Cardiac manifestations of human ACTA2 variants recapitulated in a zebrafish model

Abstract excerpt

The ACTA2 gene encodes actin α2, a major smooth muscle protein in vascular smooth muscle cells. Missense variants in the ACTA2 gene can cause inherited thoracic aortic diseases with characteristic symptoms, such as dysfunction of smooth muscle cells in the lungs, brain vessels, intestines, pupils, bladder, or heart. We identified a heterozygous missense variant of Gly148Arg (G148R) in a patient with a thoracic...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Aortic Disease and Treatment Approaches
• Share to Congenital heart defects research
• Share to Connective tissue disorders research