Class 1. Heritable Pulmonary Hypertension

Channelopathy Genes in Pulmonary Arterial Hypertension

Carrie L. Welch, Wendy K. ChungColumbia University Irving Medical Center.United States BiomoleculesBiomolecules 2022; 12: DOI: 10.3390/biom12020265 AbstractPulmonary arterial hypertension (PAH) is a rare, progressive vasculopathy with significant cardiopulmonary morbidity and mortality. The underlying pathogenetic mechanisms are heterogeneous and current therapies aim to decrease pulmonary vascular resistance but no curative treatments are available. Causal genetic variants can […]

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BMPR2 Mutation and Metabolic Reprogramming in Pulmonary Arterial Hypertension

Iona Cuthbertson, Nicholas W. Morrel, Paola CarusoUniversity of Cambridge School of Clinical MedicineUnited Kingdom Circulation ResearchCirc Res 2023; 132(1):109-126DOI: 10.1161/CIRCRESAHA.122.321554 AbstractPulmonary arterial hypertension forms the first and most severe of the 5 categories of pulmonary hypertension. Disease pathogenesis is driven by progressive remodeling of peripheral pulmonary arteries, caused by the excessive proliferation of vascular wall cells,

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An emerging phenotype of pulmonary arterial hypertension patients carrying SOX17 variants

David Montani, Benoit Lechartier, Barbara Girerd, Mélanie Eyries, Maria-Rosa Ghigna, Laurent Savale, Xavier Jaïs, Andrei Seferian, Mitja Jevnikar, Athénais Boucly, Marianne Riou, Julie Traclet, Ari Chaouat, Maryline Levy, Jerome LePavec, Elie Fadel, Frédéric Perros, Florent Soubrier, Martine Remy-Jardin, Olivier Sitbon, Damien Bonnet, Marc HumbertHôpitaux de Paris, Université Paris-Saclay, Hôpital Marie Lannelongue, Hôpital Pitié-Salpêtrière, Nouvel Hôpital

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