Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections - Wikidata - awgldk - TriplyDB

Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections

Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections

http://www.wikidata.org/entity/Q34381768

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Myh11(R247C/R247C) mutations increase thoracic aorta vulnerability to intramural damage despite a general biomechanical adaptivity.α-Smooth Muscle Actin and ACTA2 Gene Expressions in Vasculopathies Rare Copy Number Variants Identified Suggest the Regulating Pathways in Hypertension-Related Left Ventricular Hypertrophy The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation TGFB1 genetic polymorphisms and coronary heart disease risk: a meta-analysis Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus.Polymorphisms in the human tropoelastin gene modify in vitro self-assembly and mechanical properties of elastin-like polypeptides.Rare de novo copy number variants in patients with congenital pulmonary atresia.TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections.δ ENaC: a novel divergent amiloride-inhibitable sodium channel MAT2A mutations predispose individuals to thoracic aortic aneurysms Role of mechanotransduction in vascular biology: focus on thoracic aortic aneurysms and dissections.Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.Quantitative model of R-loop forming structures reveals a novel level of RNA-DNA interactome complexity.Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population Recurrent Rare Genomic Copy Number Variants and Bicuspid Aortic Valve Are Enriched in Early Onset Thoracic Aortic Aneurysms and Dissections Copy number variation in patients with cervical artery dissection.BIOFILTER AS A FUNCTIONAL ANNOTATION PIPELINE FOR COMMON AND RARE COPY NUMBER BURDEN Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome.Next steps in cardiovascular disease genomic research--sequencing, epigenetics, and transcriptomics Graded effects of unregulated smooth muscle myosin on intestinal architecture, intestinal motility and vascular function in zebrafish Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections.Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome.Copy number variation analysis in 98 individuals with PHACE syndrome.The genetic architecture of non-syndromic thoracic aortic aneurysm.Advances in molecular genetics for pulmonary atresia.Genetic Imbalance in Patients with Cervical Artery Dissection Altered Smooth Muscle Cell Force Generation as a Driver of Thoracic Aortic Aneurysms and Dissections.Aetiology and management of hereditary aortopathy.Therapeutics Targeting Drivers of Thoracic Aortic Aneurysms and Acute Aortic Dissections: Insights from Predisposing Genes and Mouse Models.The utility of copy number variation (CNV) in studies of hypertension-related left ventricular hypertrophy (LVH): rationale, potential and challenges Effect of melittin on mice stomach.Basic fibroblast growth factor gene transfection in repair of internal carotid artery aneurysm wall.Next generation sequencing applications for cardiovascular disease.Genome-wide analysis yields new loci associating with aortic valve stenosis.NLRP3 (Nucleotide Oligomerization Domain-Like Receptor Family, Pyrin Domain Containing 3)-Caspase-1 Inflammasome Degrades Contractile Proteins: Implications for Aortic Biomechanical Dysfunction and Aneurysm and Dissection Formation.Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry.Current evidence and insights about genetics in thoracic aorta disease.Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events.

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Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections

http://www.wikidata.org/entity/Q34381768

description

2010 nî lūn-bûn

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2010 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

Rare copy number variants disr ...... rtic aneurysms and dissections

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Rare copy number variants disr ...... rtic aneurysms and dissections

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Rare copy number variants disr ...... rtic aneurysms and dissections

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Rare copy number variants disr ...... rtic aneurysms and dissections

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Rare copy number variants disr ...... rtic aneurysms and dissections

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Rare copy number variants disr ...... rtic aneurysms and dissections

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prefLabel

Rare copy number variants disr ...... rtic aneurysms and dissections

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Rare copy number variants disr ...... rtic aneurysms and dissections

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Rare copy number variants disr ...... rtic aneurysms and dissections

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J.AJHG.2010.09.015

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American Journal of Human Genetics

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Rare copy number variants disr ...... rtic aneurysms and dissections

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Anthony L Estrera

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Dianna M Milewicz

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Dong-Chuan Guo

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Ellen S Regalado

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Hazim J Safi

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Hossein Golabbakhsh

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Joseph S Coselli

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Ludivine Russell

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Molly S Bray

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Ralph J Johnson

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P2860

Modulation of integrin signal transduction by ILKAP, a protein phosphatase 2C associating with the integrin-linked kinase, ILK1.

Molecular cloning and characterization of EndoGlyx-1, an EMILIN-like multisubunit glycoprotein of vascular endothelium

Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus

Proper coronary vascular development and heart morphogenesis depend on interaction of GATA-4 with FOG cofactors

Strong association of de novo copy number mutations with autism

PLINK: a tool set for whole-genome association and population-based linkage analyses

BMPER, a novel endothelial cell precursor-derived protein, antagonizes bone morphogenetic protein signaling and endothelial cell differentiation

Molecular interactions of biglycan and decorin with elastic fiber components: biglycan forms a ternary complex with tropoelastin and microfibril-associated glycoprotein 1

Negative regulation of transforming growth factor-beta (TGF-beta) signaling by WW domain-containing protein 1 (WWP1)

The thrombospondin receptor CD47 (IAP) modulates and associates with alpha2 beta1 integrin in vascular smooth muscle cells

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10.1016/J.AJHG.2010.09.015

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John W. Belmont

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2010-11-18T00:00:00Z

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