Hugh G Calkins

Desmoplakin mutations in cardiac fibroblasts cause TGF?1-mediated pathological fibrogenesis in desmoplakin cardiomyopathy via beclin-1 regulation

This study shows that DSP mutations in cardiac fibroblasts enhance TGFβ1-induced fibrosis by disrupting beclin-1 regulation and autophagy, leading to excessive collagen accumulation and fibrotic gene activation.

Loss-of-Function FLNC Variants are Associated with Arrhythmogenic Cardiomyopathy Phenotypes when Identified through Exome Sequencing of a General Clinical Population

The paper identifies FLNC loss-of-function variants in a clinical population and finds they are associated with increased odds of arrhythmogenic cardiomyopathy phenotypes.