Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene.

By Z. Deng, J. Morse, S. Slager, N. Cuervo, K. J. Moore, George Venetos, S. Kalachikov, E. Cayanis, Stuart G. Fischer, R. Barst and 2 more. American Journal of Human Genetics, 2000

1,226 citations recorded by the source corpus.

Subfields: Oncology, Pulmonary and Respiratory Medicine

View Paper: https://www.semanticscholar.org/paper/761ba3bc2327301f97eea2432b70e312c77edd10

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In Oncology

1. G. Mundy
2. K. Miyazono
3. R. Weinberg

In Pulmonary and Respiratory Medicine

1. G. Simonneau

Citations in the corpus

• Molecular pathogenesis of pulmonary arterial hypertension. (2008, background): “Genetics of PAH: BMPR2 and other TGF-β family members Genetic studies have demonstrated that 70% or more of patients with hereditary PAH (24, 25), and 10%–20% of patients with sporadic IPAH, are heterozygous for a mutation in bone morphogenetic protein (BMP) receptor type 2 (BMPR2).”
• Pulmonary arterial hypertension (2013, background): “Finally, the advances in our understanding of the pathogenesis of PAH will eventually lead to the development of novel approaches focusing directly on abnormal proliferation of endothelial cells154 or regression of established pulmonary vascular remodelling.155–157 Genes for prostacyclin synthase an”
• Pediatric Pulmonary Hypertension: Guidelines From the American Heart Association and American Thoracic Society (2015, background): “Two groups independently and simultaneously identified BMPR2 as the primary pulmonary hypertension gene.(151) A mutation in BMPR2 can be identified in ≈70% of HPAH and ≈10% to 40% of IPAH cases.”
• BMP receptor signaling: transcriptional targets, regulation of signals, and signaling cross-talk. (2005, background): “Truncations of BMPR-II in the C-terminal tail were found in some familial PPH patients [7,8], suggesting important roles of this region in BMP signaling.”
• 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.”
• Bone Morphogenetic Proteins (2004, background): “genotyping multiple families with this disorder, BMPR-II mutations have been found in these patients (Lane et al., 2000; Deng et al., 2000; Newman et al., 2001).”