rs121912678
|
|
Fibrodysplasia Ossificans Progressiva
|
|
0.900 |
GeneticVariation
|
BEFREE |
We analyzed baseline whole body (minus skull) computed tomographic (CT) scans of 113 individuals with classic clinical features of FOP and the ACVR1 (R206H) mutation who were enrolled in a non-interventional natural history study ((NCT02322255)) for skeletal malformations, atypical morphology, intra-articular synovial osteochondromatosis, developmental arthropathy, and associated degenerative joint phenotypes.
|
31655222 |
2020 |
rs121912678
|
|
Fibrodysplasia Ossificans Progressiva
|
|
0.900 |
GeneticVariation
|
BEFREE |
All familial and sporadic cases with a classic clinical presentation of FOP carry a gain-of-function mutation (R206H; c.617 G > A) in ACVR1, a cell surface receptor that mediates bone morphogenetic protein (BMP) signaling.
|
31107558 |
2019 |
rs121912678
|
|
Fibrodysplasia Ossificans Progressiva
|
|
0.900 |
GeneticVariation
|
BEFREE |
The human disease fibrodysplasia ossificans progressiva (FOP) is a rare and highly disabling disorder of extensive heterotopic bone growth that is caused by a point mutation (R206H) in the activation domain of Alk2, a BMP (bone morphogenic protein) type 1 receptor.
|
31376533 |
2019 |
rs121912678
|
|
Fibrodysplasia Ossificans Progressiva
|
|
0.900 |
GeneticVariation
|
BEFREE |
We found that the Acvr1 R206H mutation caused increased BMP signaling in posttraumatic FOP lesions and early divergence from the normal skeletal muscle repair program with elevated and prolonged immune cell infiltration.
|
28986986 |
2018 |
rs121912678
|
|
Fibrodysplasia Ossificans Progressiva
|
|
0.900 |
GeneticVariation
|
BEFREE |
Most patients with fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder of heterotopic ossification, have the same causative mutation in ACVR1, R206H.
|
29097342 |
2018 |
rs121912678
|
|
Fibrodysplasia Ossificans Progressiva
|
|
0.900 |
GeneticVariation
|
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 |
rs121912678
|
|
Fibrodysplasia Ossificans Progressiva
|
|
0.900 |
GeneticVariation
|
BEFREE |
The large majority of cases of the autosomal dominant human disease fibrodysplasia ossificans progressiva (FOP) are caused by gain-of-function Arg206His mutations in the BMP type I receptor ACVR1 (ALK2).
|
29307777 |
2018 |
rs121912678
|
|
Fibrodysplasia Ossificans Progressiva
|
|
0.900 |
GeneticVariation
|
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 |
rs121912678
|
|
Fibrodysplasia Ossificans Progressiva
|
|
0.900 |
GeneticVariation
|
BEFREE |
These cells express the common FOP mutation, ACVR1 (R206H).
|
29170109 |
2018 |
rs121912678
|
|
Fibrodysplasia Ossificans Progressiva
|
|
0.900 |
GeneticVariation
|
BEFREE |
Activating mutations of ALK2 containing the R206 to H mutation, are present in 95% in the rare autosomal genetic disease fibrodysplasia ossificans progressiva (FOP), which leads to the development of ectopic bone formation in muscle.
|
28847510 |
2017 |
rs121912678
|
|
Fibrodysplasia Ossificans Progressiva
|
|
0.900 |
GeneticVariation
|
BEFREE |
The Fibrodysplasia Ossificans Progressiva (FOP) mutation p.R206H in ACVR1 confers an altered ligand response.
|
27713089 |
2017 |
rs121912678
|
|
Fibrodysplasia Ossificans Progressiva
|
|
0.900 |
GeneticVariation
|
BEFREE |
Our results suggest that the ACVR1 R206H mutation may not directly increase the formation of mature chondrogenic or osteogenic cells by FOP iECs.
