The utility of zebrafish cardiac arrhythmia model to predict the pathogenicity of KCNQ1 variants

Genetic testing for inherited arrhythmias and discriminating pathogenic or benign variants from variants of unknown significance (VUS) is essential for gene-based medicine. KCNQ1 is a causative gene of type 1 long QT syndrome (LQTS), and approximately 30% of the variants found in type 1 LQTS are cla...

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Veröffentlicht in:	Journal of molecular and cellular cardiology 2023-04, Vol.177, p.50-61
Hauptverfasser:	Cui, Shihe, Hayashi, Kenshi, Kobayashi, Isao, Hosomichi, Kazuyoshi, Nomura, Akihiro, Teramoto, Ryota, Usuda, Keisuke, Okada, Hirofumi, Deng, Yaowen, Kobayashi-Sun, Jingjing, Nishikawa, Tetsuo, Furusho, Hiroshi, Saito, Takekatsu, Hirase, Hiroaki, Ohta, Kunio, Fujimoto, Manabu, Horita, Yuki, Kusayama, Takashi, Tsuda, Toyonobu, Tada, Hayato, Kato, Takeshi, Usui, Soichiro, Sakata, Kenji, Fujino, Noboru, Tajima, Atsushi, Yamagishi, Masakazu, Takamura, Masayuki
Format:	Artikel
Sprache:	eng
Schlagworte:	Action potential duration Animals CRISPR/Cas9 Humans KCNQ1 KCNQ1 Potassium Channel - genetics Long QT syndrome Long QT Syndrome - genetics Mutation RNA, Complementary Variants of unknown significance Virulence Zebrafish Zebrafish - genetics
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