Heterozygous germline mutations in BMPR2, encoding a TGF-β receptor, cause familial primary pulmonary hypertension

By K. Lane, R. Machado, M. Pauciulo, J. Thomson, J. Phillips, J. Loyd, W. Nichols, R. Trembath. Nature Genetics, 2000

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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).”
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): “Mutations in the BMPR2 gene have been found in 70% of families with PAH (73,74).”
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”
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.”