ログイン
言語:

WEKO3

  • トップ
  • コミュニティ
  • ランキング
AND
To
lat lon distance
To

Field does not validate



インデックスリンク

インデックスツリー

メールアドレスを入力してください。

WEKO

One fine body…

WEKO

One fine body…

アイテム

{"_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 \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 \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", "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": "\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", "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": "\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"], "permalink_uri": "http://hdl.handle.net/10191/27327", "pubdate": {"attribute_name": "\u516c\u958b\u65e5", "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}
  1. 0 資料タイプ別
  2. 02 学位論文
  1. 250 大学院医歯学総合研究科(医)
  2. 60 博士学位論文
  3. 10 博士学位論文

A Novel KCNQ1 Missense Mutation Identified in a Patient with Juvenile-Onset Atrial Fibrillation Causes Constitutively Open IKs Channels

http://hdl.handle.net/10191/27327
89eb714d-ab1d-48fe-a817-2f9259f495a4
名前 / ファイル ライセンス アクション
h25nmk601.pdf 本文 (1.7 MB)
h25nmk601_a.pdf 要旨 (202.0 kB)
Item type 学位論文 / Thesis or Dissertation(1)
公開日 2014-05-22
タイトル
タイトル A Novel KCNQ1 Missense Mutation Identified in a Patient with Juvenile-Onset Atrial Fibrillation Causes Constitutively Open IKs Channels
タイトル
言語 en
タイトル A Novel KCNQ1 Missense Mutation Identified in a Patient with Juvenile-Onset Atrial Fibrillation Causes Constitutively Open IKs Channels
言語
言語 eng
キーワード
主題Scheme Other
主題 atrial fibrillation
キーワード
主題Scheme Other
主題 juvenile-onset atrial fibrillation
キーワード
主題Scheme Other
主題 ion channel
キーワード
主題Scheme Other
主題 Iks
キーワード
主題Scheme Other
主題 KCNQ1
資源タイプ
資源 http://purl.org/coar/resource_type/c_46ec
タイプ thesis
その他のタイトル
その他のタイトル 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
著者 Hasegawa, Kanae

× Hasegawa, Kanae

WEKO 50258

Hasegawa, Kanae

Search repository
著者別名
識別子
識別子 50259
識別子Scheme WEKO
姓名
姓名 長谷川, 奏恵
抄録
内容記述タイプ Abstract
内容記述 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 –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.
内容記述
内容記述タイプ Other
内容記述 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
内容記述
内容記述タイプ Other
内容記述 Heart Rhythm. 2014, 11(1), 67-75
書誌情報 p. 1-30, 発行日 2014-03-24
出版者
出版者 新潟大学
DOI
関連識別子
識別子タイプ DOI
関連識別子 info:doi/10.1016/j.hrthm.2013.09.073
権利
権利情報 Copyright (C) 2013 Elsevier
著者版フラグ
値 ETD
学位名
学位名 博士(医学)
学位授与機関
学位授与機関名
学位授与機関名 新潟大学
学位授与年月日
学位授与年月日 2014-03-24
学位授与番号
学位授与番号 13101甲第3861号
学位記番号
内容記述タイプ Other
内容記述 新大院博(医)甲第601号
戻る
0
views
See details
Views

Versions

Ver.1 2021-03-01 08:11:40.772470
Show All versions

Share

Mendeley CiteULike Twitter Facebook Print Addthis

Cite as

Export

OAI-PMH
  • OAI-PMH JPCOAR
  • OAI-PMH DublinCore
  • OAI-PMH DDI
Other Formats
  • JSON
  • BIBTEX

Confirm


Powered by CERN Data Centre & Invenio


Powered by CERN Data Centre & Invenio