Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension

Abstract excerpt

Heterozygous germline mutations of BMPR2 contribute to familial clustering of pulmonary arterial hypertension (PAH). To further explore the genetic basis of PAH in isolated cases, we undertook a candidate gene analysis to identify potentially deleterious variation. Members of the bone morphogenetic protein (BMP) pathway, namely SMAD1, SMAD4, SMAD5, and SMAD9, were screened by direct sequencing for gene defects....

Topics

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

• Share to Pulmonary Hypertension Research and Treatments