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Mark Pepin MD, PhD, FESC

@MarkEPepin

Cardiology @StanCVFellows | Dad x 4 | CVD Epigenetics & Metabolism | @BrighamMedRes ‘24 | @AvHStiftung '22 | @UABMSTP '20 | @ucdavis BME '13 | Clemson '11
Stanford, CA profiles.stanford.edu/mark-pepin?tab… Joined September 2011
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Mark Pepin MD, PhD, FESC @MarkEPepin
PREPRINT: We used a clinical FFPE section of human aortic tissue to implicate a rare variant in the ACTA2 gene at single-cell resolution, inspired by a young - otherwise healthy - individual who initially presented to us with a dissected aortic aneurysm. medrxiv.org/content/10.110…
www.medrxiv.org Dysregulated smooth muscle cell proliferation and gene expression underlie ACTA2 variant-associated... Pathogenic variants affecting alpha-2 smooth muscle actin (ACTA2) account for approximately 20% of non-syndromic familial thoracic aortic aneurysms (TAA) and confer a high risk of dissection;...