BMPR2

Summary

Gene Symbol: BMPR2
Description: bone morphogenetic protein receptor type 2
Alias: BMPR-II, BMPR3, BMR2, BRK-3, POVD1, PPH1, T-ALK, bone morphogenetic protein receptor type-2, BMP type II receptor, BMP type-2 receptor, bone morphogenetic protein receptor type II, bone morphogenetic protein receptor, type II (serine/threonine kinase), type II activin receptor-like kinase, type II receptor for bone morphogenetic protein-4
Species: human
Products:     BMPR2

Top Publications

  1. Elliott C, Glissmeyer E, Havlena G, Carlquist J, McKinney J, Rich S, et al. Relationship of BMPR2 mutations to vasoreactivity in pulmonary arterial hypertension. Circulation. 2006;113:2509-15 pubmed
    ..Mutations of the transforming growth factor-beta type II receptor gene, BMPR2, predispose to the development of pulmonary hypertension and may alter the response to vasodilators...
  2. Thomson J, Machado R, Pauciulo M, Morgan N, Humbert M, Elliott G, et al. Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family. J Med Genet. 2000;37:741-5 pubmed
    ..Mutations of the bone morphogenetic protein receptor type II gene (BMPR2), a component of the transforming growth factor beta (TGF-beta) family which plays ..
  3. Upton P, Davies R, Trembath R, Morrell N. Bone morphogenetic protein (BMP) and activin type II receptors balance BMP9 signals mediated by activin receptor-like kinase-1 in human pulmonary artery endothelial cells. J Biol Chem. 2009;284:15794-804 pubmed publisher
    ..This differential signaling may contribute to the contrasting pathologies of hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension. ..
  4. Davies R, Morrell N. Molecular mechanisms of pulmonary arterial hypertension: role of mutations in the bone morphogenetic protein type II receptor. Chest. 2008;134:1271-1277 pubmed publisher
    ..We discuss the ways in which manipulation of BMPR-II signaling might be targeted with the aim of preventing or reversing vascular remodeling and improving survival in patients with PAH. ..
  5. Girerd B, Montani D, Eyries M, Yaici A, Sztrymf B, Coulet F, et al. Absence of influence of gender and BMPR2 mutation type on clinical phenotypes of pulmonary arterial hypertension. Respir Res. 2010;11:73 pubmed publisher
    ..indicate that patients with pulmonary arterial hypertension (PAH) carrying a mutation in the bone morphogenetic protein receptor type 2 (BMPR2) gene, develop the disease 10 years earlier than non-carriers, and have a more severe ..
  6. Xia Y, Yu P, Sidis Y, Beppu H, Bloch K, Schneyer A, et al. Repulsive guidance molecule RGMa alters utilization of bone morphogenetic protein (BMP) type II receptors by BMP2 and BMP4. J Biol Chem. 2007;282:18129-40 pubmed
    ..These findings suggest that RGMa facilitates the use of ActRIIA by endogenous BMP2 and BMP4 ligands that otherwise prefer signaling via BMPRII and that increased utilization of ActRIIA leads to generation of an enhanced BMP signal. ..
  7. Neuman N, Ma S, Schnitzler G, Zhu Y, Lagna G, Hata A. The four-and-a-half LIM domain protein 2 regulates vascular smooth muscle phenotype and vascular tone. J Biol Chem. 2009;284:13202-12 pubmed publisher
    ..Finally, aortic rings from homozygous FHL2-null mice display abnormalities in both endothelial-dependent and -independent relaxation, suggesting that FHL2 is essential for the regulation of vasomotor tone. ..
  8. Wong W, Knowles J, Morse J. Bone morphogenetic protein receptor type II C-terminus interacts with c-Src: implication for a role in pulmonary arterial hypertension. Am J Respir Cell Mol Biol. 2005;33:438-46 pubmed
    Mutations of bone morphogenetic protein receptor type II (BMPR-II) have been associated with familial and idiopathic pulmonary arterial hypertension (PAH). BMPR-II is a member of the transforming growth factor-beta receptor superfamily...
