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 …
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 …
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 …
predictions on cardiotoxicity. Drug screening can be humanised with in vitro assays using …
Molecular pathophysiology of congenital long QT syndrome
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 …
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 …
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
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 …
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 …
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 …
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 …
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 …
is an integral membrane protein involved in the initiation and conduction of action potentials …