WEKO3
アイテム
{"_buckets": {"deposit": "3ff4a056-a743-428e-9583-027347b1cb20"}, "_deposit": {"created_by": 11, "id": "4142", "owners": [11], "pid": {"revision_id": 0, "type": "depid", "value": "4142"}, "status": "published"}, "_oai": {"id": "oai:shiga-med.repo.nii.ac.jp:00004142", "sets": ["84"]}, "author_link": ["8902", "8899", "8895", "8901", "8897", "7241", "1939", "2820", "8900", "7866", "8894", "8893", "8896", "297", "8054", "2814", "8898"], "item_4_biblio_info_6": {"attribute_name": "書誌情報", "attribute_value_mlt": [{"bibliographicIssueDates": {"bibliographicIssueDate": "2022-03-02", "bibliographicIssueDateType": "Issued"}, "bibliographicIssueNumber": "3", "bibliographicPageEnd": "510", "bibliographicPageStart": "497", "bibliographicVolumeNumber": "24", "bibliographic_titles": [{}, {"bibliographic_title": "Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology", "bibliographic_titleLang": "en"}]}]}, "item_4_creator_3": {"attribute_name": "著者別名", "attribute_type": "creator", "attribute_value_mlt": [{"creatorNames": [{"creatorName": "福山, 恵"}], "nameIdentifiers": [{"nameIdentifier": "2820", "nameIdentifierScheme": "WEKO"}, {"nameIdentifier": "60625771", "nameIdentifierScheme": "e-Rad", "nameIdentifierURI": "https://kaken.nii.ac.jp/ja/search/?qm=60625771"}]}, {"creatorNames": [{"creatorName": "和田, 悠子"}], "nameIdentifiers": [{"nameIdentifier": "7241", "nameIdentifierScheme": "WEKO"}, {"nameIdentifier": "90714874", "nameIdentifierScheme": "e-Rad", "nameIdentifierURI": "https://kaken.nii.ac.jp/ja/search/?qm=90714874"}, {"nameIdentifier": "0000-0001-8533-8040", "nameIdentifierScheme": "ORCID", "nameIdentifierURI": "https://orcid.org/0000-0001-8533-8040"}]}, {"creatorNames": [{"creatorName": "加藤, 浩一"}], "nameIdentifiers": [{"nameIdentifier": "2814", "nameIdentifierScheme": "WEKO"}, {"nameIdentifier": "70736983", "nameIdentifierScheme": "e-Rad", "nameIdentifierURI": "https://kaken.nii.ac.jp/ja/search/?qm=70736983"}, {"nameIdentifier": "0000-0002-6125-0789", "nameIdentifierScheme": "ORCID", "nameIdentifierURI": "https://orcid.org/0000-0002-6125-0789"}]}, {"creatorNames": [{"creatorName": "堀江, 稔"}], "nameIdentifiers": [{"nameIdentifier": "297", "nameIdentifierScheme": "WEKO"}, {"nameIdentifier": "90183938", "nameIdentifierScheme": "e-Rad", "nameIdentifierURI": "https://kaken.nii.ac.jp/ja/search/?qm=90183938"}, {"nameIdentifier": "0000-0002-9029-2339", "nameIdentifierScheme": "ORCID", "nameIdentifierURI": "https://orcid.org/0000-0002-9029-2339"}]}, {"creatorNames": [{"creatorName": "大野, 聖子"}], "nameIdentifiers": [{"nameIdentifier": "1939", "nameIdentifierScheme": "WEKO"}, {"nameIdentifier": "20610025", "nameIdentifierScheme": "e-Rad", "nameIdentifierURI": "https://kaken.nii.ac.jp/ja/search/?qm=20610025"}, {"nameIdentifier": "0000-0003-1209-8896", "nameIdentifierScheme": "ORCID", "nameIdentifierURI": "https://orcid.org/0000-0003-1209-8896"}]}]}, "item_4_description_4": {"attribute_name": "抄録", "attribute_value_mlt": [{"subitem_description": "Aims:\nGain-of-function mutations in RYR2, encoding the cardiac ryanodine receptor channel (RyR2), cause catecholaminergic polymorphic ventricular tachycardia (CPVT). Whereas, genotype-phenotype correlations of loss-of-function mutations remains unknown, due to a small number of analysed mutations. In this study, we aimed to investigate their genotype-phenotype correlations in patients with loss-of-function RYR2 mutations. ", "subitem_description_type": "Abstract"}, {"subitem_description": "Methods and results:\nWe performed targeted gene sequencing for 710 probands younger than 16-year-old with inherited primary arrhythmia syndromes (IPAS). RYR2 mutations were identified in 63 probands, and 3 probands displayed clinical features different from CPVT. A proband with p.E4146D developed ventricular fibrillation (VF) and QT prolongation whereas that