Harm J Bogaard

Sep 22, 2024 | biorxiv.org | Jose Gomez-Arroyo |Arjan C. Houweling |Harm J Bogaard |Jurjan Aman

AbstractRationale: 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. FOXF1 encodes a highly conserved transcription factor, essential for angiogenesis and vasculogenesis in human and mouse lungs.