Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
Biomarker
|
disease |
CLINGEN |
Severe Molecular Defects Exhibited by the R179H Mutation in Human Vascular Smooth Muscle α-Actin.
|
27551047 |
2016 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
Biomarker
|
disease |
CLINGEN |
Vascular disease-causing mutation R258C in ACTA2 disrupts actin dynamics and interaction with myosin.
|
26153420 |
2015 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation.
|
22752479 |
2013 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
TGFβRIIb mutations trigger aortic aneurysm pathogenesis by altering transforming growth factor β2 signal transduction.
|
23099432 |
2012 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations.
|
22302747 |
2012 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Isolated giant ascending aortic aneurysm in a child: a novel mutation of the ACTA2 gene.
|
21733706 |
2011 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Analysis of ACTA2 in European Moyamoya disease patients.
|
20970362 |
2011 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections.
|
21248741 |
2011 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
Biomarker
|
disease |
CLINGEN |
Clinical, pathological, and genetic analysis of a Korean family with thoracic aortic aneurysms and dissections carrying a novel Asp26Tyr mutation.
|
20689142 |
2010 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.
|
20734336 |
2010 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
Biomarker
|
disease |
CLINGEN |
Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD).
|
19639654 |
2009 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.
|
19409525 |
2009 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
Biomarker
|
disease |
CLINGEN |
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.
|
19409525 |
2009 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD).
|
19639654 |
2009 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.
|
19409525 |
2009 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.
|
17994018 |
2007 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
Biomarker
|
disease |
CLINGEN |
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.
|
17994018 |
2007 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
Biomarker
|
disease |
CLINGEN |
Impaired vascular contractility and blood pressure homeostasis in the smooth muscle alpha-actin null mouse.
|
11053242 |
2000 |
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|