|
Diffuse Intrinsic Pontine Glioma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Whole-genome sequencing studies have recently identified a quarter of cases of the rare childhood brainstem tumor diffuse intrinsic pontine glioma to harbor somatic mutations in ACVR1.
|
25136070 |
2014 |
|
Childhood Brain Stem Neoplasm
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Whole-genome sequencing studies have recently identified a quarter of cases of the rare childhood brainstem tumor diffuse intrinsic pontine glioma to harbor somatic mutations in ACVR1.
|
25136070 |
2014 |
|
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 |
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 |
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 |
|
Neoplasms
|
0.090 |
GeneticVariation
|
group |
BEFREE |
While the ACVR1 mutation is causal for FOP, its role in DIPG tumor biology remains under active investigation.
|
28780023 |
2018 |
|
Diffuse Intrinsic Pontine Glioma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
While the ACVR1 mutation is causal for FOP, its role in DIPG tumor biology remains under active investigation.
|
28780023 |
2018 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
While the ACVR1 mutation is causal for FOP, its role in DIPG tumor biology remains under active investigation.
|
28780023 |
2018 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
Biomarker
|
disease |
BEFREE |
While effective treatment of FOP will likely be based on interventions that modulate overactive ACVR1/ALK2 signaling, or that specifically block postnatal HEO, current management is focused on early diagnosis, assiduous avoidance of injury or iatrogenic harm, symptomatic amelioration of painful flare-ups, and optimization of residual function.
|
23858627 |
2013 |
|
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 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
Biomarker
|
disease |
BEFREE |
We studied 72 patients with FOP in China and analyzed their phenotypes and genotypes comprising the world's largest ethnically homogeneous population of FOP patients.
|
24051199 |
2013 |
|
Lethal skeletal dysplasia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We report the clinical and molecular characterization of a lethal skeletal dysplasia of the short-rib group caused by mutation of the mouse Fop gene.
|
29982567 |
2018 |
|
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 |
|
Malignant neoplasm of breast
|
0.330 |
AlteredExpression
|
disease |
BEFREE |
We performed a systematic expression survey of BMPs and their receptors in breast cancer. mRNA expression was studied of seven BMP ligands (BMP2-BMP8) and six receptors (ACVR1, BMPR1A, BMPR1B, BMPR2, ACVR2A, and ACVR2B) that specifically mediate BMP signals.
|
17004110 |
2007 |
|
Breast Carcinoma
|
0.330 |
AlteredExpression
|
disease |
BEFREE |
We performed a systematic expression survey of BMPs and their receptors in breast cancer. mRNA expression was studied of seven BMP ligands (BMP2-BMP8) and six receptors (ACVR1, BMPR1A, BMPR1B, BMPR2, ACVR2A, and ACVR2B) that specifically mediate BMP signals.
|
17004110 |
2007 |
|
Colorectal Carcinoma
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
We observed that compared with A carriers (AA + AG), the GG genotype of rs12997:ACVR1 is associated with a significantly higher risk of CRC (OR = 1.52, 95% confidence interval (95% CI) = 1.04-2.21, P = 0.031), particularly in nonsmokers with a higher OR of 1.63 (95% CI = 1.04-2.55, P = 0.032).
|
24375256 |
2014 |
|
Esophageal carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
We investigated the expression of activin-betaA (Act-betaA) which is a subunit of activin A, its receptor type I and IIb (ActRI, ActRIIb) and its inhibitor, inhibin-alpha (Inh-alpha), which is a subunit of inhibin A in esophageal carcinoma by reverse transcription polymerase chain reaction (RT-PCR) method.
|
12469187 |
2003 |
|
Malignant Glioma
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
We identified recurrent somatic mutations in ACVR1 exclusively in DIPGs (32%), in addition to previously reported frequent somatic mutations in histone H3 genes, TP53 and ATRX, in both DIPGs and NBS-HGGs.
|
24705251 |
2014 |
|
Malignant Glioma
|
0.310 |
Biomarker
|
disease |
CTD_human |
We identified recurrent somatic mutations in ACVR1 exclusively in DIPGs (32%), in addition to previously reported frequent somatic mutations in histone H3 genes, TP53 and ATRX, in both DIPGs and NBS-HGGs.
|
24705251 |
2014 |
|
High grade glioma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We identified recurrent somatic mutations in ACVR1 exclusively in DIPGs (32%), in addition to previously reported frequent somatic mutations in histone H3 genes, TP53 and ATRX, in both DIPGs and NBS-HGGs.
|
24705251 |
2014 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
We have determined that the formation of heterotopic bone in FOP requires activation of mutant ACVR1 by Activin A, in part by showing that prophylactic inhibition of Activin A blocks HO in a mouse model of FOP.
|
28782882 |
2017 |
|
Fibrodysplasia Ossificans Progressiva
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Dentin Dysplasia
|
0.010 |
Biomarker
|
disease |
BEFREE |
We found that loss of Acvr1 in the dental mesenchyme led to dentin dysplasia in molars and osteodentin formation in incisors.
|
30519900 |
2019 |
|
Hyperactive behavior
|
0.020 |
GeneticVariation
|
phenotype |
BEFREE |
We found that a key determinant for ALK2(R206H) hyperactivity is a functional type II receptor.
|
22174087 |
2012 |
|
Stromal Neoplasm
|
0.010 |
Biomarker
|
disease |
BEFREE |
We found that 1) STIP1 protein on the extracellular surface of tumor cells promoted the proliferation and migration/invasion of RCC tumor cells through the autocrine STIP1-ALK2-SMAD1/5 pathway; and 2) STIP1 protein secreted into the extracellular tumor stromal area, promoted the differentiation of osteoclasts through the paracrine STIP1-PrPc-ERK1/2 pathway.
|
28199984 |
2017 |