Translation reinitiation in c.453delC frameshift mutation of KCNH2 producing functional hERG K+ channels with mild dominant negative effect in the heterozygote patient-derived iPSC cardiomyocytes.

Park, Na Kyeong; Park, Soon-Jung; Park, Yun-Gwi; Moon, Sung-Hwan; Woo, JooHan; Kim, Hyun Jong; Kim, Sung Joon; Choi, Seong Woo

Park, Na Kyeong; Park, Soon-Jung; Park, Yun-Gwi; Moon, Sung-Hwan; Woo, JooHan; Kim, Hyun Jong; Kim, Sung Joon; Choi, Seong Woo.

Afiliação

Park NK; Department of Physiology, Seoul National University College of Medicine, 103, Daehak-ro, Seoul 03080, Korea.
Park SJ; Stem Cell Research Institute, T&R Biofab Co. Ltd, 237, Sangidaehak-ro, Siheung 15073, Korea.
Park YG; Department of Animal Science and Technology, Chung-Ang University, 4726, Seodong-daero, Anseong 17546, Korea.
Moon SH; Department of Animal Science and Technology, Chung-Ang University, 4726, Seodong-daero, Anseong 17546, Korea.
Woo J; Department of Physiology, Dongguk University College of Medicine, 123, Dongdae-ro, Gyeongju 38066, Korea.
Kim HJ; Department of Physiology, Dongguk University College of Medicine, 123, Dongdae-ro, Gyeongju 38066, Korea.
Kim SJ; Department of Physiology, Seoul National University College of Medicine, 103, Daehak-ro, Seoul 03080, Korea.
Choi SW; Ischemic/Hypoxic Disease Institute, Seoul National University College of Medicine, 103, Daehak-ro, Seoul 03080, Korea.

Hum Mol Genet ; 33(2): 110-121, 2024 Jan 07.

Article em En | MEDLINE | ID: mdl-37769355

Assuntos

Células-Tronco Pluripotentes Induzidas; Síndrome do QT Longo; Humanos; Miócitos Cardíacos/metabolismo; Mutação da Fase de Leitura; Células-Tronco Pluripotentes Induzidas/metabolismo; Canais de Potássio Éter-A-Go-Go/genética; Canal de Potássio ERG1/genética; Canal de Potássio ERG1/metabolismo; Heterozigoto; Mutação; Síndrome do QT Longo/genética; Síndrome do QT Longo/metabolismo

Palavras-chave

KCNH2; frameshift mutation; iPSC-derived cardiomyocyte; long QT syndrome 2; translation reinitiation

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome do QT Longo / Células-Tronco Pluripotentes Induzidas Limite: Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2024 Tipo de documento: Article

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