Article
Genetic basis of pulmonary arterial hypertension: current understanding and future directions.
Journal of the American College of Cardiology - 16 Jun 2004
Newman John H, Trembath Richard C, Morse Jane A, Grunig Ekkehard, Loyd James E, Adnot Serge, Coccolo Fabio, Ventura Carlo, Phillips John A, Knowles James A, Janssen Bart, Eickelberg Oliver, Eddahibi Saadia, Herve Phillipe, Nichols William C, Elliott Gregory
Abstract excerpt
Mutations in two receptors of the transforming growth factor-beta family have recently been shown to be present in the majority of cases of inherited (familial) pulmonary arterial hypertension (PAH). Study of the biology of these receptors, bone morphogenetic protein receptor type-2 (BMPR2), and activin-like kinase type-1 (ALK-1) will certainly reveal pathogenic mechanisms of disease. Exonic mutations in BMPR2...
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