The role of voltage-gated sodium channels in pain signaling

DL Bennett, AJ Clark, J Huang… - Physiological …, 2019 - journals.physiology.org
Acute pain signaling has a key protective role and is highly evolutionarily conserved.
Chronic pain, however, is maladaptive, occurring as a consequence of injury and disease …

Current challenges in understanding the role of enhancers in disease

JB Zaugg, P Sahlén, R Andersson… - Nature structural & …, 2022 - nature.com
Enhancers play a central role in the spatiotemporal control of gene expression and tend to
work in a cell-type-specific manner. In addition, they are suggested to be major contributors …

Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity

S Gazal, O Weissbrod, F Hormozdiari, KK Dey… - Nature Genetics, 2022 - nature.com
Disease-associated single-nucleotide polymorphisms (SNPs) generally do not implicate
target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking …

Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

J Barc, R Tadros, C Glinge, DY Chiang, M Jouni… - Nature …, 2022 - nature.com
Brugada syndrome (BrS) is a cardiac arrhythmia disorder associated with sudden death in
young adults. With the exception of SCN5A, encoding the cardiac sodium channel NaV1. 5 …

Voltage-gated sodium channels: structure, function, pharmacology, and clinical indications

M de Lera Ruiz, RL Kraus - Journal of medicinal chemistry, 2015 - ACS Publications
The tremendous therapeutic potential of voltage-gated sodium channels (Navs) has been
the subject of many studies in the past and is of intense interest today. Nav1. 7 channels in …

The physiological function of different voltage-gated sodium channels in pain

G Goodwin, SB McMahon - Nature Reviews Neuroscience, 2021 - nature.com
Evidence from human genetic pain disorders shows that voltage-gated sodium channel α-
subtypes Nav1. 7, Nav1. 8 and Nav1. 9 are important in the peripheral signalling of pain …

Early-onset atrial fibrillation and the prevalence of rare variants in cardiomyopathy and arrhythmia genes

ZT Yoneda, KC Anderson, JA Quintana… - JAMA …, 2021 - jamanetwork.com
Importance Early-onset atrial fibrillation (AF) can be the initial manifestation of a more
serious underlying inherited cardiomyopathy or arrhythmia syndrome. Objective To examine …

Genetics of sudden cardiac death

CR Bezzina, N Lahrouchi, SG Priori - Circulation research, 2015 - Am Heart Assoc
Sudden cardiac death occurs in a broad spectrum of cardiac pathologies and is an important
cause of mortality in the general population. Genetic studies conducted during the past 20 …

The formation and function of the cardiac conduction system

JH van Weerd, VM Christoffels - Development, 2016 - journals.biologists.com
The cardiac conduction system (CCS) consists of distinctive components that initiate and
conduct the electrical impulse required for the coordinated contraction of the cardiac …

Brugada syndrome

AD Krahn, ER Behr, R Hamilton, V Probst… - Clinical …, 2022 - jacc.org
Brugada syndrome (BrS) is an “inherited” condition characterized by predisposition to
syncope and cardiac arrest, predominantly during sleep. The prevalence is∼ 1: 2,000, and …