ACVR1

Summary

Gene Symbol: ACVR1
Description: activin A receptor type 1
Alias: ACTRI, ACVR1A, ACVRLK2, ALK2, FOP, SKR1, TSRI, activin receptor type-1, TGF-B superfamily receptor type I, activin A receptor, type I, activin A receptor, type II-like kinase 2, activin receptor type I, activin receptor-like kinase 2, hydroxyalkyl-protein kinase, serine/threonine-protein kinase receptor R1
Species: human
Products:     ACVR1

Top Publications

  1. Inman G, Nicolás F, Callahan J, Harling J, Gaster L, Reith A, et al. SB-431542 is a potent and specific inhibitor of transforming growth factor-beta superfamily type I activin receptor-like kinase (ALK) receptors ALK4, ALK5, and ALK7. Mol Pharmacol. 2002;62:65-74 pubmed
    ..SB-431542 has no effect on components of the ERK, JNK, or p38 MAP kinase pathways or on components of the signaling pathways activated in response to serum. ..
  2. Groppe J, Shore E, Kaplan F. Functional modeling of the ACVR1 (R206H) mutation in FOP. Clin Orthop Relat Res. 2007;462:87-92 pubmed
    ..skeleton during childhood because of an identical heterozygous mutation in the glycine-serine activation domain of ACVR1, a bone morphogenetic protein type I receptor...
  3. Bocciardi R, Bordo D, Di Duca M, Di Rocco M, Ravazzolo R. Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements. Eur J Hum Genet. 2009;17:311-8 pubmed publisher
    ..Recently, FOP has been associated with a specific mutation of ACVR1, the gene coding for a bone morphogenetic protein type I receptor...
  4. Fukuda T, Kanomata K, Nojima J, Kokabu S, Akita M, Ikebuchi K, et al. A unique mutation of ALK2, G356D, found in a patient with fibrodysplasia ossificans progressiva is a moderately activated BMP type I receptor. Biochem Biophys Res Commun. 2008;377:905-9 pubmed publisher
    ..A common mutation among FOP patients has been identified in ALK2, ALK2(R206H), which encodes a constitutively active bone morphogenetic protein (BMP) receptor...
  5. Lee D, Cho T, Lee H, Park M, Yoo W, Chung C, et al. ACVR1 gene mutation in sporadic Korean patients with fibrodysplasia ossificans progressiva. J Korean Med Sci. 2009;24:433-7 pubmed publisher
    ..The c.617G>A; p.R206H point mutation in the activin A type I receptor (ACVR1) gene has been reported to be a causative mutation of FOP...
  6. Ohte S, Shin M, Sasanuma H, Yoneyama K, Akita M, Ikebuchi K, et al. A novel mutation of ALK2, L196P, found in the most benign case of fibrodysplasia ossificans progressiva activates BMP-specific intracellular signaling equivalent to a typical mutation, R206H. Biochem Biophys Res Commun. 2011;407:213-8 pubmed publisher
    ..Constitutively activated mutants of a bone morphogenetic protein (BMP) receptor, ALK2, have been identified in patients with FOP...
  7. Matsuzaki K, Xu J, Wang F, McKeehan W, Krummen L, Kan M. A widely expressed transmembrane serine/threonine kinase that does not bind activin, inhibin, transforming growth factor beta, or bone morphogenic factor. J Biol Chem. 1993;268:12719-23 pubmed
    ..A human liver cell cDNA which codes for a new serine/threonine kinase receptor (SKR1) was identified using degenerate oligonucleotide primers complementary to coding sequence for mouse activin and ..
  8. Nakajima M, Haga N, Takikawa K, Manabe N, Nishimura G, Ikegawa S. The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva. J Hum Genet. 2007;52:473-5 pubmed
    ..The 617G>A (R206H) mutation in the activin receptor type IA (ACVR1) gene has been identified in all examined individuals with FOP of various ethnic groups, including Caucasian and ..
  9. Kaplan F, Xu M, Seemann P, Connor J, Glaser D, Carroll L, et al. Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. Hum Mutat. 2009;30:379-90 pubmed publisher
    ..in the glycine and serine residue (GS) activation domain of activin A type I receptor/activin-like kinase 2 (ACVR1/ALK2), a bone morphogenetic protein (BMP) type I receptor...

More Information

Publications114 found, 100 shown here

  1. Shore E, Xu M, Feldman G, Fenstermacher D, Cho T, Choi I, et al. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nat Genet. 2006;38:525-7 pubmed
    ..an identical heterozygous mutation (617G --> A; R206H) in the glycine-serine (GS) activation domain of ACVR1, a BMP type I receptor, in all affected individuals examined...
  2. 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
    ..gene 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...
  3. Fukuda T, Kohda M, Kanomata K, Nojima J, Nakamura A, Kamizono J, et al. Constitutively activated ALK2 and increased SMAD1/5 cooperatively induce bone morphogenetic protein signaling in fibrodysplasia ossificans progressiva. J Biol Chem. 2009;284:7149-56 pubmed publisher
    ..a mutation involving a single amino acid substitution in a bone morphogenetic protein (BMP) type I receptor, ALK2, was identified in patients with FOP...