with p.S4168P showed QT prolongation and bradycardia. Another proband with p.S4938F showed short-coupled variant of torsade de pointes (scTdP). To evaluate the functional alterations in these three mutant RyR2s and p.K4594Q previously reported in a long QT syndrome (LQTS), we measured Ca2+ signals in HEK293 cells and HL-1 cardiomyocytes as well as Ca2+-dependent [3H]ryanodine binding. All mutant RyR2s demonstrated a reduced Ca2+ release, an increased endoplasmic reticulum Ca2+, and a reduced [3H]ryanodine binding, indicating loss-of-functions. In HL-1 cells, the exogenous expression of S4168P and K4594Q reduced amplitude of Ca2+ transients without inducing Ca2+ waves, whereas that of E4146D and S4938F evoked frequent localized Ca2+ waves. ", "subitem_description_type": "Abstract"}, {"subitem_description": "Conclusion:\nLoss-of-function RYR2 mutations may be implicated in various types of arrhythmias including LQTS, VF, and scTdP, depending on alteration of the channel activity. Search of RYR2 mutations in IPAS patients clinically different from CPVT will be a useful strategy to effectively discover loss-of-function RYR2 mutations. ", "subitem_description_type": "Abstract"}]}, "item_4_description_42": {"attribute_name": "資源タイプ", "attribute_value_mlt": [{"subitem_description": "Journal Article", "subitem_description_type": "Other"}]}, "item_4_publisher_32": {"attribute_name": "出版者", "attribute_value_mlt": [{"subitem_publisher": "Oxford University Press"}]}, "item_4_relation_10": {"attribute_name": "PubMed番号", "attribute_value_mlt": [{"subitem_relation_type_id": {"subitem_relation_type_id_text": "34661651", "subitem_relation_type_select": "PMID"}}]}, "item_4_relation_11": {"attribute_name": "DOI", "attribute_value_mlt": [{"subitem_relation_name": [{"subitem_relation_name_text": "10.1093/europace/euab250"}], "subitem_relation_type_id": {"subitem_relation_type_id_text": "https://doi.org/10.1093/europace/euab250", "subitem_relation_type_select": "DOI"}}]}, "item_4_rights_12": {"attribute_name": "権利", "attribute_value_mlt": [{"subitem_rights": "© The Author(s) 2021."}]}, "item_4_source_id_7": {"attribute_name": "ISSN", "attribute_value_mlt": [{"subitem_source_identifier": "1532-2092", "subitem_source_identifier_type": "ISSN"}]}, "item_access_right": {"attribute_name": "アクセス権", "attribute_value_mlt": [{"subitem_access_right": "metadata only access", "subitem_access_right_uri": "http://purl.org/coar/access_right/c_14cb"}]}, "item_creator": {"attribute_name": "著者", "attribute_type": "creator", "attribute_value_mlt": [{"creatorNames": [{"creatorName": "HIROSE, Sayako"}], "nameIdentifiers": [{"nameIdentifier": "8893", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "MURAYAMA, Takashi"}], "nameIdentifiers": [{"nameIdentifier": "8894", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "TETSUO, Naoyuki"}], "nameIdentifiers": [{"nameIdentifier": "8895", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "HOSHIAI, Minako"}], "nameIdentifiers": [{"nameIdentifier": "8896", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "KISE, Hiroaki"}], "nameIdentifiers": [{"nameIdentifier": "8897", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "YOSHINAGA, Masao"}], "nameIdentifiers": [{"nameIdentifier": "8898", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "AOKI, Hisaaki"}], "nameIdentifiers": [{"nameIdentifier": "8899", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "FUKUYAMA, Megumi"}], "nameIdentifiers": [{"nameIdentifier": "2820", "nameIdentifierScheme": "WEKO"}, {"nameIdentifier": "60625771", "nameIdentifierScheme": "e-Rad", "nameIdentifierURI": "https://kaken.nii.ac.jp/ja/search/?qm=60625771"}]}, {"creatorNames": [{"creatorName": "WURIYANGHAI, Yimin"}], "nameIdentifiers": [{"nameIdentifier": "8900", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "WADA, Yuko"}], "nameIdentifiers": [{"nameIdentifier": "7241", "nameIdentifierScheme": "WEKO"}, {"nameIdentifier": "90714874", "nameIdentifierScheme": "e-Rad", "nameIdentifierURI": "https://kaken.nii.ac.jp/ja/search/?qm=90714874"}, {"nameIdentifier": "0000-0001-8533-8040", "nameIdentifierScheme": "ORCID", "nameIdentifierURI": "https://orcid.org/0000-0001-8533-8040"}]}, {"creatorNames": [{"creatorName": "KATO, Koichi"}], "nameIdentifiers": [{"nameIdentifier": "2814", "nameIdentifierScheme": "WEKO"}, {"nameIdentifier": "70736983", "nameIdentifierScheme": "e-Rad", "nameIdentifierURI": "https://kaken.nii.ac.jp/ja/search/?qm=70736983"}, {"nameIdentifier": "0000-0002-6125-0789", "nameIdentifierScheme": "ORCID", "nameIdentifierURI": "https://orcid.org/0000-0002-6125-0789"}]}, {"creatorNames": [{"creatorName": "MAKIYAMA, Takeru"}], "nameIdentifiers": [{"nameIdentifier": "7866", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "KIMURA, Takeshi"}], "nameIdentifiers": [{"nameIdentifier": "8054", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "SAKURAI, Takashi"}], "nameIdentifiers": [{"nameIdentifier": "8901", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "HORIE, Minoru"}], "nameIdentifiers": [{"nameIdentifier": "297", "nameIdentifierScheme": "WEKO"}, {"nameIdentifier": "90183938", "nameIdentifierScheme": "e-Rad", "nameIdentifierURI": "https://kaken.nii.ac.jp/ja/search/?qm=90183938"}, {"nameIdentifier": "0000-0002-9029-2339", "nameIdentifierScheme": "ORCID", "nameIdentifierURI": "https://orcid.org/0000-0002-9029-2339"}]}, {"creatorNames": [{"creatorName": "KUREBAYASHI, Nagomi"}], "nameIdentifiers": [{"nameIdentifier": "8902", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "OHNO, Seiko"}], "nameIdentifiers": [{"nameIdentifier": "1939", "nameIdentifierScheme": "WEKO"}, {"nameIdentifier": "20610025", "nameIdentifierScheme": "e-Rad", "nameIdentifierURI": "https://kaken.nii.ac.jp/ja/search/?qm=20610025"}, {"nameIdentifier": "0000-0003-1209-8896", "nameIdentifierScheme": "ORCID", "nameIdentifierURI": "https://orcid.org/0000-0003-1209-8896"}]}]}, "item_keyword": {"attribute_name": "キーワード", "attribute_value_mlt": [{"subitem_subject": "RyR2", "subitem_subject_language": "en", "subitem_subject_scheme": "Other"}, {"subitem_subject": "Ryanodine receptor", "subitem_subject_language": "en", "subitem_subject_scheme": "Other"}, {"subitem_subject": "Ventricular fibrillation", "subitem_subject_language": "en", "subitem_subject_scheme": "Other"}, {"subitem_subject": "Arrhythmias", "subitem_subject_language": "en", "subitem_subject_scheme": "Other"}, {"subitem_subject": "QT prolongation", "subitem_subject_language": "en", "subitem_subject_scheme": "Other"}, {"subitem_subject": "Mutation", "subitem_subject_language": "en", "subitem_subject_scheme": "Other"}, {"subitem_subject": "Loss of function", "subitem_subject_language": "en", "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": "Loss-of-function mutations in cardiac ryanodine receptor channel cause various types of arrhythmias including long QT syndrome.", "item_titles": {"attribute_name": "タイトル", "attribute_value_mlt": [{"subitem_title": "Loss-of-function mutations in cardiac ryanodine receptor channel cause various types of arrhythmias including long QT syndrome."}]}, "item_type_id": "4", "owner": "11", "path": ["84"], "permalink_uri": "http://hdl.handle.net/10422/00013234", "pubdate": {"attribute_name": "公開日", "attribute_value": "2022-03-16"}, "publish_date": "2022-03-16", "publish_status": "0", "recid": "4142", "relation": {}, "relation_version_is_last": true, "title": ["Loss-of-function mutations in cardiac ryanodine receptor channel cause various types of arrhythmias including long QT syndrome."], "weko_shared_id": -1}
Loss-of-function mutations in cardiac ryanodine receptor channel cause various types of arrhythmias including long QT syndrome.
