Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-β family
By J. Thomson, R. Machado, M. Pauciulo, N. Morgan, M. Humbert, G. Elliott, K. Ward, Magdi S Yacoub, G. Mikhail, P. Rogers and 12 more. Journal of Medical Genetics, 2000
748 citations recorded by the source corpus.
Subfields: Molecular Biology, Pulmonary and Respiratory Medicine
View Paper: https://www.semanticscholar.org/paper/0625bab532a24a24fd97515df6e3136d2d8997ac
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In Molecular Biology
Citations in the corpus
- Cellular and Molecular Basis of Pulmonary Arterial Hypertension (2009, background): “In addition, up to 25% of patients with apparently sporadic IPAH harbor mutations (75).”
- Definitions and diagnosis of pulmonary hypertension. (2013, background): “Approximately 20% of patients with sporadic IPAH and 70% of patients with HPAH have a mutation in bone morphogenetic protein receptor 2 (BMPR2), and additional genes associated with HPAH have recently been identified (47,48), which raises the possibility of family screening (49).”