  4. Petrie K, Lee W, Bullock A, Pointon J, Smith R, Russell R, et al. Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients. PLoS ONE. 2009;4:e5005 pubmed publisher
    ..FOP has been shown to result from a point mutation (c.617G>A) in the ACVR1 gene in almost all patients reported. Very recently two other mutations have been described in three FOP patients...
  5. Van Dinther M, Visser N, de Gorter D, Doorn J, Goumans M, de Boer J, et al. ALK2 R206H mutation linked to fibrodysplasia ossificans progressiva confers constitutive activity to the BMP type I receptor and sensitizes mesenchymal cells to BMP-induced osteoblast differentiation and bone formation. J Bone Miner Res. 2010;25:1208-15 pubmed publisher
    ..heterozygous R206H mutation in the bone morphogenetic protein (BMP) type I receptor activin receptor-like kinase 2 (ALK2)...
  6. Song G, Kim H, Woo K, Baek J, Kim G, Choi J, et al. Molecular consequences of the ACVR1(R206H) mutation of fibrodysplasia ossificans progressiva. J Biol Chem. 2010;285:22542-53 pubmed publisher
    ..617G>A; p.R206H, in the activin A receptor type 1 (ACVR1) gene, one of the bone morphogenetic protein type I receptors (BMPR-Is)...
  7. Chaikuad A, Alfano I, Kerr G, Sanvitale C, Boergermann J, Triffitt J, et al. Structure of the bone morphogenetic protein receptor ALK2 and implications for fibrodysplasia ossificans progressiva. J Biol Chem. 2012;287:36990-8 pubmed publisher
    ..FOP-associated mutations in the BMP receptor ALK2 reduce binding of the inhibitor FKBP12 and promote leaky signaling in the absence of ligand...
  8. 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
    ..type I receptor inhibitors (Dorsomorphin, DMH-1 and SB431542) and target depletion small interfering RNAs (ALK2, ALK3, ALK6 and SMAD4) were used to investigate the underlying molecular mechanisms...
  9. 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 ..
  10. 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
    ..These results indicate that the ALK2/3-mediated canonical SMAD signaling pathway is required for the stimulatory effect of BMP6 on furin expression, ..
  11. Chang H, Cheng J, Fang L, Qiu X, Klausen C, Taylor E, et al. Recombinant BMP4 and BMP7 downregulate pentraxin 3 in human granulosa cells. J Clin Endocrinol Metab. 2015;100:E365-74 pubmed publisher
    ..Combined knockdown (ALK3/ALK6 for BMP4 and ALK2/ALK3 for BMP7) reversed the effects of BMP4- and BMP7-induced Smad1/5/8 phosphorylation and PTX3 suppression...
  12. Zhang H, Klausen C, Zhu H, Chang H, Leung P. BMP4 and BMP7 Suppress StAR and Progesterone Production via ALK3 and SMAD1/5/8-SMAD4 in Human Granulosa-Lutein Cells. Endocrinology. 2015;156:4269-80 pubmed publisher
    ..were blocked by pretreatment with inhibitors of activin receptor-like kinase (ALK)2/3/6 (dorsomorphin) or ALK2/3 (DMH1) but not ALK4/5/7 (SB-431542)...
  13. Tsugawa D, Oya Y, Masuzaki R, Ray K, Engers D, Dib M, et al. Specific activin receptor-like kinase 3 inhibitors enhance liver regeneration. J Pharmacol Exp Ther. 2014;351:549-58 pubmed publisher
    ..In contrast, an antagonist of the BMP receptor ALK2, VU0469381 (5-(6-(4-methoxyphenyl)pyrazolo[1,5-a]pyrimidin-3-yl)quinolone; 1LWY), did not affect liver regeneration...
  14. 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
    ..SMAD2/3 phosphorylation and N-cadherin were totally abolished by type I receptor activin receptor-like kinases 2/3 (ALK2/3) inhibitor DMH1; moreover, knockdown of ALK2 or ALK3 inhibited N-cadherin upregulation...
  15. Wei Z, Salmon R, Upton P, Morrell N, Li W. Regulation of bone morphogenetic protein 9 (BMP9) by redox-dependent proteolysis. J Biol Chem. 2014;289:31150-9 pubmed publisher
    ..This activity requires ALK1, the lower affinity type I receptor ALK2, and higher concentrations of BMP9...
  16. Bai L, Chang H, Cheng J, Chu G, Leung P, Yang G. ALK2/ALK3-BMPR2/ACVR2A Mediate BMP2-Induced Downregulation of Pentraxin 3 Expression in Human Granulosa-Lutein Cells. Endocrinology. 2017;158:3501-3511 pubmed publisher
    ..These results improve our understanding of the molecular mechanisms of BMP2 signaling. Our findings suggest that BMP2 may be involved in the regulation of cumulus expansion during the periovulatory stage...
