Molecular physiology of cardiac repolarization

JM Nerbonne, RS Kass - Physiological reviews, 2005 - journals.physiology.org
The heart is a rhythmic electromechanical pump, the functioning of which depends on action
potential generation and propagation, followed by relaxation and a period of refractoriness …

Actin binding proteins: regulation of cytoskeletal microfilaments

CG Dos Remedios, D Chhabra, M Kekic… - Physiological …, 2003 - journals.physiology.org
The actin cytoskeleton is a complex structure that performs a wide range of cellular
functions. In 2001, significant advances were made to our understanding of the structure and …

2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy

JA Towbin, WJ McKenna, DJ Abrams, MJ Ackerman… - Heart rhythm, 2019 - Elsevier
Arrhythmogenic cardiomyopathy (ACM) is an arrhythmogenic disorder of the myocardium
not secondary to ischemic, hypertensive, or valvular heart disease. ACM incorporates a …

2011 consensus statement on endomyocardial biopsy from the Association for European Cardiovascular Pathology and the Society for Cardiovascular Pathology

O Leone, JP Veinot, A Angelini, UT Baandrup… - Cardiovascular …, 2012 - Elsevier
The Association for European Cardiovascular Pathology and the Society for Cardiovascular
Pathology have produced this position paper concerning the current role of endomyocardial …

Recessive mutation in desmoplakin disrupts desmoplakin–intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma

EE Norgett, SJ Hatsell, L Carvajal-Huerta… - Human molecular …, 2000 - academic.oup.com
Desmosomes are major cell adhesion junctions, particularly prominent in the epidermis and
cardiac tissue and are important for the rigidity and strength of the cells. The desmosome …

Genetics of dilated cardiomyopathy: practical implications for heart failure management

AN Rosenbaum, KE Agre, NL Pereira - Nature Reviews Cardiology, 2020 - nature.com
Given the global burden of heart failure, strategies to understand the underlying cause or to
provide prognostic information are critical to reducing the morbidity and mortality associated …

Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy

M Kamisago, SD Sharma, SR DePalma… - … England Journal of …, 2000 - Mass Medical Soc
Background The molecular basis of idiopathic dilated cardiomyopathy, a primary myocardial
disorder that results in reduced contractile function, is largely unknown. Some cases of …

Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies

MF Ortiz-Genga, S Cuenca, M Dal Ferro, E Zorio… - Journal of the American …, 2016 - jacc.org
Background: Filamin C (encoded by the FLNC gene) is essential for sarcomere attachment
to the plasmatic membrane. FLNC mutations have been associated with myofibrillar …

Management of cardiac involvement associated with neuromuscular diseases: a scientific statement from the American Heart Association

B Feingold, WT Mahle, S Auerbach, P Clemens… - Circulation, 2017 - Am Heart Assoc
For many neuromuscular diseases (NMDs), cardiac disease represents a major cause of
morbidity and mortality. The management of cardiac disease in NMDs is made challenging …

Intermediate filament proteins and their associated diseases

MB Omary, PA Coulombe… - New England Journal of …, 2004 - Mass Medical Soc
Intermediate filaments provide scaffolding for the cell and protect it against stress. This
comprehensive review points out that there are more than 100 intermediate filament genes …