Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease
about
Treatment guidelines for thoracic aortic aneurysms and dissections based on the underlying causative geneThe Pathophysiology of Moyamoya Disease: An UpdateSingle Nucleotide Polymorphism in Patients with Moyamoya DiseaseMoyamoya BiomarkersEducational paper. Connective tissue disorders with vascular involvement: from gene to therapySuccesses and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissectionsUltra High-Resolution In vivo Computed Tomography Imaging of Mouse Cerebrovasculature Using a Long Circulating Blood Pool Contrast Agent.Vascular disease-causing mutation R258C in ACTA2 disrupts actin dynamics and interaction with myosinα-Smooth Muscle Actin and ACTA2 Gene Expressions in VasculopathiesGenetic susceptibility to cerebrovascular diseaseA new horizon of moyamoya disease and associated health risks explored through RNF213Moyamoya disease and syndromes: from genetics to clinical managementPopulation differences in transcript-regulator expression quantitative trait lociLoss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease.Arterial Tortuosity: An Imaging Biomarker of Childhood Stroke Pathogenesis?Recent advances in muscle researchWhole animal knockout of smooth muscle alpha-actin does not alter excisional wound healing or the fibroblast-to-myofibroblast transitionSignificant association of RNF213 p.R4810K, a moyamoya susceptibility variant, with coronary artery diseaseThe Genetics of Aortopathies in Clinical Cardiology.Frequency and significance of rare RNF213 variants in patients with adult moyamoya diseaseRecurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections.Serum miRNA signature in Moyamoya disease.Molecular analysis of RNF213 gene for moyamoya disease in the Chinese Han populationLong telomeres in blood leukocytes are associated with a high risk of ascending aortic aneurysmGenetics of ischemic stroke in young adults.New information on the genetics of stroke.Allele-specific effects of thoracic aortic aneurysm and dissection alpha-smooth muscle actin mutations on actin functionThree novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections.MAT2A mutations predispose individuals to thoracic aortic aneurysmsLoss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya.NEXN is a novel susceptibility gene for coronary artery disease in Han ChineseGene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.Coronary heart disease in moyamoya disease: are they concomitant or coincidence?A clinical approach to inherited premature coronary artery diseaseConnective tissue disorders and cardiovascular complications: the indomitable role of transforming growth factor-beta signalingRNF213 rare variants in an ethnically diverse population with Moyamoya disease.Role of mechanotransduction in vascular biology: focus on thoracic aortic aneurysms and dissections.Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.Aorta Measurements are Heritable and Influenced by Bicuspid Aortic Valve.A roadmap to investigate the genetic basis of bicuspid aortic valve and its complications: insights from the International BAVCon (Bicuspid Aortic Valve Consortium).
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P2860
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease
description
2009 nî lūn-bûn
@nan
2009 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
name
Mutations in smooth muscle alp ...... g with thoracic aortic disease
@ast
Mutations in smooth muscle alp ...... g with thoracic aortic disease
@en
Mutations in smooth muscle alp ...... g with thoracic aortic disease
@nl
type
label
Mutations in smooth muscle alp ...... g with thoracic aortic disease
@ast
Mutations in smooth muscle alp ...... g with thoracic aortic disease
@en
Mutations in smooth muscle alp ...... g with thoracic aortic disease
@nl
prefLabel
Mutations in smooth muscle alp ...... g with thoracic aortic disease
@ast
Mutations in smooth muscle alp ...... g with thoracic aortic disease
@en
Mutations in smooth muscle alp ...... g with thoracic aortic disease
@nl
P2093
P2860
P3181
P1476
Mutations in smooth muscle alp ...... g with thoracic aortic disease
@en
P2093
Ali J Marian
Anthony L Estrera
Christina L Papke
David A Wheeler
Dianna M Milewicz
Dong H Kim
Dong-Chuan Guo
Donna M Muzny
Elizabeth Sparks
P2860
P304
P3181
P356
10.1016/J.AJHG.2009.04.007
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P577
2009-05-01T00:00:00Z