Rare Loss-of-Function Mutations of PTGIR identified in Fibromuscular Dysplasia and Spontaneous Coronary Artery Dissection
Adrien B. Georges, Juliette Albuisson, Takiy-Eddine Berrandou, Délia Dupré, Aurélien Lorthioir, Valentina d’Escamard, Antonio Di Narzo, Daniella L. Kadian‐Dodov, Jeffrey W. Olin, Ewa Warchoł-Celińska, Aleksander Prejbisz, Andrzej Januszewicz, Patrick Bruneval, Anna Baranowska, Tom R. Webb, , Nabila Bouatia‐Naji
The paper identifies rare loss-of-function mutations in PTGIR in FMD and SCAD patients, showing impaired prostacyclin receptor function and suggesting a role for prostacyclin signaling in these diseases.
Cardiovascular Research · Jun 7, 2020Peer-reviewedGenetic & Genomic Medicine