Actin mutations in dilated cardiomyopathy, a heritable form of heart failure
about
Cardiomyopathy classification: ongoing debate in the genomics eraGenetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathyCalsarcins, a novel family of sarcomeric calcineurin-binding proteinsNemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteinsA cardiac myosin light chain kinase regulates sarcomere assembly in the vertebrate heart.Alpha-cardiac actin mutations produce atrial septal defectsFunctional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathyThe locus of a novel gene responsible for arrhythmogenic right-ventricular dysplasia characterized by early onset and high penetrance maps to chromosome 10p12-p14.A new locus for autosomal dominant dilated cardiomyopathy identified on chromosome 6q12-q16Many roads lead to a broken heart: the genetics of dilated cardiomyopathy.Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathyNRSF regulates the fetal cardiac gene program and maintains normal cardiac structure and functionABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gatingDisruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutationsA method for rapidly screening functionality of actin mutants and tagged actinsGenetics of Human and Canine Dilated CardiomyopathyA Helix Replacement Mechanism Directs Metavinculin FunctionsVertebrate isoforms of actin capping protein beta have distinct functions In vivoMutational analysis of the beta- and delta-sarcoglycan genes in a large number of patients with familial and sporadic dilated cardiomyopathyA mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26)Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathySodium channel mutations and susceptibility to heart failure and atrial fibrillationThin filament mutations: developing an integrative approach to a complex disorderp57Kip2 expression is enhanced during mid-cardiac murine development and is restricted to trabecular myocardiumAblation of the cardiac-specific gene leucine-rich repeat containing 10 (Lrrc10) results in dilated cardiomyopathyDisruption of striated preferentially expressed gene locus leads to dilated cardiomyopathy in miceCellular disorganization and extensive apoptosis in the developing heart of mice that lack cardiac muscle alpha-actin: apparent cause of perinatal deathGene dosage affects the cardiac and brain phenotype in nonmuscle myosin II-B-depleted miceCharacterization of a cardiac-specific enhancer, which directs {alpha}-cardiac actin gene transcription in the mouse adult heartGenetic epidemiology of titin-truncating variants in the etiology of dilated cardiomyopathy.Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits.Imaging phenotype vs genotype in nonhypertrophic heritable cardiomyopathies: dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathyIdentification of Nd1, a novel murine kelch family protein, involved in stabilization of actin filaments.Array lessons from the heart: focus on the genome and transcriptome of cardiomyopathies.Progression from hypertrophic to dilated cardiomyopathy in mice that express a mutant myosin transgene.Inherited long QT syndromes: a paradigm for understanding arrhythmogenesis.Canine candidate genes for dilated cardiomyopathy: annotation of and polymorphic markers for 14 genes.Phospho-Site-Specific Antibody Microarray to Study the State of Protein Phosphorylation in the Retina.Genetic causes of human heart failure.
P2860
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P2860
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure
description
1998 nî lūn-bûn
@nan
1998 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure
@ast
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure
@en
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure
@en-gb
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure
@nl
type
label
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure
@ast
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure
@en
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure
@en-gb
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure
@nl
prefLabel
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure
@ast
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure
@en
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure
@en-gb
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure
@nl
P2093
P921
P1433
P1476
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure
@en
P2093
M T Keating
S N Thibodeau
V V Michels
P356
10.1126/SCIENCE.280.5364.750
P407
P577
1998-05-01T00:00:00Z