  17. Bosukonda A, Carlson W. Harnessing the BMP signaling pathway to control the formation of cancer stem cells by effects on epithelial-to-mesenchymal transition. Biochem Soc Trans. 2017;45:223-228 pubmed publisher
    ..the growth of primary tumor cells by interacting with type I receptors selectively [activin receptor-like kinase 2 (ALK2) and ALK3, but not ALK6] and type II BMP receptors, activating SMAD 1/5/8 signaling and controlling the cell cycle ..
  18. Khalkhali Ellis Z, Kirschmann D, Seftor E, Gilgur A, Bodenstine T, Hinck A, et al. Divergence(s) in nodal signaling between aggressive melanoma and embryonic stem cells. Int J Cancer. 2015;136:E242-51 pubmed publisher
    ..TGFβRI/TGFβRII) for signal transduction, whereas embryonic stem cells use the Activin receptors I and II (ACTRI/ACTRII)...
  19. Di Rocco M, Baujat G, Bertamino M, Brown M, De Cunto C, Delai P, et al. International physician survey on management of FOP: a modified Delphi study. Orphanet J Rare Dis. 2017;12:110 pubmed publisher
    ..ossification (HEO), is caused by heterozygous gain-of- function mutations in Activin receptor A, type I (ACVR1, also known as ALK2), a bone morphogenetic protein (BMP) type I receptor...
  20. Puget S, Beccaria K, Blauwblomme T, Roujeau T, James S, Grill J, et al. Biopsy in a series of 130 pediatric diffuse intrinsic Pontine gliomas. Childs Nerv Syst. 2015;31:1773-80 pubmed publisher
    ..e., histones H3 K27M and activin receptor ACVR1. Stereotactic biopsies of DIPG can be considered as a safe procedure in well-trained neurosurgical teams and could ..
  21. 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
    ..Treatment of purified gonadotropes with small-molecule inhibitors of BMPR1A (and the related receptors BMPR1B and ACVR1) suppressed Fshb mRNA expression, suggesting that an autocrine BMP-like molecule might regulate FSH synthesis...
  22. 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 ..
  23. Beraldo F, Ostapchenko V, Xu J, Di Guglielmo G, Fan J, Nicholls P, et al. Mechanisms of neuroprotection against ischemic insult by stress-inducible phosphoprotein-1/prion protein complex. J Neurochem. 2018;145:68-79 pubmed publisher
    ..to OGD in a manner that was dependent on PrPC and α7nAChR, but also on the activin A receptor 1 (ALK2), which has emerged as a signaling partner of STI1...
  24. Bouvard B, Masson C, Legrand E, Audran M. Fibrodysplasia ossificans progressiva. A case report and focus on the BMP signaling pathway. Morphologie. 2016;100:250-255 pubmed publisher
    ..It has recently been shown that a recurrent mutation in activation domain of the activin-receptor IA (ACVR1), a BMP receptor, could lead to an abnormal signalling pathway of BMP-4 and contribute to the occurrence of the ..
  25. Hou Y, Liu S, Wang L, Wu S. Physiopathology of multiple organ dysfunctions in severely monocrotophos-poisoned rabbits. Chem Biol Interact. 2017;278:9-14 pubmed publisher
    ..activity was determined using the dithiobisnitrobenzoic acid enzyme kinetics method, and the free organophosphorus (FOP) toxic substances content was analyzed using the enzyme inhibition method...
  26. Wang H, Behrens E, Pignolo R, Kaplan F. ECSIT links TLR and BMP signaling in FOP connective tissue progenitor cells. Bone. 2018;109:201-209 pubmed publisher
    ..in the setting of dysregulated bone morphogenetic protein (BMP) signaling in fibrodysplasia ossificans progressiva (FOP)...
  27. Joziasse I, Smith K, Chocron S, Van Dinther M, Guryev V, van de Smagt J, et al. ALK2 mutation in a patient with Down's syndrome and a congenital heart defect. Eur J Hum Genet. 2011;19:389-93 pubmed publisher
    ..atrioventricular septal defects, substitutions were identified in bone morphogenetic protein (BMP) type I receptor ALK2 and two other genes in a patient with DS and a primum-type atrial septal defect...
  28. Dong Z, Zhou L, Han N, Zhang M, Lyu X. Wnt/β-catenin pathway involvement in ionizing radiation-induced invasion of U87 glioblastoma cells. Strahlenther Onkol. 2015;191:672-80 pubmed publisher
    ..We next investigated the effect of irradiation on Wnt/β-catenin pathway activity using TOP/FOP flash luciferase assays and quantitative polymerase chain reaction analysis of β-catenin target genes...
  29. Paysal J, Sarret C, Merlin E, Ravazzolo R, Bocciardi R, Garcier J, et al. [Transverse reductional anomaly and atypical fibrodysplasia ossificans progressiva: A case diagnosed late]. Arch Pediatr. 2017;24:547-551 pubmed publisher
    Fibrodysplasia ossificans progressiva (FOP) is a rare disease characterized by the association of congenital bone abnormalities and extraskeletal ossification flare-ups occurring in muscles and fasciae...
