| 1 | 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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| 2 | 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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| 3 | 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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| 4 | 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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| 5 | 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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| 6 | 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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| 7 | 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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| 8 | 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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| 9 | 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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| 10 | 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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| 11 | 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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| 12 | 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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| 13 | 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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| 14 | 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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| 15 | 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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| 16 | 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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| 17 | 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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| 18 | FOP, ACVR1
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| When bone becomes your enemy: fibrodysplasia ossificans progressiva.
|
| Timmerman MK.
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| Clin Genet 70(3):193-5. 2006
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| 19 | 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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| 20 | BMPR1A,FOP
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| Fibrodysplasia ossificans progressiva (FOP), a disorder of ectopic osteogenesis, misregulates cell surface expression and trafficking of BMPRIA.
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| de la Pena LS, Billings PC, Fiori JL, Ahn J, Kaplan FS, Shore EM.
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| J Bone Miner Res 20(7):1168-76. Epub 2005 Mar 7. 2005
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