  9. Sobolewski A, Rudarakanchana N, Upton P, Yang J, Crilley T, Trembath R, et al. Failure of bone morphogenetic protein receptor trafficking in pulmonary arterial hypertension: potential for rescue. Hum Mol Genet. 2008;17:3180-90 pubmed publisher
    ..We conclude that enhancement of cell-surface trafficking of mutant and wild-type BMPR-II may have therapeutic potential in familial PAH. ..

More Information

Publications67

  1. Nishihara A, Watabe T, Imamura T, Miyazono K. Functional heterogeneity of bone morphogenetic protein receptor-II mutants found in patients with primary pulmonary hypertension. Mol Biol Cell. 2002;13:3055-63 pubmed
    Germline mutations in the BMPR2 gene encoding bone morphogenetic protein (BMP) type II receptor (BMPR-II) have been reported in patients with primary pulmonary hypertension (PPH), but the contribution of various types of mutations found ..
  2. Nichols W, Koller D, Slovis B, Foroud T, Terry V, Arnold N, et al. Localization of the gene for familial primary pulmonary hypertension to chromosome 2q31-32. Nat Genet. 1997;15:277-80 pubmed
    ..97 at theta = 0 with the marker D2S389; multipoint linkage analysis yielded a maximum lod score of 7.86 with the marker D2S311. Haplotype analysis established a minimum candidate interval of approximately 25 cM. ..
  3. Liu D, Wu W, Mao Y, Yuan P, Zhang R, Ju F, et al. BMPR2 mutations influence phenotype more obviously in male patients with pulmonary arterial hypertension. Circ Cardiovasc Genet. 2012;5:511-8 pubmed publisher
    b>BMPR2 mutations predispose to idiopathic and heritable pulmonary arterial hypertension (IPAH and HPAH). The influence of BMPR2 mutations on clinical outcome is not concordant in different ethnic groups...
  4. Nohno T, Ishikawa T, Saito T, Hosokawa K, Noji S, Wolsing D, et al. Identification of a human type II receptor for bone morphogenetic protein-4 that forms differential heteromeric complexes with bone morphogenetic protein type I receptors. J Biol Chem. 1995;270:22522-6 pubmed
    ..Furthermore, a subpopulation of super-high affinity binding sites is formed in COS cells upon cotransfection only of BRK-2 + BRK-3, suggesting that the different heteromeric BMP receptor complexes have different signaling potential. ..
  5. Brock M, Trenkmann M, Gay R, Michel B, Gay S, Fischler M, et al. Interleukin-6 modulates the expression of the bone morphogenic protein receptor type II through a novel STAT3-microRNA cluster 17/92 pathway. Circ Res. 2009;104:1184-91 pubmed publisher
    Dysregulated expression of bone morphogenetic protein receptor type II (BMPR2) is a pathogenetic hallmark of pulmonary hypertension...
  6. Austin E, Loyd J, Phillips J. Genetics of pulmonary arterial hypertension. Semin Respir Crit Care Med. 2009;30:386-98 pubmed publisher
    ..Germline mutations in the gene coding bone morphogenetic receptor type 2 ( BMPR2) are detectable in the majority of cases of HPAH, and in a small proportion of cases of idiopathic pulmonary ..
  7. Ulrich S, Szamalek Hoegel J, Hersberger M, Fischler M, Garcia J, Huber L, et al. Sequence variants in BMPR2 and genes involved in the serotonin and nitric oxide pathways in idiopathic pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension: relation to clinical parameters and comparison with left heart d. Respiration. 2010;79:279-87 pubmed publisher
    ..b>BMPR2 mutations are important in the pathogenesis of IPAH, but little is known about the genetic background in CTEPH...
  8. Foletta V, Lim M, Soosairajah J, Kelly A, Stanley E, Shannon M, et al. Direct signaling by the BMP type II receptor via the cytoskeletal regulator LIMK1. J Cell Biol. 2003;162:1089-98 pubmed
    ..This study identifies the first function of the BMPR-II tail domain and suggests that the deregulation of actin dynamics may contribute to the etiology of PPH. ..