  30. Barruet E, Hsiao E. Application of human induced pluripotent stem cells to model fibrodysplasia ossificans progressiva. Bone. 2018;109:162-167 pubmed publisher
    ..FOP patients have mutations in the Activin A type I receptor (ACVR1), a bone morphogenetic protein (BMP) receptor...
  31. Mohedas A, Wang Y, Sanvitale C, Canning P, Choi S, Xing X, et al. Structure-activity relationship of 3,5-diaryl-2-aminopyridine ALK2 inhibitors reveals unaltered binding affinity for fibrodysplasia ossificans progressiva causing mutants. J Med Chem. 2014;57:7900-15 pubmed publisher
    ..FOP), a debilitating and progressive heterotopic ossification disease caused by activating mutations of ACVR1 encoding the BMP type I receptor kinase ALK2...
  32. Pacifici M, Shore E. Common mutations in ALK2/ACVR1, a multi-faceted receptor, have roles in distinct pediatric musculoskeletal and neural orphan disorders. Cytokine Growth Factor Rev. 2016;27:93-104 pubmed publisher
    Activin receptor-like kinase-2 (ALK2), the product of ACVR1, is a member of the type I bone morphogenetic protein (BMP) receptor family...
  33. Labonty M, Pray N, Yelick P. A Zebrafish Model of Human Fibrodysplasia Ossificans Progressiva. Zebrafish. 2017;14:293-304 pubmed publisher
    ..In humans, activating mutations in the Type I BMP/TGF? family member receptor, ACVR1, are associated with FOP...
  34. Raine K, Ferdinands A, Atkey K, Hobin E, Jeffery B, Nykiforuk C, et al. Policy recommendations for front-of-package, shelf, and menu labelling in Canada: Moving towards consensus. Can J Public Health. 2017;108:e409-e413 pubmed publisher
    ..Government action on nutrition labelling systems, including front-of-package (FOP), shelf, and menu labelling, is required...
  35. Xue R, Wu J, Zhu Z, Wang L, Wang X, Wang S, et al. Differentially Expressed Genes in Resistant and Susceptible Common Bean (Phaseolus vulgaris L.) Genotypes in Response to Fusarium oxysporum f. sp. phaseoli. PLoS ONE. 2015;10:e0127698 pubmed publisher
    Fusarium wilt of common bean (Phaseolus vulgaris L.), caused by Fusarium oxysporum Schlechtend.:Fr. f.sp. phaseoli (Fop), is one of the most important diseases of common beans worldwide...
  36. Wang K, Sun X, Feng H, Fei C, Zhang Y. DNALK2 inhibits the proliferation and invasiveness of breast cancer MDA-MB-231 cells through the Smad-dependent pathway. Oncol Rep. 2017;37:879-886 pubmed publisher
    ..Activin?like kinase 2 (ALK2) is generally expressed in breast cancer cells (MDA-MB-231, MCF7, SK-BR-3 and MDA-MB?468); however, the effect of ..
  37. Sakane K, Nishiguchi M, Denda M, Yamagchi F, Magari M, Kanayama N, et al. Identification and characterization of a centrosomal protein, FOR20 as a novel S100A6 target. Biochem Biophys Res Commun. 2017;491:980-985 pubmed publisher
    ..Here we identified a centrosomal protein, FOR20 (FOP-related protein of 20 kDa) as a novel S100A6 target by screening protein microarrays carrying 19,676 recombinant ..
  38. Hefner J, Berberich S, Lanvers E, Sanning M, Steimer A, Kunzmann V. New insights into frequency and contents of fear of cancer progression/recurrence (FOP/FCR) in outpatients with colorectal carcinoma (CRC) receiving oral capecitabine: a pilot study at a comprehensive cancer center. Patient Prefer Adherence. 2017;11:1907-1914 pubmed publisher
    Fear of cancer progression/recurrence (FOP/FCR) is considered one of the most prevalent sources of distress in cancer survivors and associated with lower quality of life and functional impairment...
  39. Mendoza R, Tolentino Mayo L, Hernandez Barrera L, Nieto C, Monterrubio Flores E, Barquera S. Modifications in the Consumption of Energy, Sugar, and Saturated Fat among the Mexican Adult Population: Simulation of the Effect When Replacing Processed Foods that Comply with a Front of Package Labeling System. Nutrients. 2018;10: pubmed publisher
    ..Health (INSP), free from conflict of interest, established food content standards to place the front-of-package (FOP) logo on foods that meet these nutrition criteria...
  40. Welt C. The physiology and pathophysiology of inhibin, activin and follistatin in female reproduction. Curr Opin Obstet Gynecol. 2002;14:317-23 pubmed
    ..Thus, the mechanism of inhibin action and its role in normal and abnormal ovarian function continues to emerge. ..
  41. Craft C, Romero D, Vary C, Bergan R. Endoglin inhibits prostate cancer motility via activation of the ALK2-Smad1 pathway. Oncogene. 2007;26:7240-50 pubmed
    ..type I activin receptor-like kinases (ALKs) are necessary for Smad activation, we went on to show that knockdown of ALK2, but not TGFbetaRI (ALK5), abrogated endoglin-mediated decreases in cell motility and constitutively active ALK2 ..
