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The physiological role of cardiac cytoskeleton and its alterations in heart failure
Cardiac muscle cells are equipped with specialized biochemical machineries for the rapid
generation of force and movement central to the work generated by the heart. During each …
generation of force and movement central to the work generated by the heart. During each …
Hypertrophic cardiomyopathy: a vicious cycle triggered by sarcomere mutations and secondary disease hits
Significance: Hypertrophic cardiomyopathy (HCM) is a cardiac genetic disease
characterized by left ventricular hypertrophy, diastolic dysfunction, and myocardial disarray …
characterized by left ventricular hypertrophy, diastolic dysfunction, and myocardial disarray …
Perturbed length-dependent activation in human hypertrophic cardiomyopathy with missense sarcomeric gene mutations
Rationale: High-myofilament Ca2+ sensitivity has been proposed as a trigger of disease
pathogenesis in familial hypertrophic cardiomyopathy (HCM) on the basis of in vitro and …
pathogenesis in familial hypertrophic cardiomyopathy (HCM) on the basis of in vitro and …
MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy
The “super-relaxed state”(SRX) of myosin represents a 'reserve'of motors in the heart.
Myosin heads in the SRX are bound to the thick filament and have a very low ATPase rate …
Myosin heads in the SRX are bound to the thick filament and have a very low ATPase rate …
Genetics of hypertrophic cardiomyopathy: advances and pitfalls in molecular diagnosis and therapy
Hypertrophic cardiomyopathy (HCM) is a primary disease of the cardiac muscle that occurs
mainly due to mutations (> 1,400 variants) in genes encoding for the cardiac sarcomere …
mainly due to mutations (> 1,400 variants) in genes encoding for the cardiac sarcomere …
Understanding the molecular basis of cardiomyopathy
Inherited cardiomyopathies are a major cause of mortality and morbidity worldwide and can
be caused by mutations in a wide range of proteins located in different cellular …
be caused by mutations in a wide range of proteins located in different cellular …
Meta-analysis of cardiomyopathy-associated variants in troponin genes identifies loci and intragenic hot spots that are associated with worse clinical outcomes
Introduction Troponin (TNN)-encoded cardiac troponins (Tn) are critical for sensing calcium
and triggering myofilament contraction. TNN variants are associated with development of …
and triggering myofilament contraction. TNN variants are associated with development of …
[HTML][HTML] Genetic variants of uncertain significance: How to match scientific rigour and standard of proof in sudden cardiac death?
In many SCD cases, in particular in pediatric age, autopsy can be completely negative and
then a post-mortem genetic testing (molecular autopsy) is indicated. In NGS era finding …
then a post-mortem genetic testing (molecular autopsy) is indicated. In NGS era finding …
Hereditary heart disease: pathophysiology, clinical presentation, and animal models of HCM, RCM, and DCM associated with mutations in cardiac myosin light chains
Genetic cardiomyopathies, a group of cardiovascular disorders based on ventricular
morphology and function, are among the leading causes of morbidity and mortality …
morphology and function, are among the leading causes of morbidity and mortality …
A systematic review of phenotypic features associated with cardiac troponin I mutations in hereditary cardiomyopathies
J Mogensen, T Hey, S Lambrecht - Canadian Journal of Cardiology, 2015 - Elsevier
Background Genetic investigations have established that mutations in proteins of the
contractile unit of the myocardium, known as the sarcomere, may be associated with …
contractile unit of the myocardium, known as the sarcomere, may be associated with …