  9. Gangopahyay A, Oran M, Bauer E, Wertz J, Comhair S, Erzurum S, et al. Bone morphogenetic protein receptor II is a novel mediator of endothelial nitric-oxide synthase activation. J Biol Chem. 2011;286:33134-40 pubmed publisher
    ..BMP2 and BMP4 failed to stimulate eNOS phosphorylation in PAECs isolated from patients with mutations in the BMPR2 gene...
  10. Fujiwara M, Yagi H, Matsuoka R, Akimoto K, Furutani M, Imamura S, et al. Implications of mutations of activin receptor-like kinase 1 gene (ALK1) in addition to bone morphogenetic protein receptor II gene (BMPR2) in children with pulmonary arterial hypertension. Circ J. 2008;72:127-33 pubmed
    Mutations of the bone morphogenetic protein receptor II gene (BMPR2), and 1 mutation of the activin receptor-like kinase 1 gene (ALK1) have been reported in patients with pulmonary arterial hypertension (PAH)...
  11. Howe J, Sayed M, Ahmed A, Ringold J, Larsen Haidle J, Merg A, et al. The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. J Med Genet. 2004;41:484-91 pubmed
    ..A total of 77 JP cases were sequenced for mutations in the MADH4, BMPR1A, BMPR1B, BMPR2, and/or ACVR1 (activin A receptor) genes...
  12. Chan M, Nguyen P, Davis B, Ohoka N, Hayashi H, Du K, et al. A novel regulatory mechanism of the bone morphogenetic protein (BMP) signaling pathway involving the carboxyl-terminal tail domain of BMP type II receptor. Mol Cell Biol. 2007;27:5776-89 pubmed
    ..Thus, Trb3 is a critical component of a novel mechanism for regulation of the BMP pathway by BMPRII. ..
  13. Koehler R, Grunig E, Pauciulo M, Hoeper M, Olschewski H, Wilkens H, et al. Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension. J Med Genet. 2004;41:e127 pubmed
  14. Austin E, Cogan J, West J, Hedges L, Hamid R, Dawson E, et al. Alterations in oestrogen metabolism: implications for higher penetrance of familial pulmonary arterial hypertension in females. Eur Respir J. 2009;34:1093-9 pubmed publisher
    Mutations in bone morphogenetic protein receptor type 2 (BMPR2) cause familial pulmonary arterial hypertension (FPAH), but the penetrance is reduced and females are significantly overrepresented...
  15. Durrington H, Upton P, Hoer S, Boname J, Dunmore B, Yang J, et al. Identification of a lysosomal pathway regulating degradation of the bone morphogenetic protein receptor type II. J Biol Chem. 2010;285:37641-9 pubmed publisher
    ..Disruption of BMP signaling may therefore play a role in the pathobiology of diseases caused by KSHV infection, as well as KSHV-associated tumorigenesis and vascular disease. ..
  16. Rosenzweig E, Morse J, Knowles J, Chada K, Khan A, Roberts K, et al. Clinical implications of determining BMPR2 mutation status in a large cohort of children and adults with pulmonary arterial hypertension. J Heart Lung Transplant. 2008;27:668-74 pubmed publisher
    b>Bone morphogenetic protein receptor type 2 (BMPR2) mutations occur in idiopathic and familial pulmonary arterial hypertension (IPAH, FPAH); however, the impact of these mutations on clinical assessment and disease severity remains unclear...
  17. Star G, Giovinazzo M, Langleben D. ALK2 and BMPR2 knockdown and endothelin-1 production by pulmonary microvascular endothelial cells. Microvasc Res. 2013;85:46-53 pubmed publisher
    ..pulmonary arterial hypertension (PAH) are heritable and related to gene mutations in bone morphogenic receptor-2 (BMPR2)...
  18. Chen D, Zhao M, Mundy G. Bone morphogenetic proteins. Growth Factors. 2004;22:233-41 pubmed
    ..A significant advancement about the understanding of in vivo functions of BMP ligands, receptors and signaling molecules has been achieved in recent years. ..
