| 1 | ACVR1, GDF11, MRPL53, RORA, SHH
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| Variant Analyses of Candidate Genes in Orofacial Clefts in Multi-Ethnic Populations.
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| Li M, Olotu J, Buxo-Martinez CJ, Mossey PA, Anand D, Busch T, Alade A, Gowans LJJ, Eshete M, Adeyemo WL, Naicker T, Awotoye WO, Gupta S, Adeleke C, Bravo V, Huang S, Adamson OO, Toraño AM, Bello CA, Soto M, Soto M, Ledesma R, Marquez M, Cordero JF, Lopez-Del Valle LM, Salcedo MI, Debs N, Petrin A, Malloy H, Elhadi K, James O, Ogunlewe MO, Abate F, Hailu A, Mohammed I, Gravem P, Deribew M, Gesses M, Hassan M, Pape J, Obiri-Yeboah S, Arthur FKN, Oti AA, Donkor P, Marazita ML, Lachke SA, Adeyemo AA, Murray JC, Butali A.
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| Oral Dis. Jun 1. doi: 10.1111/odi.13932. Epub ahead of print. 2021
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| 2 | ACVR1, FKBP1A
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| The immunophilin FKBP12 inhibits hepcidin expression by binding the BMP type I receptor ALK2 in hepatocytes.
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| Colucci S, Pagani A, Pettinato M, Artuso I, Nai A, Camaschella C, Silvestri L.
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| Blood 130(19):2111-2120. doi: 10.1182/blood-2017-04-780692. Epub 2017 Sep 1.
2017
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| 3 | ACVR1, FOP
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| AMPK downregulates ALK2 via increasing the interaction between Smurf1 and Smad6, leading to inhibition of osteogenic differentiation.
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| Lin H, Ying Y, Wang YY, Wang G, Jiang SS, Huang D, Luo L, Chen YG, Gerstenfeld LC, Luo Z.
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| Biochim Biophys Acta 1864(12):2369-2377. doi: 10.1016/j.bbamcr.2017.08.009. Epub 2017 Aug 25.
2017
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| 4 | ACVR1, BMP10, GDF2
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| Bone morphogenetic protein 9 (BMP9) and BMP10 enhance tumor necrosis factor-α-induced monocyte recruitment to the vascular endothelium mainly via activin receptor-like kinase 2.
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| Mitrofan CG, Appleby SL, Nash GB, Mallat Z, Chilvers ER, Upton PD, Morrell NW.
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| J Biol Chem 292(33):13714-13726. doi: 10.1074/jbc.M117.778506. Epub 2017 Jun 23.
2017
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| 5 | ACVR1, DLX2
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| Bone morphogenetic protein signaling mediated by ALK-2 and DLX2 regulates apoptosis in glioma-initiating cells.
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| Raja E, Komuro A, Tanabe R, Sakai S, Ino Y, Saito N, Todo T, Morikawa M, Aburatani H, Koinuma D, Iwata C, Miyazono K.
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| Oncogene 36(35):4963-4974. doi: 10.1038/onc.2017.112. Epub 2017 May 1.
2017
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| 6 | ACVR1, FOP
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| The Fibrodysplasia Ossificans Progressiva (FOP) mutation p.R206H in ACVR1 confers an altered ligand response.
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| Hildebrand L, Stange K, Deichsel A, Gossen M, Seemann P.
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| Cell Signal 29:23-30. doi: 10.1016/j.cellsig.2016.10.001. Epub 2016 Oct 4.
2017
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| 7 | ACVR1
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| Common mutations in ALK2/ACVR1, a multi-faceted receptor, have roles in distinct pediatric musculoskeletal and neural orphan disorders.
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| Pacifici M, Shore EM.
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| Cytokine Growth Factor Rev 27:93-104. doi: 10.1016/j.cytogfr.2015.12.007. Epub 2015 Dec 28. Review.
2016
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| 8 | ACVR1, FOP
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| ACVR1R206H receptor mutation causes fibrodysplasia ossificans progressiva by imparting responsiveness to activin A.
