Article
Multi-omics integration identifies key upstream regulators of pathomechanisms in hypertrophic cardiomyopathy due to truncating MYBPC3 mutations.
Clinical epigenetics - 23 Mar 2021
Pei J, Schuldt M, Nagyova E, Gu Z, El Bouhaddani S, Yiangou L, Jansen M, Calis J J A, Dorsch L M, Blok C Snijders, van den Dungen N A M, Lansu N, Boukens B J, Efimov I R, Michels M, Verhaar M C, de Weger R, Vink A, van Steenbeek F G, Baas A F, Davis R P, Uh H W, Kuster D W D, Cheng C, Mokry M, van der Velden J, Asselbergs F W, Harakalova M
Abstract excerpt
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is the most common genetic disease of the cardiac muscle, frequently caused by mutations in MYBPC3. However, little is known about the upstream pathways and key regulators causing the disease. Therefore, we employed a multi-omics approach to study the pathomechanisms underlying HCM comparing patient hearts harboring MYBPC3 mutations to control hearts. RESULTS: Using...
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