Article
Isogenic models of hypertrophic cardiomyopathy unveil differential phenotypes and mechanism-driven therapeutics.
Journal of molecular and cellular cardiology - 1 Aug 2020
Bhagwan Jamie R, Mosqueira Diogo, Chairez-Cantu Karolina, Mannhardt Ingra, Bodbin Sara E, Bakar Mine, Smith James G W, Denning Chris
Abstract excerpt
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a prevalent and complex cardiovascular condition. Despite being strongly associated with genetic alterations, wide variation of disease penetrance, expressivity and hallmarks of progression complicate treatment. We aimed to characterize different human isogenic cellular models of HCM bearing patient-relevant mutations to clarify genetic causation and disease...
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