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| Hatsell SJ, Idone V, Wolken DM, Huang L, Kim HJ, Wang L, Wen X, Nannuru KC, Jimenez J, Xie L, Das N, Makhoul G, Chernomorsky R, D'Ambrosio D, Corpina RA, Schoenherr CJ, Feeley K, Yu PB, Yancopoulos GD, Murphy AJ, Economides AN.
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| Sci Transl Med 7(303):303ra137. doi: 10.1126/scitranslmed.aac4358.
2015
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| 9 | ACVR1, BMPR1A, BMPR1B
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| The type I BMP receptor ACVR1/ALK2 is required for chondrogenesis during development.
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| Rigueur D, Brugger S, Anbarchian T, Kim JK, Lee Y, Lyons KM.
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| J Bone Miner Res 30(4):733-41. doi: 10.1002/jbmr.2385.
2015
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| 10 | ACVR1, FOP
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| Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma.
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| Taylor KR, Mackay A, Truffaux N, Butterfield Y, Morozova O, Philippe C, Castel D, Grasso CS, Vinci M, Carvalho D, Carcaboso AM, de Torres C, Cruz O, Mora J, Entz-Werle N, Ingram WJ, Monje M, Hargrave D, Bullock AN, Puget S, Yip S, Jones C, Grill J.
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| Nat Genet 46(5):457-461. doi: 10.1038/ng.2925. Epub 2014 Apr 6.
2014
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| 11 | ACVR1, FOP
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| Alk2 regulates early chondrogenic fate in fibrodysplasia ossificans progressiva heterotopic endochondral ossification.
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| Culbert AL, Chakkalakal SA, Theosmy EG, Brennan TA, Kaplan FS, Shore EM.
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| Stem Cells 32(5):1289-300. doi: 10.1002/stem.1633.
2014
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| 12 | ACVR1
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| Identification and characterization of regulatory elements in the promoter of ACVR1, the gene mutated in Fibrodysplasia Ossificans Progressiva.
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| Giacopelli F, Cappato S, Tonachini L, Mura M, Di Lascio S, Fornasari D, Ravazzolo R, Bocciardi R.
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| Orphanet J Rare Dis 8:145. doi: 10.1186/1750-1172-8-145.
2013
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| 13 | ACVR1
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| Constitutively active ALK2 receptor mutants require type II receptor cooperation.
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| Bagarova J, Vonner AJ, Armstrong KA, Börgermann J, Lai CS, Deng DY, Beppu H, Alfano I, Filippakopoulos P, Morrell NW, Bullock AN, Knaus P, Mishina Y, Yu PB.
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| Mol Cell Biol 33(12):2413-24. doi: 10.1128/MCB.01595-12. Epub 2013 Apr 9. Erratum in: Mol Cell Biol. 2017 Sep 12;37(19):.
2013
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| 14 | ACVR1, FOP
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| CNS demyelination in fibrodysplasia ossificans progressiva.
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| Kan L, Kitterman JA, Procissi D, Chakkalakal S, Peng CY, McGuire TL, Goldsby RE, Pignolo RJ, Shore EM, Kaplan FS, Kessler JA.
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| J Neurol Neurol. 2012 Jun 27. [Epub ahead of print]
2012
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| 15 | ACVR1, FOP
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| The face signature of fibrodysplasia ossificans progressiva.
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| Hammond P, Suttie M, Hennekam RC, Allanson J, Shore EM, Kaplan FS.
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| Am J Med Genet A 158A(6):1368-80. doi: 10.1002/ajmg.a.35346. Epub 2012 May 11.
2012
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| 16 | ACVR1
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| Deficient signaling via Alk2 (Acvr1) leads to bicuspid aortic valve development.
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| Thomas PS, Sridurongrit S, Ruiz-Lozano P, Kaartinen V.
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| PLoS One 7(4):e35539. Epub 2012 Apr 19.
2012
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| 17 | ACVR1, BMPR1A, TGFBR1, TGFBR3
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| Endocardial cell epithelial-mesenchymal transformation requires Type III TGFβ receptor interaction with GIPC.
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| Townsend TA, Robinson JY, How T, DeLaughter DM, Blobe GC, Barnett JV.
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| Cell Signal 24(1):247-56. doi: 10.1016/j.cellsig.2011.09.006. Epub 2011 Sep 14.