  19. Morse J, Jones A, Barst R, Hodge S, Wilhelmsen K, Nygaard T. Mapping of familial primary pulmonary hypertension locus (PPH1) to chromosome 2q31-q32. Circulation. 1997;95:2603-6 pubmed
    ..We mapped the disease locus PPH1; GDB/HUGO designation (GDB:1381541; July 1996), approved when this work was accepted for publication in abstract ..
  20. De Caestecker M, Meyrick B. Bone morphogenetic proteins, genetics and the pathophysiology of primary pulmonary hypertension. Respir Res. 2001;2:193-7 pubmed
    ..In the present commentary we discuss the implications of these findings in the context of BMP receptor biology, and relate these data to the genetics and pulmonary pathophysiology of patients with PPH. ..
  21. Li W, Dunmore B, Morrell N. Bone morphogenetic protein type II receptor mutations causing protein misfolding in heritable pulmonary arterial hypertension. Proc Am Thorac Soc. 2010;7:395-8 pubmed publisher
    ..Restoration of cell surface expression of ligand-binding domain mutants leads to partial rescue of BMP signaling and suggests that small-molecule pharmacological chaperones may be a therapeutic option in these patients. ..
  22. Rosenzweig B, Imamura T, Okadome T, Cox G, Yamashita H, ten Dijke P, et al. Cloning and characterization of a human type II receptor for bone morphogenetic proteins. Proc Natl Acad Sci U S A. 1995;92:7632-6 pubmed
    ..and characterization of a human type II receptor for BMPs (BMPR-II), which is distantly related to DAF-4, a BMP type II receptor from Caenorhabditis elegans...
  23. Alastalo T, Li M, Perez V, Pham D, Sawada H, Wang J, et al. Disruption of PPAR?/?-catenin-mediated regulation of apelin impairs BMP-induced mouse and human pulmonary arterial EC survival. J Clin Invest. 2011;121:3735-46 pubmed publisher
    Reduced bone morphogenetic protein receptor 2 (BMPR2) expression in patients with pulmonary arterial hypertension (PAH) can impair pulmonary arterial EC (PAEC) function. This can adversely affect EC survival and promote SMC proliferation...
  24. Harrison R, Berger R, Haworth S, Tulloh R, Mache C, Morrell N, et al. Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood. Circulation. 2005;111:435-41 pubmed
    ..Adult-onset disease has previously been associated with mutations in BMPR2 and ALK-1. Presentation in early life may be associated with congenital heart disease but frequently is idiopathic...
  25. Hagen M, Fagan K, Steudel W, Carr M, Lane K, Rodman D, et al. Interaction of interleukin-6 and the BMP pathway in pulmonary smooth muscle. Am J Physiol Lung Cell Mol Physiol. 2007;292:L1473-9 pubmed
    ..arterial hypertension (PAH) cases are caused by mutations in the type 2 bone morphogenetic protein receptor (BMPR2)...
  26. Kim I, Lee D, Lee D, Ahn H, Kim M, Kim S, et al. Loss of expression of bone morphogenetic protein receptor type II in human prostate cancer cells. Oncogene. 2004;23:7651-9 pubmed
  27. Dewachter L, Adnot S, Guignabert C, Tu L, Marcos E, Fadel E, et al. Bone morphogenetic protein signalling in heritable versus idiopathic pulmonary hypertension. Eur Respir J. 2009;34:1100-10 pubmed publisher
    ..Most heterogeneous BMPR-2 mutations are associated with defective Smad signalling compensated for by an activation of p38MAPK signalling, accounting for PASMC proliferation and deficient apoptosis. ..
  28. Lane K, Machado R, Pauciulo M, Thomson J, Phillips J, Loyd J, et al. Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. Nat Genet. 2000;26:81-4 pubmed
    ..We now show that FPPH is caused by mutations in BMPR2, encoding a TGF-beta type II receptor (BMPR-II)...
