BMPR1A

Summary

Gene Symbol: BMPR1A
Description: bone morphogenetic protein receptor type 1A
Alias: 10q23del, ACVRLK3, ALK3, CD292, SKR5, bone morphogenetic protein receptor type-1A, ALK-3, BMP type-1A receptor, BMPR-1A, activin A receptor, type II-like kinase 3, activin receptor-like kinase 3, bone morphogenetic protein receptor, type IA, serine/threonine-protein kinase receptor R5
Species: human
Products:     BMPR1A

Top Publications

  1. ten Dijke P, Yamashita H, Sampath T, Reddi A, Estevez M, Riddle D, et al. Identification of type I receptors for osteogenic protein-1 and bone morphogenetic protein-4. J Biol Chem. 1994;269:16985-8 pubmed
    ..These results suggest that ALK-3 and ALK-6 are type I receptors for OP-1 and BMP-4; in addition, ALK-2 is a type I receptor shared by activin and OP-1, but not by BMP-4. ..
  2. 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. ..
  3. Kirsch T, Nickel J, Sebald W. Isolation of recombinant BMP receptor IA ectodomain and its 2:1 complex with BMP-2. FEBS Lett. 2000;468:215-9 pubmed
  4. 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
    ..We have identified mutations in two genes causing JP, MADH4 and bone morphogenetic protein receptor 1A (BMPR1A): both are involved in bone morphogenetic protein (BMP) mediated signalling and are members of the TGF-beta ..
  5. Seemann P, Schwappacher R, Kjaer K, Krakow D, Lehmann K, Dawson K, et al. Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. J Clin Invest. 2005;115:2373-81 pubmed
    ..Biosensor interaction analyses revealed loss of binding to BMPR1A and BMPR1B ectodomains for the L441P mutant, whereas the R438L mutant showed normal binding to BMPR1B but ..
  6. Kirsch T, Sebald W, Dreyer M. Crystal structure of the BMP-2-BRIA ectodomain complex. Nat Struct Biol. 2000;7:492-6 pubmed
    ..No contacts exist between the receptor domains. The model reveals the structural basis for discrimination between type I and type II receptors and the variability of receptor-ligand interactions that is seen in BMP-TGF-beta systems. ..
  7. Waite K, Eng C. BMP2 exposure results in decreased PTEN protein degradation and increased PTEN levels. Hum Mol Genet. 2003;12:679-84 pubmed
    ..Recently, germline mutations in BMPR1A, the gene encoding the type 1A receptor of bone morphogenetic proteins (BMP) have been found in rare families with ..
  8. Kotzsch A, Nickel J, Seher A, Heinecke K, van Geersdaele L, Herrmann T, et al. Structure analysis of bone morphogenetic protein-2 type I receptor complexes reveals a mechanism of receptor inactivation in juvenile polyposis syndrome. J Biol Chem. 2008;283:5876-87 pubmed
  9. Lavery K, Swain P, Falb D, Alaoui Ismaili M. BMP-2/4 and BMP-6/7 differentially utilize cell surface receptors to induce osteoblastic differentiation of human bone marrow-derived mesenchymal stem cells. J Biol Chem. 2008;283:20948-58 pubmed publisher
    ..knockdown revealed that osteoinductive BMP activities in hMSC are elicited through the type I receptors ACVR1A and BMPR1A and the type II receptors ACVR2A and BMPR2...

More Information

Publications116 found, 100 shown here

  1. Klages J, Kotzsch A, Coles M, Sebald W, Nickel J, Muller T, et al. The solution structure of BMPR-IA reveals a local disorder-to-order transition upon BMP-2 binding. Biochemistry. 2008;47:11930-9 pubmed publisher
    ..The inherent flexibility of both partners possibly explains the promiscuous ligand-receptor interaction observed in the BMP protein superfamily. ..
  2. Kotzsch A, Nickel J, Seher A, Sebald W, Müller T. Crystal structure analysis reveals a spring-loaded latch as molecular mechanism for GDF-5-type I receptor specificity. EMBO J. 2009;28:937-47 pubmed publisher
    ..The new structural data now provide also a molecular basis of how phenotypically relevant missense mutations in GDF-5 might impair receptor binding and activation. ..
  3. Zhang D, Mehler M, Song Q, Kessler J. Development of bone morphogenetic protein receptors in the nervous system and possible roles in regulating trkC expression. J Neurosci. 1998;18:3314-26 pubmed
  4. Howe J, Bair J, Sayed M, Anderson M, Mitros F, Petersen G, et al. Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. Nat Genet. 2001;28:184-7 pubmed
    ..no recombinants using markers developed from the vicinity of the gene for bone morphogenetic protein receptor 1A (BMPR1A), a serine-threonine kinase type I receptor involved in bone morphogenetic protein (BMP) signaling...
  5. Bottcher Y, Unbehauen H, Kloting N, Ruschke K, Körner A, Schleinitz D, et al. Adipose tissue expression and genetic variants of the bone morphogenetic protein receptor 1A gene (BMPR1A) are associated with human obesity. Diabetes. 2009;58:2119-28 pubmed publisher
    ..We examined the role of the BMP receptor 1A gene (BMPR1A) in the pathophysiology of human obesity...
