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 …

Genomic analyses implicate noncoding de novo variants in congenital heart disease

F Richter, SU Morton, SW Kim, A Kitaygorodsky… - Nature …, 2020 - nature.com
A genetic etiology is identified for one-third of patients with congenital heart disease (CHD),
with 8% of cases attributable to coding de novo variants (DNVs). To assess the contribution …

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 …

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

CR Bezzina, J Barc, Y Mizusawa, CA Remme… - Nature …, 2013 - nature.com
Brugada syndrome is a rare cardiac arrhythmia disorder, causally related to SCN5A
mutations in around 20% of cases,,. Through a genome-wide association study of 312 …

Suboptimization of developmental enhancers

EK Farley, KM Olson, W Zhang, AJ Brandt, DS Rokhsar… - Science, 2015 - science.org
Transcriptional enhancers direct precise on-off patterns of gene expression during
development. To explore the basis for this precision, we conducted a high-throughput …

Models of human core transcriptional regulatory circuitries

V Saint-André, AJ Federation, CY Lin… - Genome …, 2016 - genome.cshlp.org
A small set of core transcription factors (TFs) dominates control of the gene expression
program in embryonic stem cells and other well-studied cellular models. These core TFs …

[PDF][PDF] Complex interdependence regulates heterotypic transcription factor distribution and coordinates cardiogenesis

L Luna-Zurita, CU Stirnimann, S Glatt, BL Kaynak… - Cell, 2016 - cell.com
Transcription factors (TFs) are thought to function with partners to achieve specificity and
precise quantitative outputs. In the developing heart, heterotypic TF interactions, such as …

Mutations in SCN10A Are Responsible for a Large Fraction of Cases of Brugada Syndrome

D Hu, H Barajas-Martínez, R Pfeiffer, F Dezi… - Journal of the American …, 2014 - jacc.org
Background: BrS is an inherited sudden cardiac death syndrome. Less than 35% of BrS
probands have genetically identified pathogenic variants. Recent evidence has implicated …

[HTML][HTML] A common genetic variant within SCN10A modulates cardiac SCN5A expression

M van den Boogaard, S Smemo… - The Journal of …, 2014 - Am Soc Clin Investig
Variants in SCN10A, which encodes a voltage-gated sodium channel, are associated with
alterations of cardiac conduction parameters and the cardiac rhythm disorder Brugada …