Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.
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Mutations in myosin light chain kinase cause familial aortic dissectionsTreatment guidelines for thoracic aortic aneurysms and dissections based on the underlying causative geneAbdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic diseaseAortic Aneurysm: Etiopathogenesis and Clinicopathologic CorrelationsMicromanaging abdominal aortic aneurysmsEducational 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 dissectionsThe role of mechanotransduction on vascular smooth muscle myocytes' [corrected] cytoskeleton and contractile functionMyh11(R247C/R247C) mutations increase thoracic aorta vulnerability to intramural damage despite a general biomechanical adaptivity.Vascular disease-causing mutation R258C in ACTA2 disrupts actin dynamics and interaction with myosinα-Smooth Muscle Actin and ACTA2 Gene Expressions in VasculopathiesBicuspid Aortic Valve: a Review with Recommendations for Genetic CounselingLoss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humansMechanisms of hepatic fibrogenesisNear-atomic resolution for one state of F-actin.Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus.Smooth muscle phenotypic modulation is an early event in aortic aneurysmsGenome screen to detect linkage to common susceptibility genes for intracranial and aortic aneurysmsPharmacologically Improved Contractility Protects Against Aortic Dissection in Mice With Disrupted Transforming Growth Factor-β Signaling Despite Compromised Extracellular Matrix Properties.Dissecting Aortic Aneurysm 55 Years after Diagnosis of Iris Flocculi.Integrative modeling of small artery structure and function uncovers critical parameters for diameter regulationWhole genome expression analysis within the angiotensin II-apolipoprotein E deficient mouse model of abdominal aortic aneurysm.New Alzheimer amyloid beta responsive genes identified in human neuroblastoma cells by hierarchical clustering.Overexpression of smooth muscle myosin heavy chain leads to activation of the unfolded protein response and autophagic turnover of thick filament-associated proteins in vascular smooth muscle cellsSelection of reference genes for quantitative real time PCR (qPCR) assays in tissue from human ascending aorta.Embryonic origins of human vascular smooth muscle cells: implications for in vitro modeling and clinical applicationFibulin-4 deficiency results in ascending aortic aneurysms: a potential link between abnormal smooth muscle cell phenotype and aneurysm progressionA balanced translocation truncates Neurotrimin in a family with intracranial and thoracic aortic aneurysmRationale and design of the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC).The Genetics of Aortopathies in Clinical Cardiology.Bicuspid aortic valve syndrome: a multidisciplinary approach for a complex entityCanadian Cardiovascular Society 2009 Consensus Conference on the management of adults with congenital heart disease: outflow tract obstruction, coarctation of the aorta, tetralogy of Fallot, Ebstein anomaly and Marfan's syndromeCandidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor.Immunoelectron microscopic study of podoplanin localization in mouse salivary gland myoepitheliumRecurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections.A potential yeast actin allosteric conduit dependent on hydrophobic core residues val-76 and trp-79.Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms.Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on research in Marfan syndrome and related disorders.Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification.
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P2860
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.
description
2007 nî lūn-bûn
@nan
2007 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Mutations in smooth muscle alp ...... tic aneurysms and dissections.
@ast
Mutations in smooth muscle alp ...... tic aneurysms and dissections.
@en
Mutations in smooth muscle alpha-actin
@nl
type
label
Mutations in smooth muscle alp ...... tic aneurysms and dissections.
@ast
Mutations in smooth muscle alp ...... tic aneurysms and dissections.
@en
Mutations in smooth muscle alpha-actin
@nl
prefLabel
Mutations in smooth muscle alp ...... tic aneurysms and dissections.
@ast
Mutations in smooth muscle alp ...... tic aneurysms and dissections.
@en
Mutations in smooth muscle alpha-actin
@nl
P2093
P2860
P50
P356
P1433
P1476
Mutations in smooth muscle alp ...... rtic aneurysms and dissections
@en
P2093
Anthony L Estrera
Christina L Papke
Dianna M Milewicz
Dianne Abuelo
Dong-Chuan Guo
Elizabeth Sparks
Hariyadarshi Pannu
Hazim J Safi
Lesley Ades
P2860
P2888
P304
P356
10.1038/NG.2007.6
P407
P577
2007-11-11T00:00:00Z