Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects
about
Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defectsGenetic testing in congenital heart disease: A clinical approachGenetics of congenital heart disease: the glass half emptyOf mice and men: molecular genetics of congenital heart diseaseGetting to the heart of the matter: long non-coding RNAs in cardiac development and diseaseA rare variant in MYH6 is associated with high risk of sick sinus syndromeAn association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretationA de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigsTropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defectsExome analysis of a family with pleiotropic congenital heart disease.Master redox regulator Trx1 upregulates SMYD1 & modulates lysine methylation.Novel GATA4 mutations in patients with congenital ventricular septal defects.Genetic investigations of sudden unexpected deaths in infancy using next-generation sequencing of 100 genes associated with cardiac diseases.Genomics in cardiovascular disease.Probing human cardiovascular congenital disease using transgenic mouse models.Heavy and light roles: myosin in the morphogenesis of the heart.Family-based studies to identify genetic variants that cause congenital heart defects.Heart failure in congenital heart disease: the role of genes and hemodynamics.The sarcomeric M-region: a molecular command center for diverse cellular processes.Fifteen Genetic Loci Associated With the Electrocardiographic P Wave.Impact of MYH6 variants in hypoplastic left heart syndrome.Advances in molecular genetics for pulmonary atresia.Congenital heart disease: the crossroads of genetics, epigenetics and environment.Integrated Transcriptome Map Highlights Structural and Functional Aspects of the Normal Human HeartParental occupational exposures to endocrine disruptors and the risk of simple isolated congenital heart defects.Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutations.Formation, contraction, and mechanotransduction of myofribrils in cardiac development: clues from genetics.Genomic Insights into Cardiomyopathies: A Comparative Cross-Species Review.An 18.3-Mb Duplication on Chromosome 14q With Multiple Cardiac Anomalies and Clubfoot Was Identified by Microarray Analysis.A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta.Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus.High-resolution analysis of copy number variants in adults with simple-to-moderate congenital heart disease.Some Isolated Cardiac Malformations Can Be Related to Laterality Defects.Common and Rare Coding Genetic Variation Underlying the Electrocardiographic PR IntervalNanocomposite scaffolds for myogenesis revisited: Functionalization with carbon nanomaterials and spectroscopic analysis
P2860
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P2860
Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects
description
2010 nî lūn-bûn
@nan
2010 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Alpha-cardiac myosin heavy cha ...... with congenital heart defects
@ast
Alpha-cardiac myosin heavy cha ...... with congenital heart defects
@en
Alpha-cardiac myosin heavy cha ...... with congenital heart defects
@nl
type
label
Alpha-cardiac myosin heavy cha ...... with congenital heart defects
@ast
Alpha-cardiac myosin heavy cha ...... with congenital heart defects
@en
Alpha-cardiac myosin heavy cha ...... with congenital heart defects
@nl
prefLabel
Alpha-cardiac myosin heavy cha ...... with congenital heart defects
@ast
Alpha-cardiac myosin heavy cha ...... with congenital heart defects
@en
Alpha-cardiac myosin heavy cha ...... with congenital heart defects
@nl
P2093
P2860
P50
P356
P1476
Alpha-cardiac myosin heavy cha ...... with congenital heart defects
@en
P2093
Christopher Thornborough
Diane Fatkin
Frances Bu'Lock
J David Brook
Jacqueline Eason
Michael P Feneley
Tushar K Ghosh
P2860
P304
P356
10.1093/HMG/DDQ315
P407
P577
2010-07-23T00:00:00Z