Genetics of sudden cardiac death

CR Bezzina, N Lahrouchi, SG Priori - Circulation research, 2015 - ahajournals.org
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 …

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 …

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 …

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 …

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 …

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 …

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 develo** 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 …

Development of the human heart

M Sylva, MJB Van Den Hoff… - American Journal of …, 2014 - Wiley Online Library
Molecular and genetic studies around the turn of this century have revolutionized the field of
cardiac development. We now know that the primary heart tube, as seen in the early embryo …