  29. Deng Z, Morse J, Slager S, Cuervo N, Moore K, Venetos G, et al. Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. Am J Hum Genet. 2000;67:737-44 pubmed
    ..One of these genes (BMPR2), which encodes bone morphogenetic protein receptor type II, was found to contain five mutations that predict premature termination of the protein product ..
  30. Caldwell R, Gadipatti R, Lane K, Shepherd V. HIV-1 TAT represses transcription of the bone morphogenic protein receptor-2 in U937 monocytic cells. J Leukoc Biol. 2006;79:192-201 pubmed
    The bone morphogenetic protein receptor-2 (BMPR2) is a member of the transforming growth factor-beta receptor family and is expressed on the surface of several cell types including endothelial cells and macrophages...
  31. Liu Z, Shen J, Pu K, Katus H, Plöger F, Tiefenbacher C, et al. GDF5 and BMP2 inhibit apoptosis via activation of BMPR2 and subsequent stabilization of XIAP. Biochim Biophys Acta. 2009;1793:1819-27 pubmed publisher
    ..induced by serum starvation in mouse embryonic fibroblasts but not in smooth muscle cells via the BMP receptor 2 (BMPR2), which is often mutated in hereditary cases of primary pulmonary hypertension...
  32. Nasim M, Ghouri A, Patel B, James V, Rudarakanchana N, Morrell N, et al. Stoichiometric imbalance in the receptor complex contributes to dysfunctional BMPR-II mediated signalling in pulmonary arterial hypertension. Hum Mol Genet. 2008;17:1683-94 pubmed publisher
    ..NMD, providing further evidence that haplo-insufficiency is a major molecular consequence of disease-related BMPR2 mutations...
  33. Schwappacher R, Weiske J, Heining E, Ezerski V, Marom B, Henis Y, et al. Novel crosstalk to BMP signalling: cGMP-dependent kinase I modulates BMP receptor and Smad activity. EMBO J. 2009;28:1537-50 pubmed publisher
    ..cGKI, a key mediator of vasodilation and hypertension diseases, interacts with and phosphorylates the BMP type II receptor (BMPRII)...
  34. Machado R, James V, Southwood M, Harrison R, Atkinson C, Stewart S, et al. Investigation of second genetic hits at the BMPR2 locus as a modulator of disease progression in familial pulmonary arterial hypertension. Circulation. 2005;111:607-13 pubmed
    ..Heterozygous mutations in the gene encoding the bone morphogenetic protein receptor type II (BMPR2) have been identified in both familial (FPAH) and idiopathic PAH...
  35. Nishitoh H, Ichijo H, Kimura M, Matsumoto T, Makishima F, Yamaguchi A, et al. Identification of type I and type II serine/threonine kinase receptors for growth/differentiation factor-5. J Biol Chem. 1996;271:21345-52 pubmed
    ..These results suggest that BMPR-IB mediates certain signals for GDF-5 after forming the heteromeric complex with BMPR-II or ActR-II. ..
  36. Langenfeld E, Bojnowski J, Perone J, Langenfeld J. Expression of bone morphogenetic proteins in human lung carcinomas. Ann Thorac Surg. 2005;80:1028-32 pubmed
    ..Bone morphogenetic protein-2 is the predominant family member expressed in NSCLC. The BMP-2 is overexpressed in the majority of human lung carcinomas independent of cell type. ..
  37. Rudarakanchana N, Flanagan J, Chen H, Upton P, Machado R, Patel D, et al. Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertension. Hum Mol Genet. 2002;11:1517-25 pubmed
    ..of pulmonary vascular smooth muscle cells using green fluorescent protein (GFP)-tagged wild-type and mutant BMPR2 constructs and confocal microscopy to localize receptors...
  38. Langenfeld E, Calvano S, Abou Nukta F, Lowry S, Amenta P, Langenfeld J. The mature bone morphogenetic protein-2 is aberrantly expressed in non-small cell lung carcinomas and stimulates tumor growth of A549 cells. Carcinogenesis. 2003;24:1445-54 pubmed
    ..BMP-2 enhancement of tumor cell migration and invasion, as well as stimulating tumor growth in vivo, suggests it has important biological activity in lung carcinomas. ..