  42. Leikauf G, Concel V, Liu P, Bein K, Berndt A, Ganguly K, et al. Haplotype association mapping of acute lung injury in mice implicates activin a receptor, type 1. Am J Respir Crit Care Med. 2011;183:1499-509 pubmed publisher
    ..5-fold. Associations were identified on chromosomes 1, 2, 4, 11, and 12. Seven genes (Acvr1, Cacnb4, Ccdc148, Galnt13, Rfwd2, Rpap2, and Tgfbr3) had single nucleotide polymorphism (SNP) associations within ..
  43. Wu G, Diaz A, Paugh B, Rankin S, Ju B, Li Y, et al. The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma. Nat Genet. 2014;46:444-450 pubmed publisher
    ..We identified recurrent somatic mutations in ACVR1 exclusively in DIPGs (32%), in addition to previously reported frequent somatic mutations in histone H3 genes, ..
  44. Ortiz Agapito F, Colmenares Bonilla D. Quality of life of patients with fibrodysplasia ossificans progressiva. J Child Orthop. 2015;9:489-93 pubmed publisher
    Fibrodysplasia ossificans progressiva (FOP) is a rare disorder characterized by episodes of acute pain and heterotopic ossification of soft tissue, and progressively limited physical function and social participation...
  45. Zhao B, Pritchard J. Inherited Disease Genetics Improves the Identification of Cancer-Associated Genes. PLoS Genet. 2016;12:e1006081 pubmed publisher
    ..associated with Noonan syndrome as significantly altered in melanoma and the first kinase-activating mutations in ACVR1 associated with adult tumors...
  46. Benn A, Hiepen C, Osterland M, Schütte C, Zwijsen A, Knaus P. Role of bone morphogenetic proteins in sprouting angiogenesis: differential BMP receptor-dependent signaling pathways balance stalk vs. tip cell competence. FASEB J. 2017;31:4720-4733 pubmed publisher
    ..i>in vitro and ex vivo and that the BMP type I receptors, activin receptor-like kinase 3 (ALK3) and ALK2, play crucial and distinct roles in this process...
  47. Botello Smith W, Alsamarah A, Chatterjee P, Xie C, Lacroix J, Hao J, et al. Polymodal allosteric regulation of Type 1 Serine/Threonine Kinase Receptors via a conserved electrostatic lock. PLoS Comput Biol. 2017;13:e1005711 pubmed publisher
    ..Here, by performing molecular dynamics simulations and free energy calculation of Activin-Like Kinase 2 (ALK2), we found that GS domain phosphorylation, FKBP12 dissociation, and disease mutations all destabilize a D354-R375 ..
  48. 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. ..
  49. Agarwal S, Loder S, Breuler C, Li J, Cholok D, Brownley C, et al. Strategic Targeting of Multiple BMP Receptors Prevents Trauma-Induced Heterotopic Ossification. Mol Ther. 2017;25:1974-1987 pubmed publisher
    ..FOP), are caused by hyperactivating mutations of the type I bone morphogenetic protein receptor (T1-BMPR) ACVR1/ALK2, studies evaluating therapies for HO have been directed primarily toward drugs for this specific receptor...
  50. Mediano Stoltze F, Barker J, Kanter R, Corvalan C, Reyes M, Taillie L, et al. Prevalence of child-directed and general audience marketing strategies on the front of beverage packaging: the case of Chile. Public Health Nutr. 2017;:1-11 pubmed publisher
    Front-of-package (FOP) marketing strategies of a wide variety of beverages were catalogued to examine the prevalence of each strategy prior to a sweeping Chilean restriction of child-directed marketing aimed at reducing obesity-related ..
  51. Dantola M, Urrutia M, Thomas A. Effect of pterin impurities on the fluorescence and photochemistry of commercial folic acid. J Photochem Photobiol B. 2018;181:157-163 pubmed publisher
    ..have demonstrated that usual commercial PteGlu is unpurified with the unconjugated oxidized pterins 6?formylpterin (Fop) and 6?carboxypterin (Cap)...
  52. Attisano L, Wrana J, Montalvo E, Massague J. Activation of signalling by the activin receptor complex. Mol Cell Biol. 1996;16:1066-73 pubmed
    ..The evidence suggests that ActR-IIB acts as a primary activin receptor and ActR-IB acts as a downstream transducer of activin signals. ..
  53. Kaplan F, Pignolo R, Shore E. Granting immunity to FOP and catching heterotopic ossification in the Act. Semin Cell Dev Biol. 2016;49:30-6 pubmed publisher
    ..individuals, FOP is caused by heterozygous missense gain-of-function mutations in Activin receptor A type I (ACVR1), a bone morphogenetic protein (BMP) type I receptor...
  54. Saleh A, Soltani B, Dokanehiifard S, Medlej A, Tavalaei M, Mowla S. Experimental verification of a predicted novel microRNA located in human PIK3CA gene with a potential oncogenic function in colorectal cancer. Tumour Biol. 2016;37:14089-14101 pubmed
    ..PIK3CA-miR1 overexpression also resulted in Wnt signaling upregulation detected by Top/Fop assay...