  6. Schwaerzer G, Hiepen C, Schrewe H, Nickel J, Ploeger F, Sebald W, et al. New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance. J Bone Miner Res. 2012;27:429-42 pubmed publisher
    ..The detailed molecular characterization of GDF5-S94N as a noggin-resistant growth factor illustrates the potential of GDF5 mutants in applications with defined therapeutical needs...
  7. 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
    ..Binding of OP-1/BMP-7 to BMPR-II was also observed in nontransfected cell lines. Moreover, a transcriptional activation signal was transduced by BMPR-II in the presence of type I receptors after stimulation by OP-1/BMP-7. ..
  8. 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
    ..The combinatorial nature of these receptors and their capacity to crosstalk with the activin receptor system may underlie the multifunctional nature of their ligands. ..
  9. Yamada N, Kato M, ten Dijke P, Yamashita H, Sampath T, Heldin C, et al. Bone morphogenetic protein type IB receptor is progressively expressed in malignant glioma tumours. Br J Cancer. 1996;73:624-9 pubmed
    ..These results suggest the presence of BMP receptors and a functional role for BMPs in malignant glioma. ..
  10. Allendorph G, Vale W, Choe S. Structure of the ternary signaling complex of a TGF-beta superfamily member. Proc Natl Acad Sci U S A. 2006;103:7643-8 pubmed
  11. Mueller T, Nickel J. Promiscuity and specificity in BMP receptor activation. FEBS Lett. 2012;586:1846-59 pubmed publisher
    ..This raises the intriguing question how concerted interactions of different ligands and receptors generate highly specific cellular signals, which are required during development and tissue homeostasis. ..
  12. Keller S, Nickel J, Zhang J, Sebald W, Mueller T. Molecular recognition of BMP-2 and BMP receptor IA. Nat Struct Mol Biol. 2004;11:481-8 pubmed
    ..Thus, the L51P substitution converts BMP-2 into a receptor-inactive inhibitor of noggin. These results are relevant for other proteins of the TGF-beta superfamily and provide useful clues for structure-based drug design. ..
  13. Varadaraj A, Patel P, Serrao A, Bandyopadhay T, Lee N, Jazaeri A, et al. Epigenetic Regulation of GDF2 Suppresses Anoikis in Ovarian and Breast Epithelia. Neoplasia. 2015;17:826-38 pubmed publisher
    ..by increasing anoikis sensitivity that is dependent on GDF2's ability to sustain the activation of SMAD1/5 via ALK3 and ALK6...
  14. Wang S, Hu S, Wang J, Liu Y, Zhao R, Tong M, et al. Conditioned medium from bone marrow-derived mesenchymal stem cells inhibits vascular calcification through blockade of the BMP2-Smad1/5/8 signaling pathway. Stem Cell Res Ther. 2018;9:160 pubmed publisher
    ..Expression of BMP2, BMPR1A, BMPR1B, BMPR2, msh homeobox 2 (Msx2), Runt-related transcription factor 2 (Runx2), and osteocalcin (OC), ..
  15. Spiekerkoetter E, Tian X, Cai J, Hopper R, Sudheendra D, Li C, et al. FK506 activates BMPR2, rescues endothelial dysfunction, and reverses pulmonary hypertension. J Clin Invest. 2013;123:3600-13 pubmed publisher
    ..FK506 released FKBP12 from type I receptors activin receptor-like kinase 1 (ALK1), ALK2, and ALK3 and activated downstream SMAD1/5 and MAPK signaling and ID1 gene regulation in a manner superior to the calcineurin ..
  16. Zhang X, Chang H, Zhu H, Liu R, Leung P. BMP6 increases TGF-β1 production by up-regulating furin expression in human granulosa-lutein cells. Cell Signal. 2019;55:109-118 pubmed publisher
    ..inhibitors and small interfering RNA-targeted knockdown), we demonstrate that both activin receptor-like (ALK)2 and ALK3 are involved in the BMP6-induced up-regulation of furin...
  17. Pauk M, Bordukalo Niksic T, Brkljacic J, Paralkar V, Brault A, Dumic Cule I, et al. A novel role of bone morphogenetic protein 6 (BMP6) in glucose homeostasis. Acta Diabetol. 2019;56:365-371 pubmed publisher
    ..BMP6 acted on pancreatic and liver cells utilizing Alk3, Alk6 and ActRIIA serine/threonine kinase receptors...
  18. Choy K, Lau Y, Murugan D, Vanhoutte P, Mustafa M. Paeonol Attenuates LPS-Induced Endothelial Dysfunction and Apoptosis by Inhibiting BMP4 and TLR4 Signaling Simultaneously but Independently. J Pharmacol Exp Ther. 2018;364:420-432 pubmed publisher
    ..The present results demonstrate that paeonol reduces LPS-induced endothelial dysfunction and apoptosis by inhibiting TLR4 and BMP4 signaling independently. ..
  19. Lewis R, Keller J, Wan L, Stone J. Bone morphogenetic protein 4 antagonizes hair cell regeneration in the avian auditory epithelium. Hear Res. 2018;364:1-11 pubmed publisher
    ..Supporting cells transcribe genes encoding receptors for BMP4 (BMPR1A, BMPR1B, and BMPR2) and effectors of BMP4 signaling (ID transcription factors)...
