Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy
about
Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defectsGenome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathyA genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathyGenetics of Human and Canine Dilated CardiomyopathyCardiac disease and arrhythmogenesis: Mechanistic insights from mouse modelsRare variant mutations identified in pediatric patients with dilated cardiomyopathyAlpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defectsThe genetics of dilated cardiomyopathy: a prioritized candidate gene study of LMNA, TNNT2, TCAP, and PLNA novel arginine to tryptophan (R144W) mutation in troponin T (cTnT) gene in an indian multigenerational family with dilated cardiomyopathy (FDCM)Linking Genes to Cardiovascular Diseases: Gene Action and Gene-Environment Interactions.Structure and function of cardiac troponin C (TNNC1): Implications for heart failure, cardiomyopathies, and troponin modulating drugsGenotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals.Multiple genetic variant association testing by collapsing and kernel methods with pedigree or population structured dataAdaptive combination of P-values for family-based association testing with sequence dataPrevalence of HCM and long QT syndrome mutations in young sudden cardiac death-related cases.Exome sequencing identifies a novel mutation in the MYH6 gene in a family with early-onset sinus node dysfunction, ventricular arrhythmias, and cardiac arrestComprehensive approach to analyzing rare genetic variantsGenotype-specific pathogenic effects in human dilated cardiomyopathy.Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy.Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy.Late onset sporadic dilated cardiomyopathy caused by a cardiac troponin T mutation.Identification of rare genetic variants in novel loci associated with Paget's disease of bone.SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del.Signaling and myosin-binding protein C.Association of brain-type natriuretic protein and cardiac troponin I with incipient cardiovascular disease in chimpanzees (Pan troglodytes)Update 2011: clinical and genetic issues in familial dilated cardiomyopathy.Decreased levels of BAG3 in a family with a rare variant and in idiopathic dilated cardiomyopathyClinical and genetic issues in dilated cardiomyopathy: a review for genetics professionalsCommon variant rs7597774 in ADD2 is associated with dilated cardiomyopathy in Chinese Han populationFunctional characterization of TNNC1 rare variants identified in dilated cardiomyopathy.Assessment of LMNA copy number variation in 58 probands with dilated cardiomyopathyEvaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways.Cardiomyopathy-Related Mutations in Cardiac Troponin C, L29Q and G159D, Have Divergent Effects on Rat Cardiac Myofiber Contractile Dynamics.Dissociation of structural and functional phenotypes in cardiac myosin-binding protein C conditional knockout mice.Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy.Rescue of neonatal cardiac dysfunction in mice by administration of cardiac progenitor cells in utero.Targeted next-generation sequencing of candidate genes reveals novel mutations in patients with dilated cardiomyopathyTesting genetic association with rare variants in admixed populations.
P2860
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P2860
Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy
description
2010 nî lūn-bûn
@nan
2010 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի ապրիլին 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
Coding sequence rare variants ...... opathic dilated cardiomyopathy
@ast
Coding sequence rare variants ...... opathic dilated cardiomyopathy
@en
Coding sequence rare variants ...... opathic dilated cardiomyopathy
@nl
type
label
Coding sequence rare variants ...... opathic dilated cardiomyopathy
@ast
Coding sequence rare variants ...... opathic dilated cardiomyopathy
@en
Coding sequence rare variants ...... opathic dilated cardiomyopathy
@nl
prefLabel
Coding sequence rare variants ...... opathic dilated cardiomyopathy
@ast
Coding sequence rare variants ...... opathic dilated cardiomyopathy
@en
Coding sequence rare variants ...... opathic dilated cardiomyopathy
@nl
P2093
P2860
P3181
P1476
Coding sequence rare variants ...... opathic dilated cardiomyopathy
@en
P2093
Ana Morales
Duanxiang Li
Jill D Siegfried
Jorge Gonzalez-Quintana
Nadine Norton
Ray E Hershberger
P2860
P304
P3181
P356
10.1161/CIRCGENETICS.109.912345
P407
P577
2010-04-01T00:00:00Z