{"created":"2021-03-01T06:09:16.777714+00:00","id":5423,"links":{},"metadata":{"_buckets":{"deposit":"77a987e6-a5f5-4132-ad45-04cef28369f1"},"_deposit":{"id":"5423","owners":[],"pid":{"revision_id":0,"type":"depid","value":"5423"},"status":"published"},"_oai":{"id":"oai:niigata-u.repo.nii.ac.jp:00005423"},"item_6_alternative_title_1":{"attribute_name":"\u305d\u306e\u4ed6\u306e\u30bf\u30a4\u30c8\u30eb","attribute_value_mlt":[{"subitem_alternative_title":"\u82e5\u5e74\u6027\u5fc3\u623f\u7d30\u52d5\u60a3\u8005\u306b\u540c\u5b9a\u3055\u308c\u305f\u65b0\u305f\u306aKCNQ1\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u306fIKs\u30c1\u30e3\u30cd\u30eb\u3092\u6301\u7d9a\u7684\u306b\u958b\u53e3\u3055\u305b\u308b"}]},"item_6_biblio_info_6":{"attribute_name":"\u66f8\u8a8c\u60c5\u5831","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2014-03-24","bibliographicIssueDateType":"Issued"},"bibliographicPageEnd":"30","bibliographicPageStart":"1","bibliographic_titles":[{}]}]},"item_6_date_granted_51":{"attribute_name":"\u5b66\u4f4d\u6388\u4e0e\u5e74\u6708\u65e5","attribute_value_mlt":[{"subitem_dategranted":"2014-03-24"}]},"item_6_degree_grantor_49":{"attribute_name":"\u5b66\u4f4d\u6388\u4e0e\u6a5f\u95a2","attribute_value_mlt":[{"subitem_degreegrantor":[{"subitem_degreegrantor_name":"\u65b0\u6f5f\u5927\u5b66"}]}]},"item_6_degree_name_48":{"attribute_name":"\u5b66\u4f4d\u540d","attribute_value_mlt":[{"subitem_degreename":"\u535a\u58eb\uff08\u533b\u5b66\uff09"}]},"item_6_description_4":{"attribute_name":"\u6284\u9332","attribute_value_mlt":[{"subitem_description":"Background: Atrial fibrillation (AF) is one of the most common cardiac arrhythmias, and in some patients, the disease is inheritable. Hereditary aspects of AF, however, remain not fully elucidated. Objective: The purpose of this study was to identify genetic backgrounds contributed to juvenile-onset AF and to define the mechanism. Methods: In 30 consecutive juvenile-onset AF patients (onset age <50 year-old), we screened AF-related genes (KCNQ1, KCNH2, KCNE1-3 and 5, KCNJ2, and SCN5A). We analyzed the function of mutant channels using whole-cell patch-clamp techniques and computer simulations. Results: Among the juvenile-onset AF patients, we identified three mutations (10%), SCN5A-M1875T, KCNJ2-M301K, and KCNQ1-G229D. Since KCNQ1 variant (G229) identified in a 16-year-old boy was novel, we focused on the proband. The G229D-IKs was found to induce a large instantaneous activating component without deactivation after repolarization to \u201350 mV. In addition, WT/G229D-IKs (WT and mutant co-expression) displayed both instantaneous and time-dependent activating currents. Compared to WT-IKs, the tail current densities in WT/G229D-IKs were larger at test potentials between \u2013130 and \u201340 mV, but smaller at test potentials between 20 and 50 mV. Moreover, WT/G229D-IKs resulted in a negative voltage shift for current activation (\u221235.2 mV) and slower deactivation. WT/G229D-IKs conducted a large outward current Hasegawa et al. A novel KCNQ1 mutation in Juvenile-Onset AF 4 induced by an atrial action potential waveform, and computer simulation incorporating the WT/G229D-IKs results revealed that the mutation shortened atrial but not ventricular action potential. Conclusion: A novel KCNQ1-G229D mutation identified in a juvenile-onset AF patient altered the IKs activity and kinetics, thereby increasing the arrhythmogenicity to AF.","subitem_description_type":"Abstract"}]},"item_6_description_5":{"attribute_name":"\u5185\u5bb9\u8a18\u8ff0","attribute_value_mlt":[{"subitem_description":"\u5b66\u4f4d\u306e\u7a2e\u985e: \u535a\u58eb\uff08\u533b\u5b66\uff09. \u5831\u544a\u756a\u53f7: \u7532\u7b2c3861\u53f7. \u5b66\u4f4d\u8a18\u756a\u53f7: \u65b0\u5927\u9662\u535a\uff08\u533b\uff09\u7532\u7b2c601\u53f7. \u5b66\u4f4d\u6388\u4e0e\u5e74\u6708\u65e5: \u5e73\u621026\u5e743\u670824\u65e5","subitem_description_type":"Other"},{"subitem_description":"Heart Rhythm. 