  20. Zhao H, Klausen C, Li Y, Zhu H, Wang Y, Leung P. Bone morphogenetic protein 2 promotes human trophoblast cell invasion by upregulating N-cadherin via non-canonical SMAD2/3 signaling. Cell Death Dis. 2018;9:174 pubmed publisher
    ..by type I receptor activin receptor-like kinases 2/3 (ALK2/3) inhibitor DMH1; moreover, knockdown of ALK2 or ALK3 inhibited N-cadherin upregulation...
  21. Zhang X, Chang H, Taylor E, Liu R, Leung P. BMP6 Downregulates GDNF Expression Through SMAD1/5 and ERK1/2 Signaling Pathways in Human Granulosa-Lutein Cells. Endocrinology. 2018;159:2926-2938 pubmed publisher
    ..and small interfering RNA knockdown), our results showed that both activin receptor kinase-like (ALK) 2 and ALK3 are involved in BMP6-induced downregulation of GDNF...
  22. Ruschke K, Meier C, Ullah M, Krebs A, Silberreis K, Kohl B, et al. Bone morphogenetic protein 2/SMAD signalling in human ligamentocytes of degenerated and aged anterior cruciate ligaments. Osteoarthritis Cartilage. 2016;24:1816-1825 pubmed publisher
    ..Degeneration correlated significantly with synovitis. ACL fibroblasts expressed BMP type I receptors ALK3 and ALK6 and the BMP type II receptor BMPRII...
  23. Adapala N, Kim H. A genome-wide transcriptomic analysis of articular cartilage during normal maturation in pigs. Gene. 2017;627:508-518 pubmed publisher
    ..g. BMPR1A, BMPR2, ACVR2, periostin, SFRP2, COL5A3) and regulation of blood vessel size (e.g...
  24. Ibeagha Awemu E, Do D, Dudemaine P, Fomenky B, Bissonnette N. Integration of lncRNA and mRNA Transcriptome Analyses Reveals Genes and Pathways Potentially Involved in Calf Intestinal Growth and Development during the Early Weeks of Life. Genes (Basel). 2018;9: pubmed publisher
    ..i>Cis target gene analysis identified BMPR1A, an important gene for a GIT disease (juvenile polyposis syndrome) in humans, as a candidate cis target ..
  25. Spender L, Ferguson G, Hughes G, Davies B, Goldberg F, Herrera B, et al. Preclinical Evaluation of AZ12601011 and AZ12799734, Inhibitors of Transforming Growth Factor β Superfamily Type 1 Receptors. Mol Pharmacol. 2019;95:222-234 pubmed publisher
    ..inhibitor, inhibiting receptor-mediated phosphorylation of SMAD1 by activin A receptor type 1L, bone morphogenetic protein receptor type 1A, and bone morphogenetic protein receptor type 1B and phosphorylation of SMAD2 by ALK4, TGFBR1, ..
  26. Kim B, Lee J, Jin W, Kim H, Ha H, Lee Z. Trapidil induces osteogenesis by upregulating the signaling of bone morphogenetic proteins. Cell Signal. 2018;49:68-78 pubmed publisher
    ..of trapidil were inhibited by LDN193189, specific inhibitor of bone morphogenetic protein (BMP) receptor, ALK2 and ALK3, and by depletion of ALK3, and treatment with noggin, an antagonist of BMPs...
  27. Shahid M, Spagnolli E, Ernande L, Thoonen R, Kolodziej S, Leyton P, et al. BMP type I receptor ALK2 is required for angiotensin II-induced cardiac hypertrophy. Am J Physiol Heart Circ Physiol. 2016;310:H984-94 pubmed publisher
    ..Cardiomyocyte-specific deletion of BMP type I receptor ALK2 (activin-like kinase 2), but not ALK1 or ALK3, inhibited BMP signaling and mitigated A2-induced cardiac hypertrophy and left ventricular fibrosis in mice...
  28. Schulz T, Huang P, Huang T, Xue R, McDougall L, Townsend K, et al. Brown-fat paucity due to impaired BMP signalling induces compensatory browning of white fat. Nature. 2013;495:379-83 pubmed publisher
    ..Genetic ablation of the type 1A BMP receptor (Bmpr1a) in brown adipogenic progenitor cells leads to a severe paucity of cBAT...
  29. Jogo T, Oki E, Fujiwara M, Kurashige J, Nakanishi R, Sugiyama M, et al. Non-familial juvenile polyposis of the stomach with gastric cancers: a case report. Surg Case Rep. 2018;4:79 pubmed publisher
    ..to identify any germline mutations in the genes usually associated with juvenile polyposis, including SMAD4 and BMPR1A. However, based on the few characteristic physical findings and histopathological features, the final diagnosis ..
  30. Clark C, Robinson J, Sanchez N, Townsend T, Arrieta J, Merryman W, et al. Common pathways regulate Type III TGFβ receptor-dependent cell invasion in epicardial and endocardial cells. Cell Signal. 2016;28:688-98 pubmed publisher
    ..TGFβR3-dependent cell invasion is also dependent upon Activin Receptor-Like Kinase (ALK) 2, ALK3, and ALK5 activity...