  39. Machado R, Rudarakanchana N, Atkinson C, Flanagan J, Harrison R, Morrell N, et al. Functional interaction between BMPR-II and Tctex-1, a light chain of Dynein, is isoform-specific and disrupted by mutations underlying primary pulmonary hypertension. Hum Mol Genet. 2003;12:3277-86 pubmed
    ..To further elucidate the consequences of BMPR2 mutation, we sought to characterize aspects of the cytoplasmic domain function by seeking intracellular binding ..
  40. West J, Fagan K, Steudel W, Fouty B, Lane K, Harral J, et al. Pulmonary hypertension in transgenic mice expressing a dominant-negative BMPRII gene in smooth muscle. Circ Res. 2004;94:1109-14 pubmed
    ..Studies with SM22-tet-BMPRII(delx4+) mice support the hypothesis that loss of BMPRII signaling in smooth muscle is sufficient to produce the pulmonary hypertensive phenotype. ..
  41. Grunig E, Weissmann S, Ehlken N, Fijalkowska A, Fischer C, Fourme T, et al. Stress Doppler echocardiography in relatives of patients with idiopathic and familial pulmonary arterial hypertension: results of a multicenter European analysis of pulmonary artery pressure response to exercise and hypoxia. Circulation. 2009;119:1747-57 pubmed publisher
    ..to stress and that this response is associated with mutations in the bone morphogenetic protein receptor II (BMPR2) gene...
  42. Hamid R, Cogan J, Hedges L, Austin E, Phillips J, Newman J, et al. Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele. Hum Mutat. 2009;30:649-54 pubmed publisher
    ..arterial hypertension (FPAH) is a progressive, fatal disease caused by mutations in the bone morphogenetic protein receptor type 2 gene (BMPR2)...
  43. Aldred M, Vijayakrishnan J, James V, Soubrier F, Gomez Sanchez M, Martensson G, et al. BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension. Hum Mutat. 2006;27:212-3 pubmed
    Mutations of the BMPR2 gene predispose to pulmonary arterial hypertension (PAH), a serious, progressive disease of the pulmonary vascular system...
  44. Pfarr N, Szamalek Hoegel J, Fischer C, Hinderhofer K, Nagel C, Ehlken N, et al. Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations. Respir Res. 2011;12:99 pubmed publisher
    Mutations in the bone morphogenetic protein receptor 2 (BMPR2) gene can lead to idiopathic pulmonary arterial hypertension (IPAH)...
  45. Machado R, Pauciulo M, Thomson J, Lane K, Morgan N, Wheeler L, et al. BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. Am J Hum Genet. 2001;68:92-102 pubmed
    ..Heterozygous mutations within the bone morphogenetic protein type II receptor (BMPR-II) gene (BMPR2), of the transforming growth factor beta (TGF-beta) cell-signaling superfamily, have been identified in familial ..
  46. Machado R, Aldred M, James V, Harrison R, Patel B, Schwalbe E, et al. Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension. Hum Mutat. 2006;27:121-32 pubmed
    ..Heterozygous mutations of a type II member of the TGF-beta cell signaling superfamily known as BMPR2 on chromosome 2q33 have been identified in many kindreds with FPAH, yet display both reduced penetrance and sex ..
  47. Nasim M, Ogo T, Ahmed M, Randall R, Chowdhury H, Snape K, et al. Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension. Hum Mutat. 2011;32:1385-9 pubmed publisher
    Heterozygous germline mutations of BMPR2 contribute to familial clustering of pulmonary arterial hypertension (PAH)...
  48. Sztrymf B, Coulet F, Girerd B, Yaici A, Jais X, Sitbon O, et al. Clinical outcomes of pulmonary arterial hypertension in carriers of BMPR2 mutation. Am J Respir Crit Care Med. 2008;177:1377-83 pubmed publisher
    Germline mutations in the gene encoding for bone morphogenetic protein receptor 2 (BMPR2) are a cause of pulmonary arterial hypertension (PAH)...
