Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases.

Hayashi, Kenshi; Teramoto, Ryota; Nomura, Akihiro; Asano, Yoshihiro; Beerens, Manu; Kurata, Yasutaka; Kobayashi, Isao; Fujino, Noboru; Furusho, Hiroshi; Sakata, Kenji; Onoue, Kenji; Chiang, David Y; Kiviniemi, Tuomas O; Buys, Eva; Sips, Patrick; Burch, Micah L; Zhao, Yanbin; Kelly, Amy E; Namura, Masanobu; Kita, Yoshihito; Tsuchiya, Taketsugu; Kaku, Bunji; Oe, Kotaro; Takeda, Yuko; Konno, Tetsuo; Inoue, Masaru; Fujita, Takashi; Kato, Takeshi; Funada, Akira; Tada, Hayato; Hodatsu, Akihiko; Nakanishi, Chiaki; Sakamoto, Yuichiro; Tsuda, Toyonobu; Nagata, Yoji; Tanaka, Yoshihiro; Okada, Hirofumi; Usuda, Keisuke; Cui, Shihe; Saito, Yoshihiko; MacRae, Calum A; Takashima, Seiji; Yamagishi, Masakazu; Kawashiri, Masa-Aki; Takamura, Masayuki

Hayashi, Kenshi; Teramoto, Ryota; Nomura, Akihiro; Asano, Yoshihiro; Beerens, Manu; Kurata, Yasutaka; Kobayashi, Isao; Fujino, Noboru; Furusho, Hiroshi; Sakata, Kenji; Onoue, Kenji; Chiang, David Y; Kiviniemi, Tuomas O; Buys, Eva; Sips, Patrick; Burch, Micah L; Zhao, Yanbin; Kelly, Amy E; Namura, Masanobu; Kita, Yoshihito; Tsuchiya, Taketsugu; Kaku, Bunji; Oe, Kotaro; Takeda, Yuko; Konno, Tetsuo; Inoue, Masaru; Fujita, Takashi; Kato, Takeshi; Funada, Akira; Tada, Hayato; Hodatsu, Akihiko; Nakanishi, Chiaki; Sakamoto, Yuichiro; Tsuda, Toyonobu; Nagata, Yoji; Tanaka, Yoshihiro; Okada, Hirofumi; Usuda, Keisuke; Cui, Shihe; Saito, Yoshihiko; MacRae, Calum A; Takashima, Seiji; Yamagishi, Masakazu; Kawashiri, Masa-Aki; Takamura, Masayuki.

