Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations
about
Understanding cardiomyopathy phenotypes based on the functional impact of mutations in the myosin motorA public resource facilitating clinical use of genomesMolecular mechanisms of cardiomyopathy phenotypes associated with myosin light chain mutationsSystematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathyThe effect of myosin RLC phosphorylation in normal and cardiomyopathic mouse heartsDiagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relativesDiastolic dysfunction in familial hypertrophic cardiomyopathy transgenic model miceIn the thick of it: HCM-causing mutations in myosin binding proteins of the thick filamentAcceleration of stretch activation in murine myocardium due to phosphorylation of myosin regulatory light chainProteomic analysis of differential protein expression in atherosclerosis.Familial hypertrophic cardiomyopathy can be characterized by a specific pattern of orientation fluctuations of actin molecules .Cross-bridge kinetics in myofibrils containing familial hypertrophic cardiomyopathy R58Q mutation in the regulatory light chain of myosinHypertrophic cardiomyopathy associated Lys104Glu mutation in the myosin regulatory light chain causes diastolic disturbance in miceMechanical defects of muscle fibers with myosin light chain mutants that cause cardiomyopathyCardiomyopathy-linked myosin regulatory light chain mutations disrupt myosin strain-dependent biochemistry.Disease variants in genomes of 44 centenarians.Effect of a myosin regulatory light chain mutation K104E on actin-myosin interactions.Myosin binding protein C: structural abnormalities in familial hypertrophic cardiomyopathy.Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.A Novel Method of Determining the Functional Effects of a Minor Genetic Modification of a Protein.Myosin regulatory light chain phosphorylation enhances cardiac β-myosin in vitro motility under load.Malignant familial hypertrophic cardiomyopathy D166V mutation in the ventricular myosin regulatory light chain causes profound effects in skinned and intact papillary muscle fibers from transgenic mice.Regulatory light chain mutations associated with cardiomyopathy affect myosin mechanics and kineticsBioinformatics assessment of beta-myosin mutations reveals myosin's high sensitivity to mutationsA point mutation in the regulatory light chain reduces the step size of skeletal muscle myosin.Thick and thin filament gene mutations in striated muscle diseases.Gene expression patterns in transgenic mouse models of hypertrophic cardiomyopathy caused by mutations in myosin regulatory light chain.Heavy and light roles: myosin in the morphogenesis of the heart.Recent advances in the epidemiology, pathogenesis and prognosis of acute heart failure and cardiomyopathy in Africa.Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency.Broad-based molecular autopsy: a potential tool to investigate the involvement of subtle cardiac conditions in sudden unexpected death in infancy and early childhood.Pseudophosphorylation of cardiac myosin regulatory light chain: a promising new tool for treatment of cardiomyopathy.Kinetics of a single cross-bridge in familial hypertrophic cardiomyopathy heart muscle measured by reverse Kretschmann fluorescence.Single molecule kinetics in the familial hypertrophic cardiomyopathy D166V mutant mouse heart.Hypertrophic cardiomyopathy: from mutation to functional analysis of defective proteinA novel Myosin essential light chain mutation causes hypertrophic cardiomyopathy with late onset and low expressivityMolecular and Functional Effects of a Splice Site Mutation in the MYL2 Gene Associated with Cardioskeletal Myopathy and Early Cardiac Death in Infants.Familial hypertrophic cardiomyopathy-linked alterations in Ca2+ binding of human cardiac myosin regulatory light chain affect cardiac muscle contraction.Single molecule detection approach to muscle study: kinetics of a single cross-bridge during contraction of muscle.Cardiac contractility, motor function, and cross-bridge kinetics in N47K-RLC mutant mice.
P2860
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P2860
Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations
description
2001 nî lūn-bûn
@nan
2001 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Myosin light chain mutations i ...... and South African populations
@ast
Myosin light chain mutations i ...... and South African populations
@en
Myosin light chain mutations i ...... and South African populations
@nl
type
label
Myosin light chain mutations i ...... and South African populations
@ast
Myosin light chain mutations i ...... and South African populations
@en
Myosin light chain mutations i ...... and South African populations
@nl
prefLabel
Myosin light chain mutations i ...... and South African populations
@ast
Myosin light chain mutations i ...... and South African populations
@en
Myosin light chain mutations i ...... and South African populations
@nl
P2093
P3181
P356
P1476
Myosin light chain mutations i ...... and South African populations
@en
P2093
A D Børglum
J C Moolman-Smook
J Mogensen
K Kjeldsen
L A Larsen
M Christiansen
O Havndrup
P S Andersen
P3181
P356
10.1136/JMG.38.12.E43
P407
P577
2001-12-01T00:00:00Z