Molecular mechanisms of arrhythmogenic cardiomyopathy

KM Austin, MA Trembley, SF Chandler… - Nature Reviews …, 2019 - nature.com
Arrhythmogenic cardiomyopathy is a genetic disorder characterized by the risk of life-
threatening arrhythmias, myocardial dysfunction and fibrofatty replacement of myocardial …

Arrhythmogenic right ventricular cardiomyopathy

AD Krahn, AAM Wilde, H Calkins, A La Gerche… - Clinical …, 2022 - jacc.org
Arrhythmogenic right ventricular cardiomyopathy (ARVC) encompasses a group of
conditions characterized by right ventricular fibrofatty infiltration, with a predominant …

[HTML][HTML] Large-scale sequencing of flatfish genomes provides insights into the polyphyletic origin of their specialized body plan

Z Lü, L Gong, Y Ren, Y Chen, Z Wang, L Liu, H Li… - Nature …, 2021 - nature.com
The evolutionary and genetic origins of the specialized body plan of flatfish are largely
unclear. We analyzed the genomes of 11 flatfish species representing 9 of the 14 …

[HTML][HTML] Transmembrane proteins with unknown function (TMEMs) as ion channels: electrophysiological properties, structure, and pathophysiological roles

H Kang, CJ Lee - Experimental & Molecular Medicine, 2024 - nature.com
A transmembrane (TMEM) protein with an unknown function is a type of membrane-
spanning protein expressed in the plasma membrane or the membranes of intracellular …

[HTML][HTML] Arrhythmogenic cardiomyopathy: electrical and structural phenotypes

D Akdis, C Brunckhorst, F Duru… - Arrhythmia & …, 2016 - ncbi.nlm.nih.gov
This overview gives an update on the molecular mechanisms, clinical manifestations,
diagnosis and therapy of arrhythmogenic cardiomyopathy (ACM). ACM is mostly hereditary …

A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder

MW Jang, DY Oh, E Yi, X Liu, J Ling… - Proceedings of the …, 2021 - National Acad Sciences
Genes that are primarily expressed in cochlear glia-like supporting cells (GLSs) have not
been clearly associated with progressive deafness. Herein, we present a deafness locus …

[HTML][HTML] Linker of nucleoskeleton and cytoskeleton complex proteins in cardiomyopathy

MJ Stroud - Biophysical reviews, 2018 - Springer
The linker of nucleoskeleton and cytoskeleton (LINC) complex couples the nuclear lamina to
the cytoskeleton. The LINC complex and its associated proteins play diverse roles in cells …

Sex-related differences in cardiomyopathies

F Pelliccia, G Limongelli, C Autore… - International journal of …, 2019 - Elsevier
Cardiomyopathies (CMPs) are a heterogeneous group of heart muscle diseases with
several different phenotypes defined as myocardial disorders in which the heart muscle is …

[HTML][HTML] State of the art review on genetics and precision medicine in arrhythmogenic cardiomyopathy

V Patel, B Asatryan, B Siripanthong, PB Munroe… - International journal of …, 2020 - mdpi.com
Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiomyopathy characterised by
ventricular arrhythmia and an increased risk of sudden cardiac death (SCD). Numerous …

Pathogenesis of arrhythmogenic cardiomyopathy

A Asimaki, AG Kleber, JE Saffitz - Canadian Journal of Cardiology, 2015 - Elsevier
Arrhythmogenic cardiomyopathy (ACM) is a primary myocardial disease. It is characterized
by frequent ventricular arrhythmias and increased risk of sudden cardiac death typically …