Role of Forkhead box F1 in the Pathobiology of Pulmonary Arterial Hypertension.

Approximately 80% of patients with non-familial pulmonary arterial hypertension (PAH) lack identifiable pathogenic genetic variants. While most genetic studies of PAH have focused on predicted loss-of-function variants, recent approaches have identified ultra-rare missense variants associated with the disease. We identified a rare Three independent, international, multicenter cohorts were analyzed to evaluate the frequency of Seven novel or ultra-rare missense coding variants were identified across three patient cohorts in different regions of the Large genomic and transcriptomic datasets suggest that decreased