Enhancer-associated aortic valve stenosis risk locus 1p21.2 alters NFATC2 binding site and promotes fibrogenesis
Arnaud Chignon, Mickaël Rosa, Marie‐Chloé Boulanger, Déborah Argaud, Romain Devillers, Valentin Bon-Baret, Ghada Mkannez, Zhonglin Li, Anne Rufiange, Nathalie Gaudreault, David Gosselin, Sébastien Thériault, Yohan Bossé, Patrick Mathieu
Abstract
was enriched in actin-based process. Mass spectrometry and functional assessment showed that PALMD is a regulator of actin polymerization. In turn, lower level of PALMD promoted the activation of myocardin-related transcription factor and fibrosis, a key pathobiological process underpinning CAVS.
Topics & Concepts
EnhancerWnt signaling pathwayLocus (genetics)Cell biologyBiologyMendelian randomizationTranscription factorChemistryGeneGeneticsSignal transductionGenetic variantsGenotypeCardiac Valve Diseases and TreatmentsCancer-related molecular mechanisms researchRNA modifications and cancer