Computational models in cardiology

SA Niederer, J Lumens, NA Trayanova - Nature reviews cardiology, 2019 - nature.com
The treatment of individual patients in cardiology practice increasingly relies on advanced
imaging, genetic screening and devices. As the amount of imaging and other diagnostic …

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 …

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 …

Induced pluripotent stem cells used to reveal drug actions in a long QT syndrome family with complex genetics

C Terrenoire, K Wang, KW Chan Tung… - Journal of General …, 2013 - rupress.org
Understanding the basis for differential responses to drug therapies remains a challenge
despite advances in genetics and genomics. Induced pluripotent stem cells (iPSCs) offer an …

SCN5A Variants: Association With Cardiac Disorders

W Li, L Yin, C Shen, K Hu, J Ge, A Sun - Frontiers in physiology, 2018 - frontiersin.org
The SCN5A gene encodes the alpha subunit of the main cardiac sodium channel Nav1. 5.
This channel predominates inward sodium current (INa) and plays a critical role in …

Crystal structure of the ternary complex of a NaV C-terminal domain, a fibroblast growth factor homologous factor, and calmodulin

C Wang, BC Chung, H Yan, SY Lee, GS Pitt - Structure, 2012 - cell.com
Summary Voltage-gated Na+(Na V) channels initiate neuronal action potentials. Na V
channels are composed of a transmembrane domain responsible for voltage-dependent …

Crystallographic basis for calcium regulation of sodium channels

M Sarhan, F Van Petegem, CA Ahern - Biophysical journal, 2012 - cell.com
1649-Pos Board B419 Tailoring m-Conotoxin-KIIIA to Selectively Inhibit NaV1. 7 Jeff R.
McArthur, Gurpreet Singh, Denis McMaster, Robert Winkfein, D. Peter Tieleman, Robert J …

Solution NMR structure of Apo-calmodulin in complex with the IQ motif of human cardiac sodium channel NaV1. 5

B Chagot, WJ Chazin - Journal of molecular biology, 2011 - Elsevier
The function of the human voltage-gated sodium channel NaV1. 5 is regulated in part by
intracellular calcium signals. The ubiquitous calcium sensor protein calmodulin (CaM) is an …

Alternative paradigms for ion channelopathies: disorders of ion channel membrane trafficking and posttranslational modification

J Curran, PJ Mohler - Annual review of physiology, 2015 - annualreviews.org
Channelopathies are a diverse set of disorders associated with defects in ion channel (and
transporter) function. Although the vast majority of channelopathies are linked with inherited …

Crystal structures of Ca2+–calmodulin bound to NaV C-terminal regions suggest role for EF-hand domain in binding and inactivation

BR Gardill, RE Rivera-Acevedo… - Proceedings of the …, 2019 - National Acad Sciences
Voltage-gated sodium (NaV) and calcium channels (CaV) form targets for calmodulin (CaM),
which affects channel inactivation properties. A major interaction site for CaM resides in the …