Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy
about
Cardiomyopathy classification: ongoing debate in the genomics eraAlpha-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 cardiomyopathyHuman actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitroA method for rapidly screening functionality of actin mutants and tagged actinsUnderstanding cardiomyopathy phenotypes based on the functional impact of mutations in the myosin motorClinical and Mechanistic Insights Into the Genetics of CardiomyopathyMolecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin CGenotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethoninMutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humansThin filament mutations: developing an integrative approach to a complex disorderGenetic epidemiology of titin-truncating variants in the etiology of dilated cardiomyopathy.Microarray gene expression profiles in dilated and hypertrophic cardiomyopathic end-stage heart failure.Array lessons from the heart: focus on the genome and transcriptome of cardiomyopathies.A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias.Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).Hypertrophic cardiomyopathy: from genetics to treatmentMolecular genetics and pathogenesis of hypertrophic cardiomyopathy.Differential methylation of CpG sites in two isoforms of myosin binding protein C, an important hypertrophic cardiomyopathy gene.Genetics of human cardiovascular diseaseSubdomain location of mutations in cardiac actin correlate with type of functional change.Mice lacking skeletal muscle actin show reduced muscle strength and growth deficits and die during the neonatal periodModifier genes for hypertrophic cardiomyopathyIdentifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal historyMolecular mechanisms of inherited cardiomyopathies.Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).Altered interactions between cardiac myosin binding protein-C and α-cardiac actin variants associated with cardiomyopathiesHypertrophic cardiomyopathy: from gene defect to clinical disease.Molecular mechanism of the E99K mutation in cardiac actin (ACTC Gene) that causes apical hypertrophy in man and mouse.Knockdown of embryonic myosin heavy chain reveals an essential role in the morphology and function of the developing heartCa2+/calmodulin-dependent kinase IIdelta causes heart failure by accumulation of p53 in dilated cardiomyopathyFamilial hypertrophic cardiomyopathy: clinical features, molecular genetics and molecular genetic testing.Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases.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 DefectsLong genes and genes with multiple splice variants are enriched in pathways linked to cancer and other multigenic diseases.E101K and M123V alpha-cardiac actin gene mutations are not associated with cardiomyopathy in Iranian population.Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology.Contemporary treatment of hypertrophic cardiomyopathyHCM-linked ∆160E cardiac troponin T mutation causes unique progressive structural and molecular ventricular remodeling in transgenic mice.Role of the sarcomeric Z-disc in the pathogenesis of cardiomyopathy.
P2860
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P2860
Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy
description
2000 nî lūn-bûn
@nan
2000 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
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2000年论文
@wuu
name
Inherited and de novo mutation ...... se hypertrophic cardiomyopathy
@ast
Inherited and de novo mutation ...... se hypertrophic cardiomyopathy
@en
Inherited and de novo mutation ...... se hypertrophic cardiomyopathy
@nl
type
label
Inherited and de novo mutation ...... se hypertrophic cardiomyopathy
@ast
Inherited and de novo mutation ...... se hypertrophic cardiomyopathy
@en
Inherited and de novo mutation ...... se hypertrophic cardiomyopathy
@nl
prefLabel
Inherited and de novo mutation ...... se hypertrophic cardiomyopathy
@ast
Inherited and de novo mutation ...... se hypertrophic cardiomyopathy
@en
Inherited and de novo mutation ...... se hypertrophic cardiomyopathy
@nl
P2093
P356
P1476
Inherited and de novo mutation ...... se hypertrophic cardiomyopathy
@en
P2093
F G Whitby
L Fananapazir
M J Ackerman
N Y Kishimoto
P304
P356
10.1006/JMCC.2000.1204
P407
P577
2000-09-01T00:00:00Z