http://hdl.handle.net/10422/00013234
http://hdl.handle.net/10422/00013234e1369d2f-3987-4052-b661-fe396a0e4b99
Item type | 学術雑誌論文 / Journal Article(1) | |||||
---|---|---|---|---|---|---|
公開日 | 2022-03-16 | |||||
タイトル | ||||||
タイトル | Loss-of-function mutations in cardiac ryanodine receptor channel cause various types of arrhythmias including long QT syndrome. | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | RyR2 | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | Ryanodine receptor | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | Ventricular fibrillation | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | Arrhythmias | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | QT prolongation | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | Mutation | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | Loss of function | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | journal article | |||||
アクセス権 | ||||||
アクセス権 | metadata only access | |||||
アクセス権URI | http://purl.org/coar/access_right/c_14cb | |||||
著者 |
HIROSE, Sayako
× HIROSE, Sayako× MURAYAMA, Takashi× TETSUO, Naoyuki× HOSHIAI, Minako× KISE, Hiroaki× YOSHINAGA, Masao× AOKI, Hisaaki× FUKUYAMA, Megumi× WURIYANGHAI, Yimin× WADA, Yuko× KATO, Koichi× MAKIYAMA, Takeru× KIMURA, Takeshi× SAKURAI, Takashi× HORIE, Minoru× KUREBAYASHI, Nagomi× OHNO, Seiko |
|||||
著者別名 |
福山, 恵
× 福山, 恵× 和田, 悠子× 加藤, 浩一× 堀江, 稔× 大野, 聖子 |
|||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Aims: Gain-of-function mutations in RYR2, encoding the cardiac ryanodine receptor channel (RyR2), cause catecholaminergic polymorphic ventricular tachycardia (CPVT). Whereas, genotype-phenotype correlations of loss-of-function mutations remains unknown, due to a small number of analysed mutations. In this study, we aimed to investigate their genotype-phenotype correlations in patients with loss-of-function RYR2 mutations. |
|||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Methods and results: We performed targeted gene sequencing for 710 probands younger than 16-year-old with inherited primary arrhythmia syndromes (IPAS). RYR2 mutations were identified in 63 probands, and 3 probands displayed clinical features different from CPVT. A proband with p.E4146D developed ventricular fibrillation (VF) and QT prolongation whereas that with p.S4168P showed QT prolongation and bradycardia. Another proband with p.S4938F showed short-coupled variant of torsade de pointes (scTdP). To evaluate the functional alterations in these three mutant RyR2s and p.K4594Q previously reported in a long QT syndrome (LQTS), we measured Ca2+ signals in HEK293 cells and HL-1 cardiomyocytes as well as Ca2+-dependent [3H]ryanodine binding. All mutant RyR2s demonstrated a reduced Ca2+ release, an increased endoplasmic reticulum Ca2+, and a reduced [3H]ryanodine binding, indicating loss-of-functions. In HL-1 cells, the exogenous expression of S4168P and K4594Q reduced amplitude of Ca2+ transients without inducing Ca2+ waves, whereas that of E4146D and S4938F evoked frequent localized Ca2+ waves. |
|||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Conclusion: Loss-of-function RYR2 mutations may be implicated in various types of arrhythmias including LQTS, VF, and scTdP, depending on alteration of the channel activity. Search of RYR2 mutations in IPAS patients clinically different from CPVT will be a useful strategy to effectively discover loss-of-function RYR2 mutations. |
|||||
書誌情報 |
en : Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 巻 24, 号 3, p. 497-510, 発行日 2022-03-02 |
|||||
出版者 | ||||||
出版者 | Oxford University Press | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 1532-2092 | |||||
PMID | ||||||
識別子タイプ | PMID | |||||
関連識別子 | 34661651 | |||||
DOI | ||||||
識別子タイプ | DOI | |||||
関連識別子 | https://doi.org/10.1093/europace/euab250 | |||||
関連名称 | 10.1093/europace/euab250 | |||||
権利 | ||||||
権利情報 | © The Author(s) 2021. | |||||
資源タイプ | ||||||
内容記述タイプ | Other | |||||
内容記述 | Journal Article |