288 related articles for article (PubMed ID: 24259422)
1. ACVR1 (587T>C) mutation in a variant form of fibrodysplasia ossificans progressiva: second report.
Nakahara Y; Katagiri T; Ogata N; Haga N
Am J Med Genet A; 2014 Jan; 164A(1):220-4. PubMed ID: 24259422
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Nonclassic fibrodysplasia ossificans progressiva: A child from Angola with an ACVR1
Martín-García D; Towler OW; Xu M; Alfonso-Hernández O; Oliveira PR; Alonso-Clavo M; Shore EM; Kaplan FS
Am J Med Genet A; 2021 Aug; 185(8):2572-2575. PubMed ID: 33973349
[TBL] [Abstract][Full Text] [Related]
4. 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]
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. Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva.
Ratbi I; Bocciardi R; Regragui A; Ravazzolo R; Sefiani A
Clin Rheumatol; 2010 Jan; 29(1):119-21. PubMed ID: 19795179
[TBL] [Abstract][Full Text] [Related]
7. Fibrodysplasia ossificans progressiva: middle-age onset of heterotopic ossification from a unique missense mutation (c.974G>C, p.G325A) in ACVR1.
Whyte MP; Wenkert D; Demertzis JL; DiCarlo EF; Westenberg E; Mumm S
J Bone Miner Res; 2012 Mar; 27(3):729-37. PubMed ID: 22131272
[TBL] [Abstract][Full Text] [Related]
8. An ACVR1
Kaplan FS; Groppe JC; Xu M; Towler OW; Grunvald E; Kalunian K; Kallish S; Al Mukaddam M; Pignolo RJ; Shore EM
Am J Med Genet A; 2022 Mar; 188(3):806-817. PubMed ID: 34854557
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. The congenital great toe malformation of fibrodysplasia ossificans progressiva? - A close call.
Towler OW; Shore EM; Xu M; Bamford A; Anderson I; Pignolo RJ; Kaplan FS
Eur J Med Genet; 2017 Jul; 60(7):399-402. PubMed ID: 28473268
[TBL] [Abstract][Full Text] [Related]
11. BMP signaling and skeletal development in fibrodysplasia ossificans progressiva (FOP).
Towler OW; Shore EM
Dev Dyn; 2022 Jan; 251(1):164-177. PubMed ID: 34133058
[TBL] [Abstract][Full Text] [Related]
12. Palovarotene Inhibits Heterotopic Ossification and Maintains Limb Mobility and Growth in Mice With the Human ACVR1(R206H) Fibrodysplasia Ossificans Progressiva (FOP) Mutation.
Chakkalakal SA; Uchibe K; Convente MR; Zhang D; Economides AN; Kaplan FS; Pacifici M; Iwamoto M; Shore EM
J Bone Miner Res; 2016 Sep; 31(9):1666-75. PubMed ID: 26896819
[TBL] [Abstract][Full Text] [Related]
13. Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva (ACVR1 c.772G>A; R258G): A report of two patients.
Kaplan FS; Kobori JA; Orellana C; Calvo I; Rosello M; Martinez F; Lopez B; Xu M; Pignolo RJ; Shore EM; Groppe JC
Am J Med Genet A; 2015 Oct; 167A(10):2265-71. PubMed ID: 26097044
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patients.
Carvalho DR; Navarro MM; Martins BJ; Coelho KE; Mello WD; Takata RI; Speck-Martins CE
Clin Genet; 2010 Feb; 77(2):171-6. PubMed ID: 19796185
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Fibrodysplasia ossificans progressiva: clinical and genetic aspects.
Pignolo RJ; Shore EM; Kaplan FS
Orphanet J Rare Dis; 2011 Dec; 6():80. PubMed ID: 22133093
[TBL] [Abstract][Full Text] [Related]
18. Identification of the Identical Human Mutation in
Casal ML; Engiles JB; Zakošek Pipan M; Berkowitz A; Porat-Mosenco Y; Mai W; Wurzburg K; Xu MQ; Allen R; ODonnell PA; Henthorn PS; Thompson K; Shore EM
Vet Pathol; 2019 Jul; 56(4):614-618. PubMed ID: 31007133
[TBL] [Abstract][Full Text] [Related]
19. A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia ossificans progressiva variant reported to date.
Gregson CL; Hollingworth P; Williams M; Petrie KA; Bullock AN; Brown MA; Tobias JH; Triffitt JT
Bone; 2011 Mar; 48(3):654-8. PubMed ID: 21044902
[TBL] [Abstract][Full Text] [Related]
20. Classical and atypical Fibrodysplasia Ossificans Progressiva in India.
Madhuri V; Santhanam M; Sugumar LK; Rajagopal K; Chilbule SK
Ann Hum Genet; 2015 Jul; 79(4):245-52. PubMed ID: 26058333
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