  31. Wellbrock J, Sheikhzadeh S, Oliveira Ferrer L, Stamm H, Hillebrand M, Keyser B, et al. Overexpression of Gremlin-1 in patients with Loeys-Dietz syndrome: implications on pathophysiology and early disease detection. PLoS ONE. 2014;9:e104742 pubmed publisher
    ..TGF-β pathway, especially those affecting bone morphogenic protein (BMP) signalling including BMP2, BMP4 and BMPR1A. Gene expression of BMP antagonist Gremlin-1 (GREM1) showed the most prominent up-regulation...
  32. Honda Y, Sato Y, Yokoyama J, Kobayashi M, Narisawa R, Kawauchi Y, et al. Familial juvenile polyposis syndrome with a novel SMAD4 germline mutation. Clin J Gastroenterol. 2013;6:361-7 pubmed publisher
    ..of numerous juvenile polyps (JPs) of the gastrointestinal tract, and associated with a mutation of the SMAD4 or BMPR1A gene. Here, we report a mother-daughter case of familial JPS...
  33. Cheng P, Han P, Zhao C, Zhang S, Wu H, Ni J, et al. High-purity magnesium interference screws promote fibrocartilaginous entheses regeneration in the anterior cruciate ligament reconstruction rabbit model via accumulation of BMP-2 and VEGF. Biomaterials. 2016;81:14-26 pubmed publisher
    ..In the immunohistochemical analysis, highly positive staining of BMP-2, VEGF and the specific receptor for BMP-2 (BMPR1A) was shown at the tendon-bone interface of the HP Mg group compared with the Ti group...
  34. Occhetta P, Pigeot S, Rasponi M, Dasen B, Mehrkens A, Ullrich T, et al. Developmentally inspired programming of adult human mesenchymal stromal cells toward stable chondrogenesis. Proc Natl Acad Sci U S A. 2018;115:4625-4630 pubmed publisher
    ..receptor selectivity profile of tested compounds allowed demonstration that transient blockade of both ALK2 and ALK3 receptors, while permissive to hMSC cartilage formation, is necessary and sufficient to maintain a stable ..
  35. Kominakis A, Hager Theodorides A, Zoidis E, Saridaki A, Antonakos G, Tsiamis G. Combined GWAS and 'guilt by association'-based prioritization analysis identifies functional candidate genes for body size in sheep. Genet Sel Evol. 2017;49:41 pubmed publisher
    ..The top five ranking genes were TP53, BMPR1A, PIK3R5, RPL26 and PRKDC...
  36. Sayed M, Ahmed A, Ringold J, Anderson M, Bair J, Mitros F, et al. Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. Ann Surg Oncol. 2002;9:901-6 pubmed
    ..Two genes are known to predispose to JP, SMAD4 and bone morphogenetic protein receptor type 1A (BMPR1A)...
  37. Rajesh G, Paul A, Mishra S, Bharati J, Thakur N, Mondal T, et al. Expression and functional role of Bone Morphogenetic Proteins (BMPs) in cyclical corpus luteum in buffalo (Bubalus bubalis). Gen Comp Endocrinol. 2017;240:198-213 pubmed publisher
    ..The qPCR, immunoblot and immunohistochemistry studies revealed that BMP2 and BMP Receptors (BMPR1A, BMPR1B and BMPR2) were significantly upregulated during the mid stage whereas BMP4 and BMP7 were upregulated ..
  38. Wu X, Sagave J, Rutkovskiy A, Haugen F, Baysa A, Nygard S, et al. Expression of bone morphogenetic protein 4 and its receptors in the remodeling heart. Life Sci. 2014;97:145-54 pubmed publisher
    ..We investigated if the expression of BMP4 and its receptors BMPR1a and BMPR2 were activated in post-infarction remodeling and heart failure...
  39. Wu X, Wang Y, Wu Q, Cheng W, Liu W, Zhao Y, et al. HFE interacts with the BMP type I receptor ALK3 to regulate hepcidin expression. Blood. 2014;124:1335-43 pubmed publisher
    ..HFE was found to associate with ALK3, inhibiting ALK3 ubiquitination and proteasomal degradation and increasing ALK3 protein expression and accumulation ..
  40. Zhang Y, Liu Y, Hang A, Phan E, Wildsoet C. Differential gene expression of BMP2 and BMP receptors in chick retina & choroid induced by imposed optical defocus. Vis Neurosci. 2016;33:E015 pubmed publisher
    ..of imposed positive (+10 D) and negative (-10 D) lenses on the gene expression of these BMPs and BMP receptors (BMPR1A, BMPR1B, BMPR2) in chick retina and choroid after monocular lens treatment for 2 or 48 h, as indicators of the ..
  41. Tanaka M, Murakami K, Ozaki S, Imura Y, Tong X, Watanabe T, et al. DIP2 disco-interacting protein 2 homolog A (Drosophila) is a candidate receptor for follistatin-related protein/follistatin-like 1--analysis of their binding with TGF-? superfamily proteins. FEBS J. 2010;277:4278-89 pubmed publisher
    ..FRP blocked the ligand-receptor binding of activin and BMP-2, but integrated itself with that of BMP-4. This multi-specific binding may reflect the broad physiological activity of FRP. ..
