Alpha-cardiac actin mutations produce atrial septal defects
about
Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defectsGenetics of congenital heart disease: the glass half emptyOf mice and men: molecular genetics of congenital heart diseaseCompound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defectsAlpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defectsHeart Failure in Pediatric Patients With Congenital Heart Disease.A de novo mutation in NKX2.5 associated with atrial septal defects, ventricular noncompaction, syncope and sudden death.A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias.Molecular genetics of congenital atrial septal defectsTropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defectsIdentification of dysfunctional modules and disease genes in congenital heart disease by a network-based approach.Genetic basis of congenital cardiovascular malformationsKnockdown of embryonic myosin heavy chain reveals an essential role in the morphology and function of the developing heartTranscriptome responses to heat stress in hypothalamus of a meat-type chickenCongenital heart defects are rarely caused by mutations in cardiac and smooth muscle actin genes.A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Midline DefectsNEXN inhibits GATA4 and leads to atrial septal defects in mice and humans.Aortic wall proteomic analysis in spontaneously hypertensive rats with a blood pressure decrease induced by 6-week load-free swimming.E101K and M123V alpha-cardiac actin gene mutations are not associated with cardiomyopathy in Iranian population.Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7.A gain-of-function ACTC1 3'UTR mutation that introduces a miR-139-5p target site may be associated with a dominant familial atrial septal defect.Cardiac troponin T is necessary for normal development in the embryonic chick heart.From molecular mechanisms of cardiac development to genetic substrate of congenital heart diseases.Endocytosis and signaling: cell logistics shape the eukaryotic cell plan.The pathogenesis of atrial and atrioventricular septal defects with special emphasis on the role of the dorsal mesenchymal protrusion.Insights into the effects of disease-causing mutations in human actins.The Heritable Basis of Congenital Heart Disease: Past, Present, and Future.Animal Models of Congenital Cardiomyopathies Associated With Mutations in Z-Line Proteins.Congenital heart disease: the crossroads of genetics, epigenetics and environment.Impacts of Early Life Stress on the Methylome and Transcriptome of Atlantic Salmon.Parental occupational exposures to endocrine disruptors and the risk of simple isolated congenital heart defects.The W-loop of alpha-cardiac actin is critical for heart function and endocardial cushion morphogenesis in zebrafish.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.Aip1p dynamics are altered by the R256H mutation in actin.Knockdown of alpha myosin heavy chain disrupts the cytoskeleton and leads to multiple defects during chick cardiogenesis.Exploring evidence of positive selection signatures in cattle breeds selected for different traits.Familial co-occurrence of congenital heart defects follows distinct patterns.Functional characterization of the human α-cardiac actin mutations Y166C and M305L involved in hypertrophic cardiomyopathy.Novel α-Actin Gene Mutation p.(Ala21Val) Causing Familial Hypertrophic Cardiomyopathy, Myocardial Noncompaction, and Transmural Crypts. Clinical-Pathologic Correlation.
P2860
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P2860
Alpha-cardiac actin mutations produce atrial septal defects
description
2008 nî lūn-bûn
@nan
2008 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Alpha-cardiac actin mutations produce atrial septal defects
@ast
Alpha-cardiac actin mutations produce atrial septal defects
@en
Alpha-cardiac actin mutations produce atrial septal defects
@en-gb
Alpha-cardiac actin mutations produce atrial septal defects
@nl
type
label
Alpha-cardiac actin mutations produce atrial septal defects
@ast
Alpha-cardiac actin mutations produce atrial septal defects
@en
Alpha-cardiac actin mutations produce atrial septal defects
@en-gb
Alpha-cardiac actin mutations produce atrial septal defects
@nl
prefLabel
Alpha-cardiac actin mutations produce atrial septal defects
@ast
Alpha-cardiac actin mutations produce atrial septal defects
@en
Alpha-cardiac actin mutations produce atrial septal defects
@en-gb
Alpha-cardiac actin mutations produce atrial septal defects
@nl
P2093
P2860
P50
P3181
P356
P1476
Alpha-cardiac actin mutations produce atrial septal defects
@en
P2093
Anders Jonzon
Carol S Bookwalter
Feifei Song
Frances Bu'Lock
Hans Matsson
Henrik Enell
Ilse Gutierrez
Jacqueline Eason
Jan Sunnegårdh
P2860
P304
P3181
P356
10.1093/HMG/DDM302
P407
P577
2007-10-18T00:00:00Z