|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
De novo 617G-A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva.
|
17077940 |
2006 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Protein modeling predicts destabilization of the GS domain, consistent with constitutive activation of ACVR1 as the underlying cause of the ectopic chondrogenesis, osteogenesis and joint fusions seen in FOP.
|
16642017 |
2006 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Protein modeling predicts destabilization of the GS domain, consistent with constitutive activation of ACVR1 as the underlying cause of the ectopic chondrogenesis, osteogenesis and joint fusions seen in FOP.
|
16642017 |
2006 |
|
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 |
AlteredExpression
|
disease |
BEFREE |
Protein modeling predicts that substitution with histidine, and only histidine, creates a pH-sensitive switch within the activation domain of the receptor that leads to ligand-independent activation of ACVR1 in fibrodysplasia ossificans progressiva.
|
17572636 |
2007 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The discovery of the FOP gene establishes a critical milestone in understanding FOP, reveals a highly conserved druggable target in the TGF-beta/bone morphogenetic protein signaling pathway and compels therapeutic approaches for the development of small molecule signal transduction inhibitors for activin-like kinase-2.
|
17477807 |
2007 |
|
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 |
A unique mutation of ALK2, G356D, found in a patient with fibrodysplasia ossificans progressiva is a moderately activated BMP type I receptor.
|
18952055 |
2008 |
|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The identification of ACVR1 as the causative gene for FOP now allows the genetic screening of FOP patients to identify the frequency of the identified recurrent ACVR1 mutation and to investigate genetic variability that may be associated with this severely debilitating disease.
|
18830232 |
2009 |
|
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 |
Biomarker
|
disease |
BEFREE |
The identification of ACVR1 as the causative gene for FOP now allows the genetic screening of FOP patients to identify the frequency of the identified recurrent ACVR1 mutation and to investigate genetic variability that may be associated with this severely debilitating disease.
|
18830232 |
2009 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
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 |
UNIPROT |
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 |
Gene transfer of Smad7 or inhibition of type I receptors with dorsomorphin may represent strategies for blocking the activity induced by ALK2(R206H) in FOP.
|
18684712 |
2009 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
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 |
ACVR1 gene mutation in sporadic Korean patients with fibrodysplasia ossificans progressiva.
|
19543505 |
2009 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study aimed to investigate the ACVR1 gene mutation in Chinese FOP patients.
|
19300893 |
2009 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
Biomarker
|
disease |
BEFREE |
Compared with control cells FOP-ALK2-expressing cells induced increased bone formation.
|
19929436 |
2010 |
|
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 |
In lesions from individuals with fibrodysplasia ossificans progressiva (FOP), a disease in which heterotopic ossification occurs as a result of activating ALK2 mutations, or from transgenic mice expressing constitutively active ALK2, chondrocytes and osteoblasts expressed endothelial markers.
|
21102460 |
2010 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our study contributes to the understanding of the predominant FOP phenotype and genotype and suggests that variant FOP phenotypes are associated with specific mutations in ACVR1 gene.
|
19796185 |
2010 |