2012
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| 18 | ACVR1, FOP
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| Structure of the bone morphogenetic protein receptor ALK2 and implications for fibrodysplasia ossificans progressiva.
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| Chaikuad A, Alfano I, Kerr G, Sanvitale CE, Boergermann JH, Triffitt JT, von Delft F, Knapp S, Knaus P, Bullock AN.
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| J Biol Chem 287(44):36990-8. doi: 10.1074/jbc.M112.365932. Epub 2012 Sep 12.
2012
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| 19 | ACVR1, FOP
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| 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.
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| Ohte S, Shin M, Sasanuma H, Yoneyama K, Akita M, Ikebuchi K, Jimi E, Maruki Y, Matsuoka M, Namba A, Tomoda H, Okazaki Y, Ohtake A, Oda H, Owan I, Yoda T, Furuya H, Kamizono J, Kitoh H, Nakashima Y, Susami T, Haga N, Komori T, Katagiri T.
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| Biochem Biophys Res Commun 407(1):213-8. Epub 2011 Mar 4.
2011
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| 20 | ACVR1
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| Cell cycle arrest in node cells governs ciliogenesis at the node to break left-right symmetry.
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| Komatsu Y, Kaartinen V, Mishina Y.
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| Development 138(18):3915-20. Epub 2011 Aug 10. Erratum in: Development. 2011 Oct;138(19):4334.
2011
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| 21 | ACVR1
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| ALK2 mutation in a patient with Down's syndrome and a congenital heart defect.
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| Joziasse IC, Smith KA, Chocron S, van Dinther M, Guryev V, van de Smagt JJ, Cuppen E, Ten Dijke P, Mulder BJ, Maslen CL, Reshey B, Doevendans PA, Bakkers J.
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| Eur J Hum Genet 19(4):389-93. Epub 2011 Jan 19.
2011
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| 22 | ACVR1, BMP7, DKK1, SOST
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| Loss-of-function of ACVR1 in osteoblasts increases bone mass and activates canonical Wnt signaling through suppression of Wnt inhibitors SOST and DKK1.
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| Kamiya N, Kaartinen VM, Mishina Y.
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| Biochem Biophys Res Commun 414(2):326-30. doi: 10.1016/j.bbrc.2011.09.060. Epub 2011 Sep 17.
2011
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| 23 | ACVR1, FOP
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| Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patients.
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| Carvalho DR, Navarro MM, Martins BJ, Coelho KE, Mello WD, Takata RI, Speck-Martins CE.
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| Clin Genet 77(2):171-6. Epub 2009 Oct 1.PMID: 1979618 2010
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| 24 | ACVR1, FOP
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| Molecular consequences of the ACVR1(R206H) mutation of fibrodysplasia ossificans progressiva.
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| Song GA, Kim HJ, Woo KM, Baek JH, Kim GS, Choi JY, Ryoo HM.
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| J Biol Chem 285(29):22542-53. Epub 2010 May 12.
2010
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| 25 | ACVR1, FOP, SMAD1, SMAD5
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| Constitutively activated ALK2 and increased SMAD1/5 cooperatively induce bone morphogenetic protein signaling in fibrodysplasia ossificans progressiva.
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| Fukuda T, Kohda M, Kanomata K, Nojima J, Nakamura A, Kamizono J, Noguchi Y, Iwakiri K, Kondo T, Kurose J, Endo K, Awakura T, Fukushi J, Nakashima Y, Chiyonobu T, Kawara A, Nishida Y, Wada I, Akita M, Komori T, Nakayama K, Nanba A, Maruki Y, Yoda T, Tomoda H, Yu PB, Shore EM, Kaplan FS, Miyazono K, Matsuoka M, Ikebuchi K, Ohtake A, Oda H, Jimi E, Owan I, Okazaki Y, Katagiri T.
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| J Biol Chem 284(11):7149-56. Epub 2008 Aug 6.
2009
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| 26 | ACVR1, FOP
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| Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements.
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| Bocciardi R, Bordo D, Di Duca M, Di Rocco M, Ravazzolo R.
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| Eur J Hum Genet 17(3):311-8. Epub 2008 Oct 1.
2009
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| 27 | ACVR1, BMPR1A
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| The type I BMP receptors, Bmpr1a and Acvr1, activate multiple signaling pathways to regulate lens formation.