  55. Yan X, Lin Z, Chen F, Zhao X, Chen H, Ning Y, et al. Human BAMBI cooperates with Smad7 to inhibit transforming growth factor-beta signaling. J Biol Chem. 2009;284:30097-104 pubmed publisher
    ..These findings provide a novel insight to understand the molecular mechanism underlying the inhibitory effect of BAMBI on TGF-beta signaling. ..
  56. Hennika T, Becher O. Diffuse Intrinsic Pontine Glioma: Time for Cautious Optimism. J Child Neurol. 2016;31:1377-85 pubmed publisher
    ..3/H3.1 mutations in 80% and ACVR1 mutations in 25% of diffuse intrinsic pontine gliomas, providing renewed hope for future success in identifying ..
  57. Arrúa A, Curutchet M, Rey N, Barreto P, Golovchenko N, Sellanes A, et al. Impact of front-of-pack nutrition information and label design on children's choice of two snack foods: Comparison of warnings and the traffic-light system. Appetite. 2017;116:139-146 pubmed publisher
    ..The aim of the present work was to evaluate the relative influence of two front-of-pack (FOP) nutrition labelling schemes, the traffic light system and Chilean warning system, and label design on children's ..
  58. Kaplan F, Zeitlin L, Dunn S, Benor S, Hagin D, Al Mukaddam M, et al. Acute and chronic rapamycin use in patients with Fibrodysplasia Ossificans Progressiva: A report of two cases. Bone. 2018;109:281-284 pubmed publisher
    Fibrodysplasia Ossificans Progressiva (FOP) is an ultrarare genetic disorder of progressive, disabling heterotopic ossification for which there is presently no definitive treatment...
  59. Carter K, Gonzalez Vallejo C. Nutrient-specific system versus full fact panel: Testing the benefits of nutrient-specific front-of-package labels in a student sample. Appetite. 2018;125:512-526 pubmed publisher
    ..information highlighted; nutrients highly related to nutritional quality highlighted using a front-of-package (FOP) label; and nutrients unrelated to nutritional quality highlighted using a FOP label...
  60. Williams E, Bullock A. Structural basis for the potent and selective binding of LDN-212854 to the BMP receptor kinase ALK2. Bone. 2018;109:251-258 pubmed publisher
    ..gain of function mutation in the intracellular region of the BMP type I receptor kinase ALK2, encoded by the gene ACVR1. Small molecule BMP type I receptor inhibitors that block this ossification in FOP mouse models have been derived ..
  61. Lucotte G, Semonin O, Lutz P. A de novo heterozygous deletion of 42 base-pairs in the noggin gene of a fibrodysplasia ossificans progressiva patient. Clin Genet. 1999;56:469-70 pubmed
  62. Carvalho D, Navarro M, Martins B, Coelho K, Mello W, Takata R, et al. Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patients. Clin Genet. 2010;77:171-6 pubmed publisher
    ..A specific heterozygous mutation (c.617G> A; p.R206H) in the activin A type I receptor gene (ACVR1) is regarded as the genetic cause of FOP in all classically affected individuals worldwide...
  63. Kaplan F, Kobori J, Orellana C, Calvo I, Roselló M, Martinez F, et al. Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva (ACVR1 c.772G>A; R258G): A report of two patients. Am J Med Genet A. 2015;167A:2265-71 pubmed publisher
    ..Both children had an identical mutation in ACVR1 c.772A>G; p.Arg258Gly (R258G), not previously described in FOP...
  64. Srivastava S, Panda D. A centrosomal protein FOR20 regulates microtubule assembly dynamics and plays a role in cell migration. Biochem J. 2017;474:2841-2859 pubmed publisher
    Here, we report that a centrosomal protein FOR20 [FOP (FGFR1 (fibroblast growth factor receptor 1) oncogene protein)-like protein of molecular mass of 20?kDa; also named as C16orf63, FLJ31153 or PHSECRG2] can regulate the assembly and ..
  65. Eekhoff E, Botman E, Coen Netelenbos J, de Graaf P, Bravenboer N, Micha D, et al. [18F]NaF PET/CT scan as an early marker of heterotopic ossification in fibrodysplasia ossificans progressiva. Bone. 2018;109:143-146 pubmed publisher
    Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease with a progressive course characterized by episodically local flare-ups, which often but not always leads to heterotopic bone formation (HO)...
  66. Mhurchu C, Eyles H, Choi Y. Effects of a Voluntary Front-of-Pack Nutrition Labelling System on Packaged Food Reformulation: The Health Star Rating System in New Zealand. Nutrients. 2017;9: pubmed publisher
    Interpretive, front-of-pack (FOP) nutrition labels may encourage reformulation of packaged foods...
  67. Hamasaki M, Hashizume Y, Yamada Y, Katayama T, Hohjoh H, Fusaki N, et al. Pathogenic mutation of ALK2 inhibits induced pluripotent stem cell reprogramming and maintenance: mechanisms of reprogramming and strategy for drug identification. Stem Cells. 2012;30:2437-49 pubmed publisher
    ..FOP is caused by mutations in activin receptor-like kinase 2 (ALK2) that cause its constitutive activation and result in dysregulation of BMP signaling...
