Moyamoya disease 1
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
Cerebrovascular disease associated with ACTA2 mutations has been likened to moyamoya disease, but appears to have distinctive features.
|
22831780 |
2012 |
Moyamoya disease 1
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
Concurrent cardio- and cerebrovascular lesions have been reported in PHACE syndrome, ACTA2 mutation syndrome, and less frequently in the spontaneous occlusion of the circle of Willis (so-called moyamoya disease).
|
28814167 |
2017 |
Moyamoya disease 1
|
0.390 |
SusceptibilityMutation
|
disease |
ORPHANET |
Further combined analysis of ACTA2 and other, possibly causative, genes in larger cohorts of MMD and other vascular diseases may identify possible common disease-causing mechanisms.
|
20970362 |
2011 |
Moyamoya disease 1
|
0.390 |
Biomarker
|
disease |
BEFREE |
Further combined analysis of ACTA2 and other, possibly causative, genes in larger cohorts of MMD and other vascular diseases may identify possible common disease-causing mechanisms.
|
20970362 |
2011 |
Moyamoya disease 1
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
However, recent basic science and clinical data have demonstrated that the cerebral arteriopathy caused by mutant ACTA2 exhibits genetic loci, histopathology, neurological sequelae, and radiographic findings unique from moyamoya disease.
|
30300893 |
2018 |
Moyamoya disease 1
|
0.390 |
SusceptibilityMutation
|
disease |
ORPHANET |
Linkage analysis and association studies of individuals in 20 families with ACTA2 mutations indicate that mutation carriers can have a diversity of vascular diseases, including premature onset of coronary artery disease (CAD) and premature ischemic strokes (including Moyamoya disease [MMD]), as well as previously defined TAAD.
|
19409525 |
2009 |
Moyamoya disease 1
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
Linkage analysis and association studies of individuals in 20 families with ACTA2 mutations indicate that mutation carriers can have a diversity of vascular diseases, including premature onset of coronary artery disease (CAD) and premature ischemic strokes (including Moyamoya disease [MMD]), as well as previously defined TAAD.
|
19409525 |
2009 |
Moyamoya disease 1
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ACTA2 are the most common genetic cause of thoracic aortic aneurysm, and are also the cause of other disorders, including Moyamoya disease, coronary artery disease and stroke as well as Multisystemic Smooth Muscle Dysfunction Syndrome.
|
29202781 |
2017 |
Moyamoya disease 1
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations in human RNF213 and ACTA2 genes were identified to be responsible for MMD.
|
25956231 |
2015 |
Moyamoya disease 1
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
The authors conducted a genetic study of really interesting new gene (RING) finger protein 213 ( RNF213); actin alpha 2 ( ACTA2); BRCA1/BRCA2-containing complex subunit 3 ( BRCC3); and guanylate cyclase 1, soluble, alpha 3 ( GUCY1A3) as well as a clinical phenotype analysis in Chinese MMD patients to determine whether genetic differences are responsible for the different clinical features that appear in MMD in different ethnicities.
|
27128593 |
2017 |
Moyamoya disease 1
|
0.390 |
Biomarker
|
disease |
BEFREE |
While direct cerebrovascular bypass is technically feasible, patients with ACTA2 arteriopathy may be at increased risk for perioperative stroke compared with patients with moyamoya disease.
|
27176728 |
2016 |