The physiological role of cardiac cytoskeleton and its alterations in heart failure

V Sequeira, LLAM Nijenkamp, JA Regan… - … et Biophysica Acta (BBA …, 2014‏ - Elsevier
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 …

Hypertrophic cardiomyopathy: a vicious cycle triggered by sarcomere mutations and secondary disease hits

PJM Wijnker, V Sequeira, DWD Kuster… - Antioxidants & redox …, 2019‏ - liebertpub.com
Significance: Hypertrophic cardiomyopathy (HCM) is a cardiac genetic disease
characterized by left ventricular hypertrophy, diastolic dysfunction, and myocardial disarray …

Perturbed length-dependent activation in human hypertrophic cardiomyopathy with missense sarcomeric gene mutations

V Sequeira, PJM Wijnker, LLAM Nijenkamp… - Circulation …, 2013‏ - ahajournals.org
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 …

MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy

JW McNamara, A Li, S Lal, JM Bos, SP Harris… - PloS one, 2017‏ - journals.plos.org
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 …

Genetics of hypertrophic cardiomyopathy: advances and pitfalls in molecular diagnosis and therapy

C Roma-Rodrigues, AR Fernandes - The application of clinical …, 2014‏ - Taylor & Francis
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 …

Understanding the molecular basis of cardiomyopathy

ML Bang, J Bogomolovas… - American Journal of …, 2022‏ - journals.physiology.org
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 …

Meta-analysis of cardiomyopathy-associated variants in troponin genes identifies loci and intragenic hot spots that are associated with worse clinical outcomes

HJ Tadros, CS Life, G Garcia, E Pirozzi… - Journal of molecular and …, 2020‏ - Elsevier
Introduction Troponin (TNN)-encoded cardiac troponins (Tn) are critical for sensing calcium
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?

S Grassi, O Campuzano, M Coll, M Brión, V Arena… - Legal Medicine, 2020‏ - Elsevier
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 …

Hereditary heart disease: pathophysiology, clinical presentation, and animal models of HCM, RCM, and DCM associated with mutations in cardiac myosin light chains

S Yadav, YH Sitbon, K Kazmierczak… - … -European Journal of …, 2019‏ - Springer
Genetic cardiomyopathies, a group of cardiovascular disorders based on ventricular
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 …