  68. Wahedi M, Wortham A, Kleven M, Zhao N, Jue S, Enns C, et al. Matriptase-2 suppresses hepcidin expression by cleaving multiple components of the hepcidin induction pathway. J Biol Chem. 2017;292:18354-18371 pubmed publisher
    ..is induced via the bone morphogenetic protein (BMP) signaling pathway that preferentially uses two type I (ALK2 and ALK3) and two type II (ActRIIA and BMPR2) BMP receptors...
  69. Dokanehiifard S, Soltani B. Hsa-miR-11181 regulates Wnt signaling pathway through targeting of APC2 transcripts in SW480 cell line. Gene. 2018;641:297-302 pubmed publisher
    ..TOP/FOP flash assay indicated up-regulation of Wnt signaling, following the overexpression of hsa-miR-11181, verified ..
  70. Acton R, Hammond D. The impact of price and nutrition labelling on sugary drink purchases: Results from an experimental marketplace study. Appetite. 2018;121:129-137 pubmed publisher
    To examine the effect of front-of-package (FOP) nutrition labelling and sugary drink taxation on consumer beverage purchases...
  71. Attisano L, Carcamo J, Ventura F, Weis F, Massague J, Wrana J. Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors. Cell. 1993;75:671-80 pubmed
    ..The results indicate that type I receptors are transmembrane protein kinases that associate with type II receptors to generate diverse heteromeric serine/threonine kinase complexes of different signaling capacities. ..
  72. Karbiener M, Neuhold C, Opriessnig P, Prokesch A, Bogner Strauss J, Scheideler M. MicroRNA-30c promotes human adipocyte differentiation and co-represses PAI-1 and ALK2. RNA Biol. 2011;8:850-60 pubmed publisher
    ..miRNA target prediction revealed two putative direct targets of miR-30c, PAI-1 (SERPINE1) and ALK2 (ACVR1, ACTRI), both inversely regulated to miR-30c during adipogenesis and responsive to miR-30c overexpression...
  73. Samitas K, Poulos N, Semitekolou M, Morianos I, Tousa S, Economidou E, et al. Activin-A is overexpressed in severe asthma and is implicated in angiogenic processes. Eur Respir J. 2016;47:769-82 pubmed publisher
    ..Activin-A is overexpressed and has anti-angiogenic effects in vitro that are not propagated in vivo, where reduced basal expression of its receptors is observed particularly in severe asthma. ..
  74. Komatsubara M, Hara T, Hosoya T, Toma K, Tsukamoto Yamauchi N, Iwata N, et al. Melatonin regulates catecholamine biosynthesis by modulating bone morphogenetic protein and glucocorticoid actions. J Steroid Biochem Mol Biol. 2017;165:182-189 pubmed publisher
    ..Of note, melatonin significantly upregulated Alk2 and Bmpr2 mRNA levels but suppressed inhibitory Smad6/7 expression, leading to the enhancement of SMAD1/5/8 ..
  75. Hildebrand L, Stange K, Deichsel A, Gossen M, Seemann P. The Fibrodysplasia Ossificans Progressiva (FOP) mutation p.R206H in ACVR1 confers an altered ligand response. Cell Signal. 2017;29:23-30 pubmed publisher
    ..Cause of the disease are point mutations in the Activin A receptor type 1 (ACVR1), with p.R206H being most common...
  76. Vambheim S, Lyby P, Aslaksen P, Flaten M, Asli O, Bjørkedal E, et al. Developing a model for measuring fear of pain in Norwegian samples: The Fear of Pain Questionnaire Norway. Scand J Pain. 2017;17:425-430 pubmed publisher
    ..of Pain Questionnaire Short Form (FPQ-SF) are self-report inventories developed for assessment of fear of pain (FOP)...
  77. Nishita M, Ueno N, Shibuya H. Smad8B, a Smad8 splice variant lacking the SSXS site that inhibits Smad8-mediated signalling. Genes Cells. 1999;4:583-91 pubmed
    ..Smad8 is a downstream signalling mediator of ALK2/ActRIA. We have cloned a splice variant of Smad8, designated Smad8B...
  78. Kevenaar M, Themmen A, van Kerkwijk A, Valkenburg O, Uitterlinden A, de Jong F, et al. Variants in the ACVR1 gene are associated with AMH levels in women with polycystic ovary syndrome. Hum Reprod. 2009;24:241-9 pubmed publisher
    ..Seven single nucleotide polymorphisms in the ACVR1 gene, encoding ALK2, were genotyped in 359 PCOS patients and 30 normo-ovulatory and 3543 population-based control ..
  79. 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. ..
  80. Hino K, Ikeya M, Horigome K, Matsumoto Y, Ebise H, Nishio M, et al. Neofunction of ACVR1 in fibrodysplasia ossificans progressiva. Proc Natl Acad Sci U S A. 2015;112:15438-43 pubmed publisher
    ..FOP patients harbor point mutations in ACVR1 (also known as ALK2), a type I receptor for bone morphogenetic protein (BMP)...