|
27530160 |
2016 |
rs121912678
|
|
Fibrodysplasia Ossificans Progressiva
|
|
0.900 |
GeneticVariation
|
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 |
rs121912678
|
|
Fibrodysplasia Ossificans Progressiva
|
|
0.900 |
GeneticVariation
|
BEFREE |
Here we report that the drug additionally prevents spontaneous HO, using a novel conditional-on knock-in mouse line carrying the human ACVR1(R206H) mutation for classic FOP.
|
26896819 |
2016 |
rs121912678
|
|
Fibrodysplasia Ossificans Progressiva
|
|
0.900 |
GeneticVariation
|
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 |
rs121912678
|
|
Fibrodysplasia Ossificans Progressiva
|
|
0.900 |
GeneticVariation
|
BEFREE |
We generated human induced pluripotent stem cells (hiPSCs) from FOP patients with the ALK2 R206H mutation.
|
26626181 |
2015 |
rs121912678
|
|
Fibrodysplasia Ossificans Progressiva
|
|
0.900 |
GeneticVariation
|
BEFREE |
She underwent whole-exome sequencing (WES) as part of the FORGE study to identify the gene for infantile myofibromatosis; however a de novo dominant mutation in ACVR1 (NM_001105.4:c.617G>A) revised the diagnosis to FOP.
|
25899773 |
2015 |
rs121912678
|
|
Fibrodysplasia Ossificans Progressiva
|
|
0.900 |
GeneticVariation
|
BEFREE |
The most common recurrent allele c.617 G>A; p.R206H is also the most common in Indian patients with FOP.
|
26058333 |
2015 |
rs121912678
|
|
Fibrodysplasia Ossificans Progressiva
|
|
0.900 |
GeneticVariation
|
BEFREE |
However, we found that the engineered ACVR1(Q207D-c.a.) is significantly more active than the classic FOP mutation ACVR1(R206H) when overexpressed in chicken limbs and in differentiation assays of chondrogenesis, osteogenesis and myogenesis.
|
24852373 |
2014 |
rs121912678
|
|
Fibrodysplasia Ossificans Progressiva
|
|
0.900 |
GeneticVariation
|
BEFREE |
Overall, our ES cells are useful for studying the molecular mechanisms of heterotopic ossification in FOP in vitro and for developing novel inhibitors of chondrogenesis induced by mutant ALK2(R206H) associated with FOP.
|
25446088 |
2014 |
rs121912678
|
|
Fibrodysplasia Ossificans Progressiva
|
|
0.900 |
GeneticVariation
|
BEFREE |
Fibrodysplasia ossificans progressiva is characterized by extensive ossification within muscle tissues, and its molecular pathogenesis is responsible for the constitutively activating mutation (R206H) of the bone morphogenetic protein type 1 receptor, activin-like kinase 2 (ALK2).
|
24798338 |
2014 |
rs121912678
|
|
Fibrodysplasia Ossificans Progressiva
|
|
0.900 |
GeneticVariation
|
BEFREE |
Ninety-seven percent of FOP patients (70/72 cases) had the canonical c.617G>A (p.R206H) mutation, while 3% of FOP patients (2/72 cases) had variant mutations in ACVR1/ALK2.
|
24051199 |
2013 |
rs121912678
|
|
Fibrodysplasia Ossificans Progressiva
|
|
0.900 |
GeneticVariation
|
BEFREE |
A recurrent activating mutation (c.617G→A; R206H) of activin receptor-like kinase 2 (ACVR1/ALK2), a BMP type I receptor, has been shown as the main cause of FOP.
|
23861958 |
2013 |
rs121912678
|
|
Fibrodysplasia Ossificans Progressiva
|
|
0.900 |
GeneticVariation
|
BEFREE |
FOP is caused by a recurrent heterozygous activating mutation (c.617G>A; R206H) of Activin receptor type IA/Activin-like kinase-2 (ACVR1/ALK2), a bone morphogenetic protein (BMP) type I receptor that occurs in all classically affected individuals.
|
22011642 |
2012 |
rs121912678
|
|
Fibrodysplasia Ossificans Progressiva
|
|
0.900 |
GeneticVariation
|
BEFREE |
An Acvr1 R206H knock-in mouse has fibrodysplasia ossificans progressiva.
|
22508565 |
2012 |