2014, 11(1), 67-75","subitem_description_type":"Other"}]},"item_6_description_53":{"attribute_name":"\u5b66\u4f4d\u8a18\u756a\u53f7","attribute_value_mlt":[{"subitem_description":"\u65b0\u5927\u9662\u535a\uff08\u533b\uff09\u7532\u7b2c601\u53f7","subitem_description_type":"Other"}]},"item_6_dissertation_number_52":{"attribute_name":"\u5b66\u4f4d\u6388\u4e0e\u756a\u53f7","attribute_value_mlt":[{"subitem_dissertationnumber":"13101\u7532\u7b2c3861\u53f7"}]},"item_6_full_name_3":{"attribute_name":"\u8457\u8005\u5225\u540d","attribute_value_mlt":[{"nameIdentifiers":[{"nameIdentifier":"50259","nameIdentifierScheme":"WEKO"}],"names":[{"name":"\u9577\u8c37\u5ddd, \u594f\u6075"}]}]},"item_6_publisher_7":{"attribute_name":"\u51fa\u7248\u8005","attribute_value_mlt":[{"subitem_publisher":"\u65b0\u6f5f\u5927\u5b66"}]},"item_6_relation_14":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_type_id":{"subitem_relation_type_id_text":"info:doi/10.1016/j.hrthm.2013.09.073","subitem_relation_type_select":"DOI"}}]},"item_6_rights_15":{"attribute_name":"\u6a29\u5229","attribute_value_mlt":[{"subitem_rights":"Copyright (C) 2013 Elsevier"}]},"item_6_select_19":{"attribute_name":"\u8457\u8005\u7248\u30d5\u30e9\u30b0","attribute_value_mlt":[{"subitem_select_item":"ETD"}]},"item_creator":{"attribute_name":"\u8457\u8005","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Hasegawa, Kanae"}],"nameIdentifiers":[{"nameIdentifier":"50258","nameIdentifierScheme":"WEKO"}]}]},"item_files":{"attribute_name":"\u30d5\u30a1\u30a4\u30eb\u60c5\u5831","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2019-08-05"}],"displaytype":"detail","filename":"h25nmk601.pdf","filesize":[{"value":"1.7 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"\u672c\u6587","url":"https://niigata-u.repo.nii.ac.jp/record/5423/files/h25nmk601.pdf"},"version_id":"b044f9d7-f827-4b70-87e5-bbd2cea9b133"},{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2019-08-05"}],"displaytype":"detail","filename":"h25nmk601_a.pdf","filesize":[{"value":"202.0 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"\u8981\u65e8","url":"https://niigata-u.repo.nii.ac.jp/record/5423/files/h25nmk601_a.pdf"},"version_id":"61c40224-0bfd-4e4f-b086-d21ef5950dbb"}]},"item_keyword":{"attribute_name":"\u30ad\u30fc\u30ef\u30fc\u30c9","attribute_value_mlt":[{"subitem_subject":"atrial fibrillation","subitem_subject_scheme":"Other"},{"subitem_subject":"juvenile-onset atrial fibrillation","subitem_subject_scheme":"Other"},{"subitem_subject":"ion channel","subitem_subject_scheme":"Other"},{"subitem_subject":"Iks","subitem_subject_scheme":"Other"},{"subitem_subject":"KCNQ1","subitem_subject_scheme":"Other"}]},"item_language":{"attribute_name":"\u8a00\u8a9e","attribute_value_mlt":[{"subitem_language":"eng"}]},"item_resource_type":{"attribute_name":"\u8cc7\u6e90\u30bf\u30a4\u30d7","attribute_value_mlt":[{"resourcetype":"thesis","resourceuri":"http://purl.org/coar/resource_type/c_46ec"}]},"item_title":"A Novel KCNQ1 Missense Mutation Identified in a Patient with Juvenile-Onset Atrial Fibrillation Causes Constitutively Open IKs Channels","item_titles":{"attribute_name":"\u30bf\u30a4\u30c8\u30eb","attribute_value_mlt":[{"subitem_title":"A Novel KCNQ1 Missense Mutation Identified in a Patient with Juvenile-Onset Atrial Fibrillation Causes Constitutively Open IKs Channels"},{"subitem_title":"A Novel KCNQ1 Missense Mutation Identified in a Patient with Juvenile-Onset Atrial Fibrillation Causes Constitutively Open IKs Channels","subitem_title_language":"en"}]},"item_type_id":"6","owner":"1","path":["453/455","471/561/562"],"pubdate":{"attribute_name":"\u516c\u958b\u65e5","attribute_value":"2014-05-22"},"publish_date":"2014-05-22","publish_status":"0","recid":"5423","relation_version_is_last":true,"title":["A Novel KCNQ1 Missense Mutation Identified in a Patient with Juvenile-Onset Atrial Fibrillation Causes Constitutively Open IKs Channels"],"weko_creator_id":"1","weko_shared_id":2},"updated":"2021-03-01T08:11:40.537531+00:00"}