  42. Monsivais D, Clementi C, Peng J, Titus M, Barrish J, Creighton C, et al. Uterine ALK3 is essential during the window of implantation. Proc Natl Acad Sci U S A. 2016;113:E387-95 pubmed publisher
    ..In this study, we discovered that signaling via activin-like kinase 3 (ALK3/BMPR1A), a BMP type 1 receptor, is necessary for blastocyst attachment...
  43. Yu Z, Mouillesseaux K, Kushner E, Bautch V. Tumor-Derived Factors and Reduced p53 Promote Endothelial Cell Centrosome Over-Duplication. PLoS ONE. 2016;11:e0168334 pubmed publisher
    ..elevated levels of bone morphogenetic protein 2, 6 and 7 induced excess centrosomes in endothelial cells through BMPR1A and likely via SMAD signaling...
  44. Zhu L, Ma J, Mu R, Zhu R, Chen F, Wei X, et al. Bone morphogenetic protein 7 promotes odontogenic differentiation of dental pulp stem cells in vitro. Life Sci. 2018;202:175-181 pubmed publisher
    ..BMP-7 treated cells showed dose-dependently increased expression of BMPR1A, Smad5, and p-Smad5...
  45. Miyoshi T, Otsuka F, Suzuki J, Takeda M, Inagaki K, Kano Y, et al. Mutual regulation of follicle-stimulating hormone signaling and bone morphogenetic protein system in human granulosa cells. Biol Reprod. 2006;74:1073-82 pubmed
    ..FSH administration upregulated BMP type IA (BMPR1A) and IB (BMPR1B) receptors, activin type II receptor (ACVR2), and BMP type II receptor (BMPR2)...
  46. Schulz T, Graja A, Huang T, Xue R, An D, Poehle Kronawitter S, et al. Loss of BMP receptor type 1A in murine adipose tissue attenuates age-related onset of insulin resistance. Diabetologia. 2016;59:1769-77 pubmed publisher
    ..Conditional deletion of Bmpr1a using the aP2 (also known as Fabp4)-Cre strain resulted in a complex phenotype...
  47. Rohlin A, Rambech E, Kvist A, Torngren T, Eiengård F, Lundstam U, et al. Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing. Fam Cancer. 2017;16:195-203 pubmed publisher
    ..Four of the pathogenic or likely pathogenic variants were found in BMPR1A in patients with unexplained familial adenomatous polyposis or atypical adenomatous polyposis, which extends the ..
  48. Wu Y, Chang H, Huang H, Sheng J, Leung P. Bone morphogenetic protein 2 regulates cell-cell communication by down-regulating connexin43 expression in luteinized human granulosa cells. Mol Hum Reprod. 2017;23:155-165 pubmed publisher
    ..luteinized human granulosa cells by down-regulating Cx43 expression through an activin receptor-like kinase (ALK)2/ALK3-mediated Sma- and Mad-related protein (SMAD)-dependent signaling pathway...
  49. Guaraldi F, Di Nardo G, Tarani L, Bertelli L, Susca F, Bagnulo R, et al. Association of autoimmune thyroiditis and celiac disease with Juvenile Polyposis due to 10q23.1q23.31 deletion: Potential role of PI3K/Akt pathway dysregulation. Eur J Med Genet. 2017;60:380-384 pubmed publisher
    ..Most of the cases are caused by SMAD and BMPR1A mutations, while 10q23 microdeletions, encompassing both PTEN and BMPR1A oncogenes, are extremely rare, typically ..
  50. Kim I, Park J, Kang H, Kim K, Kim J, Ku J, et al. Identification of a novel BMPR1A germline mutation in a Korean juvenile polyposis patient without SMAD4 mutation. Clin Genet. 2003;63:126-30 pubmed
    ..Recently, germline mutations of the BMPR1A (ALK3) gene were reported in JP cases without SMAD4 mutations...
  51. Thompson T, Lerch T, Cook R, Woodruff T, Jardetzky T. The structure of the follistatin:activin complex reveals antagonism of both type I and type II receptor binding. Dev Cell. 2005;9:535-43 pubmed
    ..The mode of ligand binding by follistatin has important implications for its ability to neutralize homo- and heterodimeric ligands of this growth factor family. ..
  52. Haubold M, Weise A, Stephan H, Dünker N. Bone morphogenetic protein 4 (BMP4) signaling in retinoblastoma cells. Int J Biol Sci. 2010;6:700-15 pubmed
    ..Thus, RB1 loss in WERI-Rb1 cells is obviously not compensated for by pRb-independent (e.g. p53-dependent) cell cycle control mechanisms, preventing an anti-proliferative response to BMP4, which normally induces cell cycle arrest. ..
  53. Huang J, Liu Y, Filas B, Gunhaga L, Beebe D. Negative and positive auto-regulation of BMP expression in early eye development. Dev Biol. 2015;407:256-64 pubmed publisher
    ..embryo pre-lens ectoderm explant assay, and also studied transgenic mice, in which the type I BMP receptors, Bmpr1a and Acvr1, are deleted from the prospective lens ectoderm...
  54. Ebisawa T, Tada K, Kitajima I, Tojo K, Sampath T, Kawabata M, et al. Characterization of bone morphogenetic protein-6 signaling pathways in osteoblast differentiation. J Cell Sci. 1999;112 ( Pt 20):3519-27 pubmed
    ..These findings indicate that in the process of differentiation to osteoblasts, BMP-6 binds to ALK-2 as well as other type I receptors, and transduces signals mainly through Smad5 and possibly through Smad1. ..
