Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity

Congenital long QT syndrome (LQTS) is an inherited channelopathy associated with life-threatening arrhythmias. LQTS type 2 (LQT2) is caused by mutations in KCNH2, which encodes the potassium channel hERG. We hypothesized that modifier genes are partly responsible for the variable phenotype severity...

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Veröffentlicht in:	The Journal of clinical investigation 2018-03, Vol.128 (3), p.1043-1056
Hauptverfasser:	Chai, Sam, Wan, Xiaoping, Ramirez-Navarro, Angelina, Tesar, Paul J, Kaufman, Elizabeth S, Ficker, Eckhard, George, Jr, Alfred L, Deschênes, Isabelle
Format:	Artikel
Sprache:	eng
Schlagworte:	Action potential Biomedical research Cardiac arrhythmia Cardiomyocytes Care and treatment Channelopathy Comparative analysis Development and progression Discordance Electrocardiography Gene expression Genetic analysis Genetic aspects Genome editing Genomic analysis Genotypes GTP-binding protein Health aspects Kinases Long QT syndrome Mutation Phenotypes Pluripotency Potassium channels Stem cells Therapeutic applications
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