Arjan C. Houweling

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.

Mar 25, 2024 | nature.com | Anne Hebert |Arjan C. Houweling |Minna Kraatari-Tiri |Alan Lu |Stephen Oakley |Nicole Revencu | +5 more

AbstractPathogenic loss-of-function variants in BGN, an X-linked gene encoding biglycan, are associated with Meester-Loeys syndrome (MRLS), a thoracic aortic aneurysm/dissection syndrome. Since the initial publication of five probands in 2017, we have considerably expanded our MRLS cohort to a total of 18 probands (16 males and 2 females). Segregation analyses identified 36 additional BGN variant-harboring family members (9 males and 27 females).