  55. Menko F, Kneepkens C, de Leeuw N, Peeters E, Van Maldergem L, Kamsteeg E, et al. Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes. Clin Genet. 2008;74:145-54 pubmed publisher
    ..Recently, 10q23 microdeletions involving the PTEN and BMPR1A genes were found in four patients with infantile juvenile polyposis...
  56. Soer E, de vos tot Nederveen Cappel W, Ligtenberg M, Moll F, Pierik R, Vecht J, et al. Massive gastric polyposis associated with a germline SMAD4 gene mutation. Fam Cancer. 2015;14:569-73 pubmed publisher
    ..Causative mutations for JPS have been identified in two genes to date, SMAD4 and BMPR1A. SMAD4 mutations are associated with a higher incidence of gastric polyposis...
  57. Blatter R, Plasilova M, Wenzel F, Gokaslan S, Terracciano L, Ashfaq R, et al. Somatic alterations in juvenile polyps from BMPR1A and SMAD4 mutation carriers. Genes Chromosomes Cancer. 2015;54:575-82 pubmed publisher
    ..dominant disorder predisposing to gastrointestinal hamartomatous polyps and cancer with a pathogenic SMAD4 or BMPR1A germline mutation (1st-hit) being identified in about 40-50% of patients...
  58. Naruse T, Aoki M, Fujimoto N, Arase S, Oura H, Ueda Y, et al. Novel ALK5 inhibitor TP0427736 reduces TGF-??induced growth inhibition in human outer root sheath cells and elongates anagen phase in mouse hair follicles. Pharmacol Rep. 2017;69:485-491 pubmed publisher
    ..72nM; this effect was 300-fold higher than the inhibitory effect on ALK3. In cell-based assays, TP0427736 inhibited Smad2/3 phosphorylation in A549 cells and decreased the growth ..
  59. Brewer K, Mwizerva O, Goldstein A. BMPRIA is a promising marker for evaluating ganglion cells in the enteric nervous system--a pilot study. Hum Pathol. 2005;36:1120-6 pubmed
    ..We propose that BMPRIA immunohistochemistry may be a promising new tool for the identification of enteric ganglion cells in the evaluation of patients with neurointestinal disorders. ..
  60. Zhou X, Wang Y, Ongaro L, Boehm U, Kaartinen V, Mishina Y, et al. Normal gonadotropin production and fertility in gonadotrope-specific Bmpr1a knockout mice. J Endocrinol. 2016;229:331-41 pubmed publisher
    ..BMP2 signals preferentially via the BMP type I receptor, BMPR1A, to stimulate murine Fshb transcription in vitro Here, we used a Cre-lox approach to assess BMPR1A's role in FSH ..
  61. Yang S, Yuan Q, Niu M, Hou J, Zhu Z, Sun M, et al. BMP4 promotes mouse iPS cell differentiation to male germ cells via Smad1/5, Gata4, Id1 and Id2. Reproduction. 2017;153:211-220 pubmed
    ..We found that BMP4 ligand and its multiple receptors, including BMPR1a, BMPR1b and BMPR2, were expressed in mouse iPS cells...
  62. Chang M, Lin H, Fu H, Wang B, Han G, Fan M. MicroRNA-195-5p Regulates Osteogenic Differentiation of Periodontal Ligament Cells Under Mechanical Loading. J Cell Physiol. 2017;232:3762-3774 pubmed publisher
    ..that WNT family member 3A (WNT3A), fibroblast growth factor 2 (FGF2), and bone morphogenetic protein receptor-1A (BMPR1A), proteins important for osteogenic activity and stability, were direct targets of miR-195-5p...
  63. Pan H, Zhang H, Abraham P, Komatsu Y, Lyons K, Kaartinen V, et al. BmpR1A is a major type 1 BMP receptor for BMP-Smad signaling during skull development. Dev Biol. 2017;429:260-270 pubmed publisher
    ..demonstrated that augmentation of BMP signaling mediated by a constitutively active BMP type IA receptor (ca-BmpR1A) in neural crest cells (ca1A hereafter) causes craniosynostosis and superimposition of heterozygous null mutation ..
  64. Ide H, Saito Ohara F, Ohnami S, Osada Y, Ikeuchi T, Yoshida T, et al. Assignment of the BMPR1A and BMPR1B genes to human chromosome 10q22.3 and 4q23-->q24 byin situ hybridization and radiation hybrid map ping. Cytogenet Cell Genet. 1998;81:285-6 pubmed
  65. M S Castro Raucci L, S Francischini M, N Teixeira L, P Ferraz E, B Lopes H, T de Oliveira P, et al. Titanium With Nanotopography Induces Osteoblast Differentiation by Regulating Endogenous Bone Morphogenetic Protein Expression and Signaling Pathway. J Cell Biochem. 2016;117:1718-26 pubmed publisher
    ..on Nano and machined (Machined) Ti surfaces and the endogenous BMP-2/4 expression and the effect of BMP receptor BMPR1A silencing in both osteoblast differentiation and expression of genes related to TGF-β/BMP signaling were ..
