The genetic basis of long QT and short QT syndromes: a mutation update

PL Hedley, P Jørgensen, S Schlamowitz… - Human …, 2009 - Wiley Online Library
Long QT and short QT syndromes (LQTS and SQTS) are cardiac repolarization
abnormalities that are characterized by length perturbations of the QT interval as measured …

The role of the dystrophin glycoprotein complex in muscle cell mechanotransduction

DGS Wilson, A Tinker, T Iskratsch - Communications Biology, 2022 - nature.com
Dystrophin is the central protein of the dystrophin-glycoprotein complex (DGC) in skeletal
and heart muscle cells. Dystrophin connects the actin cytoskeleton to the extracellular matrix …

[HTML][HTML] The immature electrophysiological phenotype of iPSC-CMs still hampers in vitro drug screening: Special focus on IK1

B Goversen, MAG van der Heyden… - Pharmacology & …, 2018 - Elsevier
Preclinical drug screens are not based on human physiology, possibly complicating
predictions on cardiotoxicity. Drug screening can be humanised with in vitro assays using …

Molecular pathophysiology of congenital long QT syndrome

MS Bohnen, G Peng, SH Robey… - Physiological …, 2017 - journals.physiology.org
Ion channels represent the molecular entities that give rise to the cardiac action potential,
the fundamental cellular electrical event in the heart. The concerted function of these …

Identification of a new modulator of the intercalated disc in a zebrafish model of arrhythmogenic cardiomyopathy

A Asimaki, S Kapoor, E Plovie, A Karin Arndt… - Science translational …, 2014 - science.org
Arrhythmogenic cardiomyopathy (ACM) is characterized by frequent cardiac arrhythmias. To
elucidate the underlying mechanisms and discover potential chemical modifiers, we created …

Voltage-Gated Na+ Channel SCN5A Is a Key Regulator of a Gene Transcriptional Network That Controls Colon Cancer Invasion

CD House, CJ Vaske, AM Schwartz, V Obias, B Frank… - Cancer research, 2010 - AACR
Voltage-gated Na+ channels (VGSC) have been implicated in the metastatic potential of
human breast, prostate, and lung cancer cells. Specifically, the SCN5A gene encoding the …

[HTML][HTML] Dystrophin complex functions as a scaffold for signalling proteins

B Constantin - Biochimica et Biophysica Acta (BBA)-Biomembranes, 2014 - Elsevier
Dystrophin is a 427 kDa sub-membrane cytoskeletal protein, associated with the inner
surface membrane and incorporated in a large macromolecular complex of proteins, the …

Interactions between ankyrin-G, Plakophilin-2, and Connexin43 at the cardiac intercalated disc

PY Sato, W Coombs, X Lin, O Nekrasova… - Circulation …, 2011 - Am Heart Assoc
Rationale: The early description of the intercalated disc defined 3 structures, all of them
involved in cell-cell communication: desmosomes, gap junctions, and adherens junctions …

Genetics of long-QT syndrome

Y Nakano, W Shimizu - Journal of human genetics, 2016 - nature.com
Congenital long QT syndrome (LQTS) is an inherited arrhythmia syndrome characterized by
a prolonged QT interval in the 12-lead ECG, torsades de pointes and not negligible …

Biology of cardiac sodium channel Nav1.5 expression

MB Rook, MM Evers, MA Vos… - Cardiovascular …, 2012 - academic.oup.com
Abstract Nav1. 5, the pore forming α-subunit of the voltage-dependent cardiac Na+ channel,
is an integral membrane protein involved in the initiation and conduction of action potentials …