223 related articles for article (PubMed ID: 34003511)
1. Pathogenic ACVR1
Ramachandran A; Mehić M; Wasim L; Malinova D; Gori I; Blaszczyk BK; Carvalho DM; Shore EM; Jones C; Hyvönen M; Tolar P; Hill CS
EMBO J; 2021 Jul; 40(14):e106317. PubMed ID: 34003511
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. The Fibrodysplasia Ossificans Progressiva (FOP) mutation p.R206H in ACVR1 confers an altered ligand response.
Hildebrand L; Stange K; Deichsel A; Gossen M; Seemann P
Cell Signal; 2017 Jan; 29():23-30. PubMed ID: 27713089
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Activin A forms a non-signaling complex with ACVR1 and type II Activin/BMP receptors via its finger 2 tip loop.
Aykul S; Corpina RA; Goebel EJ; Cunanan CJ; Dimitriou A; Kim HJ; Zhang Q; Rafique A; Leidich R; Wang X; McClain J; Jimenez J; Nannuru KC; Rothman NJ; Lees-Shepard JB; Martinez-Hackert E; Murphy AJ; Thompson TB; Economides AN; Idone V
Elife; 2020 Jun; 9():. PubMed ID: 32515349
[TBL] [Abstract][Full Text] [Related]
7. Overexpression of Wild-Type ACVR1 in Fibrodysplasia Ossificans Progressiva Mice Rescues Perinatal Lethality and Inhibits Heterotopic Ossification.
Yamamoto M; Stoessel SJ; Yamamoto S; Goldhamer DJ
J Bone Miner Res; 2022 Nov; 37(11):2077-2093. PubMed ID: 35637634
[TBL] [Abstract][Full Text] [Related]
8. The obligatory role of Activin A in the formation of heterotopic bone in Fibrodysplasia Ossificans Progressiva.
Alessi Wolken DM; Idone V; Hatsell SJ; Yu PB; Economides AN
Bone; 2018 Apr; 109():210-217. PubMed ID: 28629737
[TBL] [Abstract][Full Text] [Related]
9. Molecular consequences of the ACVR1(R206H) mutation of fibrodysplasia ossificans progressiva.
Song GA; Kim HJ; Woo KM; Baek JH; Kim GS; Choi JY; Ryoo HM
J Biol Chem; 2010 Jul; 285(29):22542-53. PubMed ID: 20463014
[TBL] [Abstract][Full Text] [Related]
10. AAV-Mediated Targeting of the Activin A-ACVR1
Yang YS; Lin C; Ma H; Xie J; Kaplan FS; Gao G; Shim JH
Biomolecules; 2023 Sep; 13(9):. PubMed ID: 37759764
[TBL] [Abstract][Full Text] [Related]
11. Functional Testing of Bone Morphogenetic Protein (BMP) Pathway Variants Identified on Whole-Exome Sequencing in a Patient with Delayed-Onset Fibrodysplasia Ossificans Progressiva (FOP) Using ACVR1
Wentworth KL; Lalonde RL; Groppe JC; Brewer N; Moody T; Hansberry S; Taylor KE; Shore EM; Kaplan FS; Pignolo RJ; Yelick PC; Hsiao EC
J Bone Miner Res; 2022 Nov; 37(11):2058-2076. PubMed ID: 36153796
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Fibrodysplasia ossificans progressiva mutant ACVR1 signals by multiple modalities in the developing zebrafish.
Allen RS; Tajer B; Shore EM; Mullins MC
Elife; 2020 Sep; 9():. PubMed ID: 32897189
[TBL] [Abstract][Full Text] [Related]
15. Variable signaling activity by FOP ACVR1 mutations.
Haupt J; Xu M; Shore EM
Bone; 2018 Apr; 109():232-240. PubMed ID: 29097342
[TBL] [Abstract][Full Text] [Related]
16. The Activation of the Fibrodysplasia Ossificans Progressiva-Inducing ALK2-R206H Mutant Depends on the Distinct Homo-Oligomerization Patterns of ACVR2B and ACVR2A.
Szilágyi SS; Burdzinski W; Jatzlau J; Ehrlich M; Knaus P; Henis YI
Cells; 2024 Jan; 13(3):. PubMed ID: 38334613
[TBL] [Abstract][Full Text] [Related]
17. The fibrodysplasia ossificans progressiva R206H ACVR1 mutation activates BMP-independent chondrogenesis and zebrafish embryo ventralization.
Shen Q; Little SC; Xu M; Haupt J; Ast C; Katagiri T; Mundlos S; Seemann P; Kaplan FS; Mullins MC; Shore EM
J Clin Invest; 2009 Nov; 119(11):3462-72. PubMed ID: 19855136
[TBL] [Abstract][Full Text] [Related]
18. Activin-dependent signaling in fibro/adipogenic progenitors causes fibrodysplasia ossificans progressiva.
Lees-Shepard JB; Yamamoto M; Biswas AA; Stoessel SJ; Nicholas SE; Cogswell CA; Devarakonda PM; Schneider MJ; Cummins SM; Legendre NP; Yamamoto S; Kaartinen V; Hunter JW; Goldhamer DJ
Nat Commun; 2018 Feb; 9(1):471. PubMed ID: 29396429
[TBL] [Abstract][Full Text] [Related]
19. Shared ACVR1 mutations in FOP and DIPG: Opportunities and challenges in extending biological and clinical implications across rare diseases.
Han HJ; Jain P; Resnick AC
Bone; 2018 Apr; 109():91-100. PubMed ID: 28780023
[TBL] [Abstract][Full Text] [Related]
20. Insight into Molecular Mechanism for Activin A-Induced Bone Morphogenetic Protein Signaling.
Xie C; Jiang W; Lacroix JJ; Luo Y; Hao J
Int J Mol Sci; 2020 Sep; 21(18):. PubMed ID: 32899497
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