  66. Pyatt R, Pilarski R, Prior T. Mutation screening in juvenile polyposis syndrome. J Mol Diagn. 2006;8:84-8 pubmed
    ..Germline mutations have been identified in MADH4 and BMPR1A, aiding in presymptomatic genetic testing...
  67. Shi C, Mandair G, Zhang H, Vanrenterghem G, Ridella R, Takahashi A, et al. Bone morphogenetic protein signaling through ACVR1 and BMPR1A negatively regulates bone mass along with alterations in bone composition. J Struct Biol. 2018;201:237-246 pubmed publisher
    ..More specifically, we disrupted two BMP receptors, Acvr1 and Bmpr1a, respectively, in Osterix-expressing osteogenic progenitor cells in mice...
  68. Nickel J, Dreyer M, Kirsch T, Sebald W. The crystal structure of the BMP-2:BMPR-IA complex and the generation of BMP-2 antagonists. J Bone Joint Surg Am. 2001;83-A Suppl 1:S7-14 pubmed
    ..Because of the association with various diseases, the generation of antagonists of other TGF-beta superfamily members might generate potent tools for basic research and therapeutic approaches. ..
  69. Ahmed N, Sammons J, Carson R, Khokher M, Hassan H. Effect of bone morphogenetic protein-6 on haemopoietic stem cells and cytokine production in normal human bone marrow stroma. Cell Biol Int. 2001;25:429-35 pubmed
    ..Further in vitro tests are required to evaluate this potential mobilising role of BMP-6 in human long-term bone marrow culture. ..
  70. Howe J, Chinnathambi S, Calva D, Bair J, Pechman B, Salamon A, et al. A family with two consecutive nonsense mutations in BMPR1A causing juvenile polyposis. Cancer Genet Cytogenet. 2008;181:52-4 pubmed publisher
    We describe a novel germline mutation of BMPR1A in a family with juvenile polyposis and colon cancer...
  71. Ngeow J, Heald B, Rybicki L, Orloff M, Chen J, Liu X, et al. Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. Gastroenterology. 2013;144:1402-9, 1409.e1-5 pubmed publisher
    ..to determine the prevalence of hamartomatous polyposis-associated mutations in the susceptibility genes PTEN, BMPR1A, SMAD4, ENG, and STK11 in individuals with ?5 gastrointestinal polyps, including at least 1 hamartomatous or ..
  72. Healey E, Bishop B, Elegheert J, Bell C, Padilla Parra S, Siebold C. Repulsive guidance molecule is a structural bridge between neogenin and bone morphogenetic protein. Nat Struct Mol Biol. 2015;22:458-65 pubmed publisher
    ..Our results show how RGM acts as the central hub that links BMP and NEO1 and physically connects these fundamental signaling pathways. ..
  73. Jelsig A, Brusgaard K, Hansen T, Qvist N, Larsen M, Bojesen A, et al. Germline variants in Hamartomatous Polyposis Syndrome-associated genes from patients with one or few hamartomatous polyps. Scand J Gastroenterol. 2016;51:1118-25 pubmed publisher
    ..We detected several germline variants, among them three in ENG, two in BMPR1A, one in PTEN, and one in SMAD4...
  74. Nascimento M, Nonaka C, Barboza C, Freitas R, Pereira Pinto L, Souza L. Immunoexpression of BMP-2 and BMP-4 and their receptors, BMPR-IA and BMPR-II, in ameloblastomas and adenomatoid odontogenic tumors. Arch Oral Biol. 2017;73:223-229 pubmed publisher
    ..The positive correlation observed in AOTs might be related to the formation of mineralized material in this tumor. ..
  75. Zetner D, Bisgaard M. Familial Colorectal Cancer Type X. Curr Genomics. 2017;18:341-359 pubmed publisher
    ..Some genes in FCCTX families (RPS20, BMPR1A, SEMA4A) have been identified by using a combination of linkage analysis and sequencing...
  76. Kretzschmar M, Liu F, Hata A, Doody J, Massague J. The TGF-beta family mediator Smad1 is phosphorylated directly and activated functionally by the BMP receptor kinase. Genes Dev. 1997;11:984-95 pubmed
    ..As a direct physiological substrate of BMP receptors, Smad1 provides a link between receptor serine/threonine kinases and the nucleus. ..
  77. Gilboa L, Nohe A, Geissendörfer T, Sebald W, Henis Y, Knaus P. Bone morphogenetic protein receptor complexes on the surface of live cells: a new oligomerization mode for serine/threonine kinase receptors. Mol Biol Cell. 2000;11:1023-35 pubmed
    ..This novel feature in the oligomerization mode of the BMP receptors allows higher variety and flexibility in their responses to various ligands as compared with the TGF-beta receptors. ..
  78. Wan M, Shi X, Feng X, Cao X. Transcriptional mechanisms of bone morphogenetic protein-induced osteoprotegrin gene expression. J Biol Chem. 2001;276:10119-25 pubmed
    ..Transfection of Smad1 and a constitutively active BMP type IA receptor ALK3 (Q233) stimulated the OPG promoter...
  79. Friedl W, Uhlhaas S, Schulmann K, Stolte M, Loff S, Back W, et al. Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers. Hum Genet. 2002;111:108-11 pubmed
    ..Germline mutations in the MADH4 or BMPR1A genes have been found to be causative of the disease in a subset of JPS patients...
