Moyamoya Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
ACTA2 mutations are recently described genetically defined abnormalities of blood vessels in various organs of the body with specific abnormalities in cerebral vessels in the form of straightening of all cerebral arteries ("twig-like" pattern), stenosis/occlusions, proximal dilatation, and absent "moyamoya" type of collaterals.
|
29591721 |
2018 |
Moyamoya Disease
|
0.600 |
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
|
0.600 |
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
|
0.600 |
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
|
0.600 |
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
|
0.600 |
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 |
Moyamoya Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations in human RNF213 and ACTA2 genes were identified to be responsible for MMD.
|
25956231 |
2015 |
Moyamoya Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the smooth muscle-specific isoform of α-actin (ACTA2) cause vascular smooth muscle dysfunction leading to aortic aneurysm and moyamoya syndrome.
|
22752479 |
2013 |
Moyamoya Disease
|
0.600 |
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
|
0.600 |
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
|
0.600 |
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
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Investigations included neuroimaging, cardiologic and ophthalmologic evaluation, hormonal testing, hemoglobin electrophoresis, chromosomal karyotyping, muscle biopsy for morphology, immunohistochemistry and enzyme assays, mtDNA mutation screening, and haplotype analysis of 2 loci previously linked to moyamoya, on chromosomes 10 (ACTA2) and 17.
|
20644152 |
2010 |
Moyamoya Disease
|
0.600 |
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
|
0.600 |
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
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|