172 related articles for article (PubMed ID: 19099712)
1. [A Chinese girl with fibrodysplasia ossificans progressiva caused by a de novo mutation R206H in ACVR1 gene].
Zhou Q; Meng Y; Su L; Zhao SM; Shi HP; Huang SZ
Zhonghua Er Ke Za Zhi; 2008 Mar; 46(3):215-9. PubMed ID: 19099712
[TBL] [Abstract][Full Text] [Related]
2. The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva.
Nakajima M; Haga N; Takikawa K; Manabe N; Nishimura G; Ikegawa S
J Hum Genet; 2007; 52(5):473-475. PubMed ID: 17351709
[TBL] [Abstract][Full Text] [Related]
3. De novo 617G-A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva.
Lin GT; Chang HW; Liu CS; Huang PJ; Wang HC; Cheng YM
J Hum Genet; 2006; 51(12):1083-1086. PubMed ID: 17077940
[TBL] [Abstract][Full Text] [Related]
4. ACVR1 gene mutation in sporadic Korean patients with fibrodysplasia ossificans progressiva.
Lee DY; Cho TJ; Lee HR; Park MS; Yoo WJ; Chung CY; Choi IH
J Korean Med Sci; 2009 Jun; 24(3):433-7. PubMed ID: 19543505
[TBL] [Abstract][Full Text] [Related]
5. A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene.
Cappato S; Traberg R; Gintautiene J; Zara F; Bocciardi R
Mol Genet Genomic Med; 2021 Oct; 9(10):e1774. PubMed ID: 34347384
[TBL] [Abstract][Full Text] [Related]
6. Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.
Kaplan FS; Xu M; Seemann P; Connor JM; Glaser DL; Carroll L; Delai P; Fastnacht-Urban E; Forman SJ; Gillessen-Kaesbach G; Hoover-Fong J; Köster B; Pauli RM; Reardon W; Zaidi SA; Zasloff M; Morhart R; Mundlos S; Groppe J; Shore EM
Hum Mutat; 2009 Mar; 30(3):379-90. PubMed ID: 19085907
[TBL] [Abstract][Full Text] [Related]
7. A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H).
Furuya H; Ikezoe K; Wang L; Ohyagi Y; Motomura K; Fujii N; Kira J; Fukumaki Y
Am J Med Genet A; 2008 Feb; 146A(4):459-63. PubMed ID: 18203193
[TBL] [Abstract][Full Text] [Related]
8. 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.
Barruet E; Morales BM; Lwin W; White MP; Theodoris CV; Kim H; Urrutia A; Wong SA; Srivastava D; Hsiao EC
Stem Cell Res Ther; 2016 Aug; 7(1):115. PubMed ID: 27530160
[TBL] [Abstract][Full Text] [Related]
9. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.
Shore EM; Xu M; Feldman GJ; Fenstermacher DA; Cho TJ; Choi IH; Connor JM; Delai P; Glaser DL; LeMerrer M; Morhart R; Rogers JG; Smith R; Triffitt JT; Urtizberea JA; Zasloff M; Brown MA; Kaplan FS
Nat Genet; 2006 May; 38(5):525-7. PubMed ID: 16642017
[TBL] [Abstract][Full Text] [Related]
10. Reduced GS Domain Serine/Threonine Requirements of Fibrodysplasia Ossificans Progressiva Mutant Type I BMP Receptor ACVR1 in the Zebrafish.
Allen RS; Jones WD; Hale M; Warder BN; Shore EM; Mullins MC
J Bone Miner Res; 2023 Sep; 38(9):1364-1385. PubMed ID: 37329499
[TBL] [Abstract][Full Text] [Related]
11. ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant.
Haupt J; Deichsel A; Stange K; Ast C; Bocciardi R; Ravazzolo R; Di Rocco M; Ferrari P; Landi A; Kaplan FS; Shore EM; Reissner C; Seemann P
Hum Mol Genet; 2014 Oct; 23(20):5364-77. PubMed ID: 24852373
[TBL] [Abstract][Full Text] [Related]
12. Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements.
Bocciardi R; Bordo D; Di Duca M; Di Rocco M; Ravazzolo R
Eur J Hum Genet; 2009 Mar; 17(3):311-8. PubMed ID: 18830232
[TBL] [Abstract][Full Text] [Related]
13. Skeletal malformations and developmental arthropathy in individuals who have fibrodysplasia ossificans progressiva.
Towler OW; Shore EM; Kaplan FS
Bone; 2020 Jan; 130():115116. PubMed ID: 31655222
[TBL] [Abstract][Full Text] [Related]
14. A recurrent mutation c.617G>A in the ACVR1 gene causes fibrodysplasia ossificans progressiva in two Chinese patients.
Sun Y; Xia W; Jiang Y; Xing X; Li M; Wang O; Zhang H; Hu Y; Liu H; Meng X; Zhou X
Calcif Tissue Int; 2009 May; 84(5):361-5. PubMed ID: 19300893
[TBL] [Abstract][Full Text] [Related]
15. Fibrodysplasia ossificans progressiva (FOP): watch the great toes!
Kartal-Kaess M; Shore EM; Xu M; Schwering L; Uhl M; Korinthenberg R; Niemeyer C; Kaplan FS; Lauten M
Eur J Pediatr; 2010 Nov; 169(11):1417-21. PubMed ID: 20577760
[TBL] [Abstract][Full Text] [Related]
16. ACVR1R206H receptor mutation causes fibrodysplasia ossificans progressiva by imparting responsiveness to activin A.
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
Sci Transl Med; 2015 Sep; 7(303):303ra137. PubMed ID: 26333933
[TBL] [Abstract][Full Text] [Related]
17. Depletion of Mast Cells and Macrophages Impairs Heterotopic Ossification in an Acvr1
Convente MR; Chakkalakal SA; Yang E; Caron RJ; Zhang D; Kambayashi T; Kaplan FS; Shore EM
J Bone Miner Res; 2018 Feb; 33(2):269-282. PubMed ID: 28986986
[TBL] [Abstract][Full Text] [Related]
18. An Acvr1 R206H knock-in mouse has fibrodysplasia ossificans progressiva.
Chakkalakal SA; Zhang D; Culbert AL; Convente MR; Caron RJ; Wright AC; Maidment AD; Kaplan FS; Shore EM
J Bone Miner Res; 2012 Aug; 27(8):1746-56. PubMed ID: 22508565
[TBL] [Abstract][Full Text] [Related]
19. Morpholino-Mediated Exon Skipping Targeting Human ACVR1/ALK2 for Fibrodysplasia Ossificans Progressiva.
Maruyama R; Yokota T
Methods Mol Biol; 2018; 1828():497-502. PubMed ID: 30171563
[TBL] [Abstract][Full Text] [Related]
20. Allele-Selective LNA Gapmers for the Treatment of Fibrodysplasia Ossificans Progressiva Knock Down the Pathogenic ACVR1
Maruyama R; Nguyen Q; Roshmi RR; Touznik A; Yokota T
Nucleic Acid Ther; 2022 Jun; 32(3):185-193. PubMed ID: 35085461
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
