Article
The utility of zebrafish cardiac arrhythmia model to predict the pathogenicity of KCNQ1 variants.
Journal of molecular and cellular cardiology - 1 Apr 2023
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
Abstract excerpt
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 classified as VUS. We studied the role of zebrafish cardiac arrhythmia model in determining the clinical significance...
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