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| Rajagopal R, Huang J, Dattilo LK, Kaartinen V, Mishina Y, Deng CX, Umans L, Zwijsen A, Roberts AB, Beebe DC.
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| Dev Biol 335(2):305-16. Epub 2009 Sep 3.
2009
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| 28 | FOP, ACVR1
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| A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H).
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| Furuya H, Ikezoe K, Wang L, Ohyagi Y, Motomura K, Fujii N, Kira J, Fukumaki Y.
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| Am J Med Genet A 146(4):459-63. 2008
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| 29 | ACVR1, ALK2
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| Functions of the type 1 BMP receptor Acvr1 (Alk2) in lens development: cell proliferation, terminal differentiation, and survival.
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| Rajagopal R, Dattilo LK, Kaartinen V, Deng CX, Umans L, Zwijsen A, Roberts AB, Bottinger EP, Beebe DC.
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| Invest Ophthalmol Vis Sci. 49(11):4953-60. 2008
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| 30 | ACVR1, FOP
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| A unique mutation of ALK2, G356D, found in a patient with fibrodysplasia ossificans progressiva is a moderately activated BMP type I receptor.
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| Fukuda T, Kanomata K, Nojima J, Kokabu S, Akita M, Ikebuchi K, Jimi E, Komori T, Maruki Y, Matsuoka M, Miyazono K, Nakayama K, Nanba A, Tomoda H, Okazaki Y, Ohtake A, Oda H, Owan I, Yoda T, Haga N, Furuya H, Katagiri T.
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| Biochem Biophys Res Commun 377(3):905-9. Epub 2008 Oct 24.
2008
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| 31 | ACVR1, FOP
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| BMP type I receptor inhibition reduces heterotopic [corrected] ossification.
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| Yu PB, Deng DY, Lai CS, Hong CC, Cuny GD, Bouxsein ML, Hong DW, McManus PM, Katagiri T, Sachidanandan C, Kamiya N, Fukuda T, Mishina Y, Peterson RT, Bloch KD.
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| Nat Med 14(12):1363-9. Epub 2008 Nov 30. Erratum in: Nat Med. 2009 Jan;15(1):117.
2008
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| 32 | ACVR1,FOP
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| The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva.
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| Nakajima M, Haga N, Takikawa K, Manabe N, Nishimura G, Ikegawa S.
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| J Hum Genet 52(5):473-5. Epub 2007 Mar 10. 2007
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| 33 | FOP, ACVR1
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| When bone becomes your enemy: fibrodysplasia ossificans progressiva.
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| Timmerman MK.
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| Clin Genet 70(3):193-5. 2006
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| 34 | ACVR1, FOP
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| A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.
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| Shore EM, Xu M, Feldman GJ, Fenstermacher DA, Brown MA, Kaplan FS.
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| Nat Genet 38(5):525-527. Epub 2006 Apr 23. 2006
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| 35 | ACVR1
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| ALK2 functions as a BMP type I receptor and induces Indian hedgehog in chondrocytes during skeletal development.
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| Zhang D, Schwarz EM, Rosier RN, Zuscik MJ, Puzas JE, O'Keefe RJ.
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| J Bone Miner Res 18(9):1593-604. 2003
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| 36 | ACVR1, ACVR1B, ACVRL1
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| Chromosomal localization of three human genes encoding members of the TGF-beta superfamily of type I serine/threonine kinase receptors.
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| Ršijer E, et al.
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| Mamm Genome 9 : 266-268. 1998
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| 37 | ACVR1, ACVR1B, ACVRL1, BMPR1A, BMPR1B, TGFBR1
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| Activin receptor-like kinases : a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity.
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| ten Dijke P, Ichijo H, Franzen P, Schulz P, Saras J, Toyoshima H, Heldin CH, Miyazono K.
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| Oncogene 8 : 2879-2887. 1993
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| 38 | ACVR1
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| A widely expressed transmembrane serine/threonine kinase that does not bind activin, inhibin, transforming growth factor beta, or bone morphogenic factor.
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| Matsuzaki K, Xu J, Wang F, McKeehan WL, Krummen L, Kan M.
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| J Biol Chem 268(17):12719-23. 1993
|