Afiliação

Hayashi K; Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, 13-1, Takara-machi, Kanazawa, Ishikawa 920-8641, Japan.
Teramoto R; Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, 13-1, Takara-machi, Kanazawa, Ishikawa 920-8641, Japan.
Nomura A; Division of Cardiovascular Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Asano Y; Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, 13-1, Takara-machi, Kanazawa, Ishikawa 920-8641, Japan.
Beerens M; Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Suita, Japan.
Kurata Y; Division of Cardiovascular Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Kobayashi I; Department of Physiology, Kanazawa Medical University, Uchinada, Japan.
Fujino N; Faculty of Biological Science and Technology, Institute of Science and Engineering, Kanazawa University, Kanazawa, Japan.
Furusho H; Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, 13-1, Takara-machi, Kanazawa, Ishikawa 920-8641, Japan.
Sakata K; Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, 13-1, Takara-machi, Kanazawa, Ishikawa 920-8641, Japan.
Onoue K; Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, 13-1, Takara-machi, Kanazawa, Ishikawa 920-8641, Japan.
Chiang DY; Cardiovascular Medicine, Nara Medical University, Kashihara, Japan.
Kiviniemi TO; Division of Cardiovascular Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Buys E; Division of Cardiovascular Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Sips P; Division of Cardiovascular Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Burch ML; Division of Cardiovascular Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Zhao Y; Center for Medical Genetics Ghent, Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Kelly AE; Division of Cardiovascular Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Namura M; Division of Cardiovascular Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Kita Y; Division of Cardiovascular Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Tsuchiya T; Department of Cardiology, Kanazawa Cardiovascular Hospital, Kanazawa, Japan.
Kaku B; Department of Internal Medicine, Wajima Municipal Hospital, Wajima, Japan.
Oe K; Trans-catheter Cardiovascular Therapeutics, Kanazawa Medical University, Uchinada, Japan.
Takeda Y; Division of Cardiovascular Medicine, Toyama Red Cross Hospital, Toyama, Japan.
Konno T; Division of Internal Medicine, Saiseikai Kanazawa Hospital, Kanazawa, Japan.
Inoue M; Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, 13-1, Takara-machi, Kanazawa, Ishikawa 920-8641, Japan.
Fujita T; Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, 13-1, Takara-machi, Kanazawa, Ishikawa 920-8641, Japan.
Kato T; Department of Cardiology, Ishikawa Prefectural Central Hospital, Kanazawa, Japan.
Funada A; Division of Cardiology, Kouseiren Takaoka Hospital, Takaoka, Japan.
Tada H; Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, 13-1, Takara-machi, Kanazawa, Ishikawa 920-8641, Japan.
Hodatsu A; Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, 13-1, Takara-machi, Kanazawa, Ishikawa 920-8641, Japan.
Nakanishi C; Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, 13-1, Takara-machi, Kanazawa, Ishikawa 920-8641, Japan.
Sakamoto Y; Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, 13-1, Takara-machi, Kanazawa, Ishikawa 920-8641, Japan.
Tsuda T; Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, 13-1, Takara-machi, Kanazawa, Ishikawa 920-8641, Japan.
Nagata Y; Division of Cardiology, Toyohashi Heart Center, Toyohashi, Japan.
Tanaka Y; Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, 13-1, Takara-machi, Kanazawa, Ishikawa 920-8641, Japan.
Okada H; Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, 13-1, Takara-machi, Kanazawa, Ishikawa 920-8641, Japan.
Usuda K; Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, 13-1, Takara-machi, Kanazawa, Ishikawa 920-8641, Japan.
Cui S; Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, 13-1, Takara-machi, Kanazawa, Ishikawa 920-8641, Japan.
Saito Y; Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, 13-1, Takara-machi, Kanazawa, Ishikawa 920-8641, Japan.
MacRae CA; Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, 13-1, Takara-machi, Kanazawa, Ishikawa 920-8641, Japan.
Takashima S; Cardiovascular Medicine, Nara Medical University, Kashihara, Japan.
Yamagishi M; Division of Cardiovascular Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Kawashiri MA; Department of Medical Biochemistry, Osaka University Graduate School of Medicine, Suita, Japan.
Takamura M; Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, 13-1, Takara-machi, Kanazawa, Ishikawa 920-8641, Japan.

Cardiovasc Res ; 116(13): 2116-2130, 2020 11 01.

Article em En | MEDLINE | ID: mdl-31977013

Assuntos

Doença do Sistema de Condução Cardíaco/genética; Sequenciamento do Exoma; Variação Genética; Frequência Cardíaca/genética; Potenciais de Ação/genética; Adulto; Idade de Início; Idoso; Animais; Doença do Sistema de Condução Cardíaco/epidemiologia; Doença do Sistema de Condução Cardíaco/metabolismo; Doença do Sistema de Condução Cardíaco/fisiopatologia; Estudos de Casos e Controles; Simulação por Computador; Canal de Potássio ERG1/genética; Feminino; Frequência do Gene; Estudos de Associação Genética; Predisposição Genética para Doença; Humanos; Japão/epidemiologia; Lamina Tipo A/genética; Masculino; Proteínas de Membrana/genética; Pessoa de Meia-Idade; Modelos Cardiovasculares; Miócitos Cardíacos/metabolismo; Canal de Sódio Disparado por Voltagem NAV1.5/genética; Canal de Sódio Disparado por Voltagem NAV1.8/genética; Proteínas Nucleares/genética; Fenótipo; Valor Preditivo dos Testes; Medição de Risco; Fatores de Risco; Adulto Jovem; Peixe-Zebra/genética; Peixe-Zebra/metabolismo; Proteínas de Peixe-Zebra/genética; Proteínas de Peixe-Zebra/metabolismo

Palavras-chave

CRISPR/Cas9-mediated gene knock-out in zebrafish; 2015 ACMG standards and guidelines; Cardiac conduction system disease; Cellular electrophysiological study; Whole exome sequencing

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Doença do Sistema de Condução Cardíaco / Sequenciamento do Exoma / Frequência Cardíaca Tipo de estudo: Clinical_trials / Etiology_studies / Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies País/Região como assunto: Asia Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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