{"_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", "sets": ["455", "562"]}, "item_6_alternative_title_1": {"attribute_name": "その他のタイトル", "attribute_value_mlt": [{"subitem_alternative_title": "若年性心房細動患者に同定された新たなKCNQ1ミスセンス変異はIKsチャネルを持続的に開口させる"}]}, "item_6_biblio_info_6": {"attribute_name": "書誌情報", "attribute_value_mlt": [{"bibliographicIssueDates": {"bibliographicIssueDate": "2014-03-24", "bibliographicIssueDateType": "Issued"}, "bibliographicPageEnd": "30", "bibliographicPageStart": "1", "bibliographic_titles": [{}]}]}, "item_6_date_granted_51": {"attribute_name": "学位授与年月日", "attribute_value_mlt": [{"subitem_dategranted": "2014-03-24"}]}, "item_6_degree_grantor_49": {"attribute_name": "学位授与機関", "attribute_value_mlt": [{"subitem_degreegrantor": [{"subitem_degreegrantor_name": "新潟大学"}]}]}, "item_6_degree_name_48": {"attribute_name": "学位名", "attribute_value_mlt": [{"subitem_degreename": "博士（医学）"}]}, "item_6_description_4": {"attribute_name": "抄録", "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 \u003c50 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 –50 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 –130 and –40 mV, but smaller at test potentials between 20 and 50 mV. Moreover, WT/G229D-IKs resulted in a negative voltage shift for current activation (−35.2 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": "内容記述", "attribute_value_mlt": [{"subitem_description": "学位の種類: 博士（医学）. 報告番号: 甲第3861号. 学位記番号: 新大院博（医）甲第601号. 学位授与年月日: 平成26年3月24日", "subitem_description_type": "Other"}, {"subitem_description": "Heart Rhythm. 2014, 11(1), 67-75", "subitem_description_type": "Other"}]}, "item_6_description_53": {"attribute_name": "学位記番号", "attribute_value_mlt": [{"subitem_description": "新大院博（医）甲第601号", "subitem_description_type": "Other"}]}, "item_6_dissertation_number_52": {"attribute_name": "学位授与番号", "attribute_value_mlt": [{"subitem_dissertationnumber": "13101甲第3861号"}]}, "item_6_full_name_3": {"attribute_name": "著者別名", "attribute_value_mlt": [{"nameIdentifiers": [{"nameIdentifier": "50259", "nameIdentifierScheme": "WEKO"}], "names": [{"name": "長谷川, 奏恵"}]}]}, "item_6_publisher_7": {"attribute_name": "出版者", "attribute_value_mlt": [{"subitem_publisher": "新潟大学"}]}, "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": "権利", "attribute_value_mlt": [{"subitem_rights": "Copyright (C) 2013 Elsevier"}]}, "item_6_select_19": {"attribute_name": "著者版フラグ", "attribute_value_mlt": [{"subitem_select_item": "ETD"}]}, "item_creator": {"attribute_name": "著者", "attribute_type": "creator", "attribute_value_mlt": [{"creatorNames": [{"creatorName": "Hasegawa, Kanae"}], "nameIdentifiers": [{"nameIdentifier": "50258", "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": "2019-08-05"}], "displaytype": "detail", "download_preview_message": "", "file_order": 0, "filename": "h25nmk601.pdf", "filesize": [{"value": "1.7 MB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_free", "mimetype": "application/pdf", "size": 1700000.0, "url": {"label": "本文", "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", "download_preview_message": "", "file_order": 1, "filename": "h25nmk601_a.pdf", "filesize": [{"value": "202.0 kB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_free", "mimetype": "application/pdf", "size": 202000.0, "url": {"label": "要旨", "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": "キーワード", "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": "言語", "attribute_value_mlt": [{"subitem_language": "eng"}]}, "item_resource_type": {"attribute_name": "資源タイプ", "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": "タイトル", "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": ["455", "562"], "permalink_uri": "http://hdl.handle.net/10191/27327", "pubdate": {"attribute_name": "公開日", "attribute_value": "2014-05-22"}, "publish_date": "2014-05-22", "publish_status": "0", "recid": "5423", "relation": {}, "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_shared_id": 2}