5_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Andersen’s syndrome, which is characterized by periodic paralysis, cardiac arrhythmias and dysmorphic features, is a hereditary disease, and missense mutations of KCNJ2, which encodes an inward rectifying potassium channel, have been reported recently. We performed clinical and molecular analyses of a patient with Andersen’s syndrome, and found a novel mutation (G215D) of KCNJ2. Twelve lead electrocardiography revealed a long QT interval and frequent premature ventricular contractions, and polymorphic ventricular tachycardia was induced by programmed electrical stimulation. Use of a conventional whole-cell patch-clamp system with COS7 cells demonstrated that the G215D mutant was non functional, and that co-expression of wild type (WT)- and mutant-KCNJ2 shows a dominant negative effect on both inward and outward currents. We performed confocal laser scanning microscopy to assess the cellular trafficking of WT- and mutant-KCNJ2 subunits tagged with yellow fluorescent protein (YFP) and cyan fluorescent protein (CFP), respectively. Tagging with the YFP did not affect the channel function of WT-KCNJ2 and both proteins showed similar plasma membrane fluorescence patterns. Furthermore, the result of fluorescence resonance energy transfer (FRET) studies at the plasma membrane region suggested that both YFP-tagged WT- and CFP-tagged mutant-KCNJ2 combine to construct a hetero-multimer of the potassium channel. In conclusion, the G215D mutant of KCNJ2 is distributed normally in the plasma membrane, but exhibits a dominant negative effect and reduces the Kir2.1 current, presumably due to hetero-multimer construction.","subitem_description_type":"Abstract"}]},"item_5_full_name_3":{"attribute_name":"著者別名","attribute_value_mlt":[{"nameIdentifiers":[{"nameIdentifier":"6785","nameIdentifierScheme":"WEKO"}],"names":[{"name":"塙, 晴雄"}]}]},"item_5_publisher_7":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"Elsevier Science Ltd."}]},"item_5_relation_14":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_type_id":{"subitem_relation_type_id_text":"info:doi/10.1016/S0022-2828(03)00046-4","subitem_relation_type_select":"DOI"}}]},"item_5_select_19":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_select_item":"author"}]},"item_5_source_id_11":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AA00702819","subitem_source_identifier_type":"NCID"}]},"item_5_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"00222828","subitem_source_identifier_type":"ISSN"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Hosaka, Yukio"}],"nameIdentifiers":[{"nameIdentifier":"6776","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Hanawa, Haruo"}],"nameIdentifiers":[{"nameIdentifier":"6777","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Washizuka, Takashi"}],"nameIdentifiers":[{"nameIdentifier":"6778","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Chinushi, Masaomi"}],"nameIdentifiers":[{"nameIdentifier":"6779","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Yamashita, Fumio"}],"nameIdentifiers":[{"nameIdentifier":"6780","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Yoshida, Tsuyoshi"}],"nameIdentifiers":[{"nameIdentifier":"6781","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Komura, Satoru"}],"nameIdentifiers":[{"nameIdentifier":"6782","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Watanabe, Hiroshi"}],"nameIdentifiers":[{"nameIdentifier":"6783","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Aizawa, Yoshifusa"}],"nameIdentifiers":[{"nameIdentifier":"6784","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":"2019-07-29"}],"displaytype":"detail","filename":"JMCC all.pdf","filesize":[{"value":"235.8 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"JMCC all.pdf","url":"https://niigata-u.repo.nii.ac.jp/record/2051/files/JMCC all.pdf"},"version_id":"e1b23eb4-8a3d-47c4-a91d-3bcd91dcbffe"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"Andersen's syndrome","subitem_subject_scheme":"Other"},{"subitem_subject":"mutation","subitem_subject_scheme":"Other"},{"subitem_subject":"KCNJ2","subitem_subject_scheme":"Other"},{"subitem_subject":"potassium channel","subitem_subject_scheme":"Other"},{"subitem_subject":"long QT","subitem_subject_scheme":"Other"},{"subitem_subject":"ventricular tachycardia","subitem_subject_scheme":"Other"},{"subitem_subject":"patch-clamp","subitem_subject_scheme":"Other"},{"subitem_subject":"confocal laser scanning microscopy","subitem_subject_scheme":"Other"},{"subitem_subject":"trafficking","subitem_subject_scheme":"Other"},{"subitem_subject":"fluorescence resonance energy transfer(FRET)","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":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"Function, Subcellular Localization and Assembly of a Novel Mutation of KCNJ2 in Andersen's Syndrome","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Function, Subcellular Localization and Assembly of a Novel Mutation of KCNJ2 in Andersen's Syndrome"},{"subitem_title":"Function, Subcellular Localization and Assembly of a Novel Mutation of KCNJ2 in Andersen's Syndrome","subitem_title_language":"en"}]},"item_type_id":"5","owner":"1","path":["454","473"],"pubdate":{"attribute_name":"公開日","attribute_value":"2007-06-04"},"publish_date":"2007-06-04","publish_status":"0","recid":"2051","relation_version_is_last":true,"title":["Function, Subcellular Localization and Assembly of a Novel Mutation of KCNJ2 in Andersen's Syndrome"],"weko_creator_id":"1","weko_shared_id":null},"updated":"2022-12-15T03:34:51.909860+00:00"}