|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fibrodysplasia ossificans progressiva (FOP) is a rare, disabling, genetic disease of progressive heterotopic endochondral ossification (HEO) enabled by missense mutations that promiscuously and provisionally activate ACVR1/ALK2, a bone morphogenetic protein (BMP) type I receptor, in all affected individuals.
|
22082359 |
2011 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ACVR1 gene are associated with Fibrodysplasia Ossificans Progressiva (FOP), a rare and extremely disabling disorder characterized by congenital malformation of the great toes and progressive heterotopic endochondral ossification in muscles and other non-skeletal tissues.
|
24047559 |
2013 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In vitro analyses of the dysregulated R206H ALK2 kinase-FKBP12 interaction associated with heterotopic ossification in FOP.
|
21525719 |
2011 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Correction to: Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva.
|
29134511 |
2018 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Targeted expression of the disease-causing type I bone morphogenetic protein (BMP) receptor, ACVR1(R206H), to FAPs recapitulates the full spectrum of HO observed in FOP patients.
|
29396429 |
2018 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
FOP-associated mutations in the BMP receptor ALK2 reduce binding of the inhibitor FKBP12 and promote leaky signaling in the absence of ligand.
|
22977237 |
2012 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we examined three Japanese patients with FOP for ACVR1 mutations.
|
17351709 |
2007 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Nearly all cases of FOP are caused by the identical mutation in the ACVR1 gene that causes a single amino acid substitution, R206H, in the bone morphogenetic protein (BMP) type I receptor ACVR1 (formerly known as ALK2).
|
22408652 |
2014 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report here on a 62-year-old man with slowly progressive FOP and a novel mutation in ACVR1.
|
18203193 |
2008 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Absence of great toe malformations, the presence of early ossification of the cervical spine facets joints, plus mild bilateral camptodactyly of the 5th fingers, together with a novel ACVR1 mutation, are consistent with the 'FOP-variant' syndrome.
|
21044902 |
2011 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
FOP has been shown to result from a point mutation (c.617G>A) in the ACVR1 gene in almost all patients reported.
|
19330033 |
2009 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This unusually high prevalence may be due to high bone turnover from chronic immobilization, or to unknown mechanistic effects of the activating FOP mutation in activin A receptor, type I/activin-like kinase-2 (ACVR1/ALK2), increasing the disease burden and morbidity in this already disabling condition.
|
29241827 |
2018 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fibrodysplasia ossificans progressiva (FOP) patients carry a missense mutation in ACVR1 [617G > A (R206H)] that leads to hyperactivation of BMP-SMAD signaling.
|
27794120 |
2016 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fibrodysplasia ossificans progressiva (FOP) is a rare hereditary disease caused by a mutation in the intracellular domain of the activin A receptor type I and is characterized by episodes (flare-ups) of progressive heterotopic endochondral ossification (HO) in the soft tissues.
|
31443758 |
2019 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A small subset of patients with FOP carry variant mutations in ACVR1 altering Gly328 to Trp, Glu or Arg.
|
29307777 |
2018 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fibrodysplasia ossificans progressiva (FOP), a congenital heterotopic ossification (HO) syndrome caused by gain-of-function mutations of bone morphogenetic protein (BMP) type I receptor ACVR1, manifests with progressive ossification of skeletal muscles, tendons, ligaments, and joints.
|
27881824 |
2016 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva.
|
19795179 |
2010 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
While the recurrent c.617G>A; p.R206H mutation was found in all cases of classic FOP and most cases of FOP-plus, novel ACVR1 mutations occur in the FOP variants and two cases of FOP-plus.
|
19085907 |
2009 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This model could be useful to elucidate molecular mechanisms leading to heterotopic ossification in FOP such as in the presence of specific ACVR1-R206H activators as Activin A.
|
28705683 |
2018 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Taken together, FKBP12 binds to and suppresses mutant ALK2 proteins associated with FOP and DIPG, except for PF197-8L.
|
29551750 |
2018 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva.
|
27565519 |
2016 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
If the diagnosis of FOP is unclear, ACVR1 mutation analysis is available at certified laboratories.
|
22131272 |
2012 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Because previous studies have shown that genetic variants of HO, such as fibrodysplasia ossificans progressiva (FOP), are caused by hyperactivating mutations of the type I bone morphogenetic protein receptor (T1-BMPR) ACVR1/ALK2, studies evaluating therapies for HO have been directed primarily toward drugs for this specific receptor.
|
28716575 |
2017 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The dual function of ALK2 is of particular interest given the heterozygous nature of FOP, as the normal interplay between such disparate behaviors could be shifted by the presence of ALK2(R206H) receptors.
|
22174087 |
2012 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We used a new directed differentiation protocol to create human induced pluripotent stem cell (hiPSC)-derived endothelial cells (iECs) from patients with fibrodysplasia ossificans progressiva (FOP), a congenital disease of heterotopic ossification caused by an activating R206H mutation in the Activin A type I receptor (ACVR1).
|
27530160 |
2016 |