A novel mutation in KCNH2 yields loss-of-function of hERG potassium channel in long QT syndrome 2.

Gu, Kai; Qian, Duoduo; Qin, Huiyuan; Cui, Chang; Fernando, W C Hewith A; Wang, Daowu; Wang, Juejin; Cao, Kejiang; Chen, Minglong

Gu, Kai; Qian, Duoduo; Qin, Huiyuan; Cui, Chang; Fernando, W C Hewith A; Wang, Daowu; Wang, Juejin; Cao, Kejiang; Chen, Minglong.

Afiliação

Gu K; Department of Cardiology, The First Affiliated Hospital of Nanjing Medical University, 300 Guangzhou Road, Nanjing, 210029, China.
Qian D; Department of Cardiology, The First Affiliated Hospital of Nanjing Medical University, 300 Guangzhou Road, Nanjing, 210029, China.
Qin H; Department of Cardiology, The First Affiliated Hospital of Nanjing Medical University, 300 Guangzhou Road, Nanjing, 210029, China.
Cui C; Department of Cardiology, The First Affiliated Hospital of Nanjing Medical University, 300 Guangzhou Road, Nanjing, 210029, China.
Fernando WCHA; Department of Physiology, Nanjing Medical University, 101 Longmian Ave, Nanjing, 211166, China.
Wang D; Department of Cardiology, The First Affiliated Hospital of Nanjing Medical University, 300 Guangzhou Road, Nanjing, 210029, China.
Wang J; State Key Laboratory of Reproductive Medicine, the Centre for Clinical Reproductive Medicine, The First Affiliated Hospital of Nanjing Medical University, Nanjing, 210029, China.
Cao K; Department of Physiology, Nanjing Medical University, 101 Longmian Ave, Nanjing, 211166, China. juejinwang@njmu.edu.cn.
Chen M; Department of Cardiology, The First Affiliated Hospital of Nanjing Medical University, 300 Guangzhou Road, Nanjing, 210029, China. kjcao@njmu.edu.cn.

Pflugers Arch ; 473(2): 219-229, 2021 02.

Article em En | MEDLINE | ID: mdl-33449212

Assuntos

Canal de Potássio ERG1/genética; Síndrome do QT Longo/genética; Mutação com Perda de Função; Potenciais de Ação; Canal de Potássio ERG1/metabolismo; Predisposição Genética para Doença; Células HEK293; Frequência Cardíaca; Humanos; Síndrome do QT Longo/metabolismo; Síndrome do QT Longo/fisiopatologia; Modelos Cardiovasculares; Fenótipo; Fatores de Tempo

Palavras-chave

Electrophysiology; Long QT syndrome 2; Mutation; hERG channel

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome do QT Longo / Canal de Potássio ERG1 / Mutação com Perda de Função Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Pflugers Arch Ano de publicação: 2021 Tipo de documento: Article País de afiliação: China

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