Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.

By R. Trembath, J. Thomson, R. Machado, N. Morgan, C. Atkinson, I. Winship, G. Simonneau, N. Galiè, J. Loyd, M. Humbert and 7 more. New England Journal of Medicine, 2001

703 citations recorded by the source corpus.

Subfields: Genetics, Molecular Biology, Pulmonary and Respiratory Medicine

View Paper: https://www.semanticscholar.org/paper/13972d4aa93ba00c148c4268182d762efd2fca9a

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In Molecular Biology

In Pulmonary and Respiratory Medicine

G. Simonneau

Citations in the corpus

Mechanisms of disease: pulmonary arterial hypertension (2011, background): “[76] [77] [78] To date, more than 140 distinct mutations have been identified in BMPR2 in patients with IPAH. Moreover, mutations in the gene for type I TGF-β superfamily receptor ALK-1 have been linked with severe PAH development in families with hereditary hemorrhagic telangiectasia.”
Cellular and Molecular Basis of Pulmonary Arterial Hypertension (2009, background): “This important finding might provide a mechanism for the rare occurrence of severe PAH in some families with hereditary hemorrhagic telangiectasia due to ALK-1 mutations (82).”
Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era (2015, background): “Endoglin (ENG, chromosome 9q34), activin A receptor type II-like 1 (ACVRL1/ALK1, chromosome 12q13), and SMAD4 (chromosome 18q21) mutations cause HHT1 (OMIM 187300), HHT2 (OMIM 600376), and the combined Juvenile Polyposis/HHT (JP/HHT) syndrome (OMIM 175050), respectively (Shovlin et al., 1994; Johnso”
Pulmonary arterial hypertension (2013, background): “Trembath et al.(75) have recently identified amino acid changes in ALK-1 in patients with pulmonary hypertension associated with hereditary hemorrhagic telangiectasia, which might result in unopposed TGFsignaling through ALK-5 and endothelial cell proliferation.”
Cellular and molecular pathobiology of pulmonary arterial hypertension. (2004, background): “Indeed, mutations in the TGFreceptors, ALK-1 and endoglin, have been identified in PAH patients with a personal or family history of hereditary hemorrhagic telangiectasia ( 38 ,39).”