[HTML][HTML] Arrhythmogenic ventricular cardiomyopathy: a paradigm shift from right to biventricular disease

AM Saguner, C Brunckhorst, F Duru - World journal of cardiology, 2014 - ncbi.nlm.nih.gov
Arrhythmogenic ventricular cardiomyopathy (AVC) is generally referred to as
arrhythmogenic right ventricular (RV) cardiomyopathy/dysplasia and constitutes an inherited …

Desmosomes in the heart: a review of clinical and mechanistic analyses

DM Patel, KJ Green - Cell communication & adhesion, 2014 - Taylor & Francis
Desmosomes have long been appreciated as intercellular junctions that are vital for
maintaining the structural integrity of stratified epithelia. More recent clinical investigations of …

Arrhythmogenic cardiomyopathy: Molecular insights for improved therapeutic design

TL Stevens, MJ Wallace, M El Refaey… - Journal of …, 2020 - mdpi.com
Arrhythmogenic cardiomyopathy (ACM) is an inherited disorder characterized by structural
and electrical cardiac abnormalities, including myocardial fibro-fatty replacement. Its …

Heart failure: advanced development in genetics and epigenetics

J Yang, W Xu, S Hu - BioMed research international, 2015 - Wiley Online Library
Heart failure (HF) is a complex pathophysiological syndrome that arises from a primary
defect in the ability of the heart to take in and/or eject sufficient blood. Genetic mutations …

[HTML][HTML] Recent advances in genetic testing and counseling for inherited arrhythmias

Y Mizusawa - Journal of arrhythmia, 2016 - Elsevier
Inherited arrhythmias, such as cardiomyopathies and cardiac ion channelopathies, along
with coronary heart disease (CHD) are three most common disorders that predispose adults …

[HTML][HTML] Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review

C Micolonghi, F Perrone, M Fabiani, S Caroselli… - International Journal of …, 2024 - mdpi.com
Hereditary cardiomyopathies (CMPs), including arrhythmogenic cardiomyopathy (ACM),
dilated cardiomyopathy (DCM), and hypertrophic cardiomyopathy (HCM), represent a group …

Mechanism of intermediate filament recognition by plakin repeat domains revealed by envoplakin targeting of vimentin

C Fogl, F Mohammed, C Al-Jassar, M Jeeves… - Nature …, 2016 - nature.com
Plakin proteins form critical connections between cell junctions and the cytoskeleton; their
disruption within epithelial and cardiac muscle cells cause skin-blistering diseases and …

Recommendations for accurate resolution of gene and isoform allele-specific expression in RNA-Seq data

DLA Wood, K Nones, A Steptoe, A Christ, I Harliwong… - PLoS …, 2015 - journals.plos.org
Genetic variation modulates gene expression transcriptionally or post-transcriptionally, and
can profoundly alter an individual's phenotype. Measuring allelic differential expression at …

Loss of plakoglobin immunoreactivity in intercalated discs in arrhythmogenic right ventricular cardiomyopathy: protein mislocalization versus epitope masking

S Kant, CA Krusche, A Gaertner, H Milting… - Cardiovascular …, 2016 - academic.oup.com
Aims To examine the relevance and cause of reduced plakoglobin IF in intercalated discs for
arrhythmogenic right ventricular cardiomyopathy (ARVC) and ARVC-like disease in mouse …

A comparison of genetic findings in sudden cardiac death victims and cardiac patients: the importance of phenotypic classification

CL Hertz, L Ferrero-Miliani, R Frank-Hansen… - EP …, 2015 - academic.oup.com
Sudden cardiac death (SCD) is responsible for a large proportion of non-traumatic, sudden
and unexpected deaths in young individuals. Sudden cardiac death is a known …