  81. Casagrandi D, Bearfield C, Geary J, Redman C, Muttukrishna S. Inhibin, activin, follistatin, activin receptors and beta-glycan gene expression in the placental tissue of patients with pre-eclampsia. Mol Hum Reprod. 2003;9:199-203 pubmed
    ..The mechanism(s) involved in increased gene expression in pre-eclampsia is as yet unclear. ..
  82. Chakkalakal S, Uchibe K, Convente M, Zhang D, Economides A, Kaplan F, et al. Palovarotene Inhibits Heterotopic Ossification and Maintains Limb Mobility and Growth in Mice With the Human ACVR1(R206H) Fibrodysplasia Ossificans Progressiva (FOP) Mutation. J Bone Miner Res. 2016;31:1666-75 pubmed publisher
    ..Most FOP patients carry an activating mutation in a bone morphogenetic protein (BMP) type I receptor gene, ACVR1(R206H) , that promotes ectopic chondrogenesis and osteogenesis and, in turn, HO...
  83. Barruet E, Morales B, Lwin W, White M, Theodoris C, Kim H, et al. The ACVR1 R206H mutation found in fibrodysplasia ossificans progressiva increases human induced pluripotent stem cell-derived endothelial cell formation and collagen production through BMP-mediated SMAD1/5/8 signaling. Stem Cell Res Ther. 2016;7:115 pubmed publisher
    ..disease of heterotopic ossification caused by an activating R206H mutation in the Activin A type I receptor (ACVR1)...
  84. Al Mukaddam M, Rajapakse C, Pignolo R, Kaplan F, Smith S. Imaging assessment of fibrodysplasia ossificans progressiva: Qualitative, quantitative and questionable. Bone. 2018;109:147-152 pubmed publisher
    Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare autosomal dominant genetic disorder of heterotopic ossification (HO) characterized by skeletal anomalies and episodic soft tissue swelling (flare-ups) that can transform into ..
  85. Brennan T, Lindborg C, Bergbauer C, Wang H, Kaplan F, Pignolo R. Mast cell inhibition as a therapeutic approach in fibrodysplasia ossificans progressiva (FOP). Bone. 2018;109:259-266 pubmed publisher
    Episodic flare-ups of fibrodysplasia ossificans progressiva (FOP) are characterized clinically by severe, often posttraumatic, connective tissue swelling and intramuscular edema, followed histologically by an intense and highly ..
  86. Convente M, Chakkalakal S, Yang E, Caron R, Zhang D, Kambayashi T, et al. Depletion of Mast Cells and Macrophages Impairs Heterotopic Ossification in an Acvr1R206H Mouse Model of Fibrodysplasia Ossificans Progressiva. J Bone Miner Res. 2017;: pubmed publisher
    ..a recurrent heterozygous gain-of-function mutation (R206H) in the bone morphogenetic protein (BMP) type I receptor ACVR1/ALK2. In individuals with FOP, episodes of HO frequently follow injury...
  87. Levesque J, Sims N, Pettit A, Alexander K, Tseng H, Torossian F, et al. Macrophages driving heterotopic ossification: Convergence of genetically-driven and trauma-driven mechanisms. J Bone Miner Res. 2017;: pubmed publisher
    ..Research by Convente and colleagues "Depletion of mast cells and macrophage impairs heterotopic ossification in an Acvr1R206H mouse model of fibrodysplasia ossificans progressiva"...
  88. Pardali E, Xie X, Tsapogas P, Itoh S, Arvanitidis K, Heldin C, et al. Smad and AML proteins synergistically confer transforming growth factor beta1 responsiveness to human germ-line IgA genes. J Biol Chem. 2000;275:3552-60 pubmed
    ..Considering the wide range of biological phenomena that AMLs and Smads regulate, the physical/functional interplay between them has implications that extend beyond the regulation of class switching to IgA. ..
  89. Raja E, Komuro A, Tanabe R, Sakai S, Ino Y, Saito N, et al. Bone morphogenetic protein signaling mediated by ALK-2 and DLX2 regulates apoptosis in glioma-initiating cells. Oncogene. 2017;36:4963-4974 pubmed publisher
    ..Here, we demonstrated that the BMP type I receptor ALK-2 (encoded by the ACVR1 gene) has crucial roles in apoptosis induction of patient-derived glioma-initiating cells (GICs), TGS-01 and TGS-..
  90. Katagiri T, Tsukamoto S, Kuratani M. Heterotopic bone induction via BMP signaling: Potential therapeutic targets for fibrodysplasia ossificans progressiva. Bone. 2018;109:241-250 pubmed publisher
    ..In patients with FOP, genetic mutations have been identified in the ACVR1 gene, which encodes the BMP receptor ALK2...
  91. 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. ..
  92. Kartal Kaess M, Shore E, Xu M, Schwering L, Uhl M, Korinthenberg R, et al. Fibrodysplasia ossificans progressiva (FOP): watch the great toes!. Eur J Pediatr. 2010;169:1417-21 pubmed publisher
    ..All patients have malformed great toes. Most patients have a spontaneous mutation of the ACVR1 gene...