  49. Morrell N, Yang X, Upton P, Jourdan K, Morgan N, Sheares K, et al. Altered growth responses of pulmonary artery smooth muscle cells from patients with primary pulmonary hypertension to transforming growth factor-beta(1) and bone morphogenetic proteins. Circulation. 2001;104:790-5 pubmed
    ..We conclude that PASMCs from patients with PPH exhibit abnormal growth responses to TGF-beta(1) and BMPs and that altered integration of TGF-beta superfamily growth signals may contribute to the pathogenesis of PPH. ..
  50. Nohe A, Hassel S, Ehrlich M, Neubauer F, Sebald W, Henis Y, et al. The mode of bone morphogenetic protein (BMP) receptor oligomerization determines different BMP-2 signaling pathways. J Biol Chem. 2002;277:5330-8 pubmed
  51. Beppu H, Mwizerwa O, Beppu Y, Dattwyler M, Lauwers G, Bloch K, et al. Stromal inactivation of BMPRII leads to colorectal epithelial overgrowth and polyp formation. Oncogene. 2008;27:1063-70 pubmed
    ..We observed that conditional inactivation of the BMP type II receptor (BMPRII) in the stroma leads to epithelial hyperplasia throughout the colon with increased epithelial cell ..
  52. Johnson J, Vnencak Jones C, Cogan J, Loyd J, West J. Copy-number variation in BMPR2 is not associated with the pathogenesis of pulmonary arterial hypertension. BMC Med Genet. 2009;10:58 pubmed publisher
    ..CNV has been reported within intron 1 of the BMPR2 gene...
  53. Sztrymf B, Yaici A, Girerd B, Humbert M. Genes and pulmonary arterial hypertension. Respiration. 2007;74:123-32 pubmed
    ..Germline mutations in the gene coding for the bone morphogenetic protein receptor II (BMPR2) are present in more than 70% of FPAH and up to 26% of idiopathic, apparently sporadic cases (IPAH)...
  54. Liu F, Ventura F, Doody J, Massague J. Human type II receptor for bone morphogenic proteins (BMPs): extension of the two-kinase receptor model to the BMPs. Mol Cell Biol. 1995;15:3479-86 pubmed
    ..We report the identification and cloning of the BMP type II receptor (BMPR-II), a missing component of this receptor system in vertebrates...
  55. Portillo K, Santos S, Madrigal I, Blanco I, Pare C, Borderias L, et al. [Study of the BMPR2 gene in patients with pulmonary arterial hypertension]. Arch Bronconeumol. 2010;46:129-34 pubmed publisher
    Mutations of the gene that code bone morphogenic protein type 2 receptor (BMPR2) are involved in the pathogenesis of pulmonary arterial hypertension (PAH), both in its familial (FPAH) and its idiopathic (IPAH) forms...
  56. Phillips J, Poling J, Phillips C, Stanton K, Austin E, Cogan J, et al. Synergistic heterozygosity for TGFbeta1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertension. Genet Med. 2008;10:359-65 pubmed publisher
    We hypothesized that functional TGFbeta1 SNPs increase TGFbeta/BMP signaling imbalance in BMPR2 mutation heterozygotes to accelerate the age at diagnosis, increase the penetrance and SMAD2 expression in familial pulmonary arterial ..
  57. Pouliot F, Blais A, Labrie C. Overexpression of a dominant negative type II bone morphogenetic protein receptor inhibits the growth of human breast cancer cells. Cancer Res. 2003;63:277-81 pubmed
    ..These results suggest that BMPs interacting with type II BMP receptors contribute to the proliferation and/or survival of human breast cancer cells. ..
  58. Chida A, Shintani M, Yagi H, Fujiwara M, Kojima Y, Sato H, et al. Outcomes of childhood pulmonary arterial hypertension in BMPR2 and ALK1 mutation carriers. Am J Cardiol. 2012;110:586-93 pubmed publisher
    Mutations in the bone morphogenetic protein receptor type 2 (BMPR2) gene and the activin receptor-like kinase 1 (ALK1) gene have been reported in heritable pulmonary arterial hypertension (HPAH) and idiopathic pulmonary arterial ..