  80. El Bizri N, Guignabert C, Wang L, Cheng A, Stankunas K, Chang C, et al. SM22alpha-targeted deletion of bone morphogenetic protein receptor 1A in mice impairs cardiac and vascular development, and influences organogenesis. Development. 2008;135:2981-91 pubmed publisher
    Expression of bone morphogenetic protein receptor 1A (BMPR1A) is attenuated in the lung vessels of patients with pulmonary arterial hypertension, but the functional impact of this abnormality is unknown...
  81. Guo M, Jiang Z, Zhang X, Lu D, Ha A, Sun J, et al. miR-656 inhibits glioma tumorigenesis through repression of BMPR1A. Carcinogenesis. 2014;35:1698-706 pubmed publisher
    ..We identified and confirmed that BMP receptor, type 1A (BMPR1A) is a direct target of miR-656...
  82. Stantzou A, Schirwis E, Swist S, Alonso Martin S, Polydorou I, Zarrouki F, et al. BMP signaling regulates satellite cell-dependent postnatal muscle growth. Development. 2017;144:2737-2747 pubmed publisher
    ..Overexpression of noggin in postnatal mice (to antagonize BMP ligands), satellite cell-specific knockout of Alk3 (the gene encoding the BMP transmembrane receptor) or overexpression of inhibitory SMAD6 decreased satellite ..
  83. Kanamori Y, Murakami M, Matsui T, Funaba M. Identification of novel bone morphogenetic protein- responsive elements in a hepcidin promoter. FEBS Lett. 2017;591:3895-3905 pubmed publisher
    ..areas; among them, mutations of the GC-rich element found in regions B to D exhibited decreased responsiveness to ALK3(QD) expression in the presence of BMP-RE1 mutations, indicating necessity of the elements for full expression of ..
  84. Aström A, Jin D, Imamura T, Roijer E, Rosenzweig B, Miyazono K, et al. Chromosomal localization of three human genes encoding bone morphogenetic protein receptors. Mamm Genome. 1999;10:299-302 pubmed
    ..Using somatic cell hybrid and FISH analyses, the BMPR1A, BMPR1B, and BMPR2 genes were assigned to 10q23, 4q22-24, and 2q33-34, respectively...
  85. Hatta T, Konishi H, Katoh E, Natsume T, Ueno N, Kobayashi Y, et al. Identification of the ligand-binding site of the BMP type IA receptor for BMP-4. Biopolymers. 2000;55:399-406 pubmed
    ..These findings should provide a general basis for the ligand/type I receptor recognition in the TGF-beta superfamily. ..
  86. Calva Cerqueira D, Chinnathambi S, Pechman B, Bair J, Larsen Haidle J, Howe J. The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. Clin Genet. 2009;75:79-85 pubmed publisher
    ..Germline point mutations in SMAD4 and BMPR1A have been identified as causing JPS in approximately 40-60% of patients, but few studies have looked at the rate ..
  87. Yan X, Zhang J, Pan L, Wang P, Xue H, Zhang L, et al. TSC-22 promotes transforming growth factor ?-mediated cardiac myofibroblast differentiation by antagonizing Smad7 activity. Mol Cell Biol. 2011;31:3700-9 pubmed publisher
    ..Taken together with the notion that TGF-? induces TSC-22 expression, our findings suggest that TSC-22 regulates TGF-? signaling via a positive-feedback mechanism and may contribute to myocardial fibrosis. ..
  88. Dalvi P, O Brien Ladner A, Dhillon N. Downregulation of bone morphogenetic protein receptor axis during HIV-1 and cocaine-mediated pulmonary smooth muscle hyperplasia: implications for HIV-related pulmonary arterial hypertension. Arterioscler Thromb Vasc Biol. 2013;33:2585-95 pubmed publisher
    ..Simultaneous exposure of pulmonary smooth muscle cells to viral protein(s) and cocaine exacerbates downregulation of BMPR axis that may result in enhanced pulmonary vasculature aberrations in HIV+IVDUs...
  89. Valdecantos P, Bravo Miana R, García E, García D, Roldán Olarte M, Miceli D. Expression of bone morphogenetic protein receptors in bovine oviductal epithelial cells: Evidence of autocrine BMP signaling. Anim Reprod Sci. 2017;185:89-96 pubmed publisher
    ..In the present study, RT-qPCR was used to analyze the mRNA abundance of BMP type I (BMPR1A, BMPR1B, ACVR1) and type II receptors (BMPR2, ACVR2A, ACVR2B) in the bovine oviduct epithelial cells (BOEC) ..
  90. Vitt U, Mazerbourg S, Klein C, Hsueh A. Bone morphogenetic protein receptor type II is a receptor for growth differentiation factor-9. Biol Reprod. 2002;67:473-80 pubmed
  91. O Riordan J, O Donoghue D, Green A, Keegan D, Hawkes L, Payne S, et al. Hereditary mixed polyposis syndrome due to a BMPR1A mutation. Colorectal Dis. 2010;12:570-3 pubmed publisher
    ..In this report, we describe the significance of a bone morphogenetic protein receptor type 1A gene mutation in an Irish family.