|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, ALK-1 mutations also lead to hereditary hemorrhagic telangiectasia (HHT), an autosomal dominant disease characterized by arteriovenous malformations (AVMs) leading to potentially life-threatening bleeding complications such as epistaxis.
|
30260738 |
2020 |
|
Congenital arteriovenous malformation
|
0.100 |
Biomarker
|
disease |
BEFREE |
Together, our findings support a unique role for Bmp10 as a non-redundant Alk1 ligand required to maintain the post-embryonic vasculature and establish zebrafish bmp10 mutants as a model for AVM-associated high-output heart failure, which is an increasingly recognized complication of severe liver involvement in HHT2.
|
31828546 |
2019 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous loss of activin receptor-like kinase 1 (Alk1) can lead to hereditary hemorrhagic telangiectasia (HHT), which is a kind of vascular disease characterized by direct connections between arteries and veins with the lacking of capillaries, and develops into arteriovenous malformations (AVMs) in later stage.
|
30687014 |
2018 |
|
Congenital arteriovenous malformation
|
0.100 |
Biomarker
|
disease |
BEFREE |
Major clinical symptoms of HHT are arteriovenous malformations ( AVM s) found in the brain, lungs, visceral organs, and mucosal surface.
|
30571376 |
2018 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The prevalence of pulmonary arteriovenous malformations (AVM) is higher in HHT type 1, whereas hepatic AVMs are more common in HHT2.
|
30251589 |
2018 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Ligand-neutralizing antibodies or inducible, endothelial-specific Alk1 deletion induce AVMs in mouse models as a result of increased PI3K (phosphatidylinositol 3-kinase)/AKT (protein kinase B) signaling.
|
29976569 |
2018 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Characterization of pulmonary arteriovenous malformations in ACVRL1 versus ENG mutation carriers in hereditary hemorrhagic telangiectasia.
|
29048420 |
2018 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Patients with HHT Type 1 (HHT1) had a significantly higher brain AVM prevalence (13.4%, 95% CI 9.5%-17.4%) compared with those with HHT Type 2 (HHT2) (2.4%, 95% CI 1.0%-3.8%) (p < 0.0001).
|
27767404 |
2017 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Familial occurrence of brain arteriovenous malformation: a novel ACVRL1 mutation detected by whole exome sequencing.
|
27611203 |
2017 |
|
Congenital arteriovenous malformation
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Reduced AlK-1 activity is associated with arteriovenous malformations.
|
28213819 |
2017 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Association of ACVRL1 Genetic Polymorphisms with Arteriovenous Malformations: A Case-Control Study and Meta-Analysis.
|
28927913 |
2017 |
|
Congenital arteriovenous malformation
|
0.100 |
Biomarker
|
disease |
BEFREE |
Methods An adult activin receptor-like kinase 1 (Alk1)-inducible knockout (iKO) model was utilized to evaluate the effect of oral administration of sorafenib, sunitinib, erlotinib and a pazopanib analog (GW771806) on hemoglobin level, GI hemorrhages and formation of wound-induced skin AVMs.
|
28339142 |
2017 |
|
Congenital arteriovenous malformation
|
0.100 |
Biomarker
|
disease |
BEFREE |
The mouse models of HHT have led to the proposal that 3 events-heterozygosity, loss of heterozygosity, and angiogenic stimulation-are necessary for arteriovenous malformation formation.
|
26821948 |
2016 |
|
Congenital arteriovenous malformation
|
0.100 |
Biomarker
|
disease |
BEFREE |
In this review, we explore the role of ALK1-NOTCH interactions in the development of arteriovenous malformations and examine a possible role of two signalling pathways downstream of ALK1, TMEM100 and IDs, in the development of arteriovenous malformations in HHT.
|
26645978 |
2016 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
ACVRL1 c.314-35A>G was also associated with pulmonary AVM and liver VM among ENG mutation heterozygotes.
|
25847705 |
2015 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pulmonary and brain AVMs were predominantly observed in HHT1 while hepatic AVMs were detected in HHT2.
|
24196379 |
2014 |
|
Congenital arteriovenous malformation
|
0.100 |
Biomarker
|
disease |
BEFREE |
In conclusion, no evidence for differences in brain AVM characteristics was observed among HHT gene groups, although we cannot exclude clinically important differences.
|
22991266 |
2012 |
|
Congenital arteriovenous malformation
|
0.100 |
Biomarker
|
disease |
BEFREE |
HHT is an autosomal dominant disease with an estimated prevalence of at least 1/5000 which can frequently be complicated by the presence of clinically significant arteriovenous malformations in the brain, lung, gastrointestinal tract and liver.
|
19553198 |
2011 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Arteriovenous malformations (AVMs) in organs, such as the lungs, intestine, and brain, are characteristic of hereditary hemorrhagic telangiectasia (HHT), a disease caused by mutations in activin-like kinase receptor 1 (ALK1), which is an essential receptor in angiogenesis, or endoglin.
|
21765215 |
2011 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pancreatic involvement commonly is found in patients with HHT (31% in our study), mainly in patients with ALK1 mutation; pancreatic telangiectases or AVMs are only diagnosed duringthe arterial phase at multidetector CT.
|
20093519 |
2010 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genes mutated in HHT (most commonly for endoglin or activin receptor-like kinase (ALK1)) encode proteins that modulate transforming growth factor (TGF)-beta superfamily signalling in vascular endothelial cells; mutations lead to the development of fragile telangiectatic vessels and arteriovenous malformations.
|
19337313 |
2009 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This report highlights ALK1 mutations associated with a variable PAH phenotype, including pulmonary arteriovenous malformations and severe PAH presenting early in life.
|
19357124 |
2009 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The genotype-phenotype correlation was consistent with a higher frequency of pulmonary arteriovenous malformations in patients with ENG mutations than in patients with ACVRL1 mutations in our collective.
|
19508727 |
2009 |
|
Congenital arteriovenous malformation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Common polymorphisms in interleukin-1beta and activin receptor-like kinase-1 are associated with arteriovenous malformation susceptibility, and polymorphisms in interleukin-1beta, interleukin-6, tumor necrosis factor-alpha and APOE are associated with arteriovenous malformation rupture.
|
19064791 |
2009 |
|
Congenital arteriovenous malformation
|
0.100 |
Biomarker
|
disease |
BEFREE |
These results confirm that the frequency of AVMs differ between patients with HHT1 and HHT2, and that these differences can be detected on physical examination.
|
18831062 |
2008 |