Genomic enhancers in cardiac development and disease

CG Anene-Nzelu, MCJ Lee, WLW Tan… - Nature Reviews …, 2022 - nature.com
Abstract The Human Genome Project marked a major milestone in the scientific community
as it unravelled the~ 3 billion bases that are central to crucial aspects of human life. Despite …

Modeling human cardiac arrhythmias: insights from zebrafish

S Gauvrit, J Bossaer, J Lee, MM Collins - Journal of Cardiovascular …, 2022 - mdpi.com
Cardiac arrhythmia, or irregular heart rhythm, is associated with morbidity and mortality and
is described as one of the most important future public health challenges. Therefore …

Patient-specific TBX5-G125R variant induces profound transcriptional deregulation and atrial dysfunction

AF van Ouwerkerk, FM Bosada, K van Duijvenboden… - Circulation, 2022 - Am Heart Assoc
Background: The pathogenic missense variant p. G125R in TBX5 (T-box transcription factor
5) causes Holt–Oram syndrome (also known as hand–heart syndrome) and early onset of …

Virtual and augmented reality: New tools for visualizing, analyzing, and communicating complex morphology

RL Cieri, ML Turner, RM Carney… - Journal of …, 2021 - Wiley Online Library
Virtual and augmented reality (VR/AR) are new technologies with the power to revolutionize
the study of morphology. Modern imaging approaches such as computed tomography, laser …

The WNT7A/WNT7B/GPR124/RECK signaling module plays an essential role in mammalian limb development

Y Wang, A Venkatesh, J Xu, M Xu, J Williams… - …, 2022 - journals.biologists.com
In central nervous system vascular endothelial cells, signaling via the partially redundant
ligands WNT7A and WNT7B requires two co-activator proteins, GPR124 and RECK. WNT7A …

A Variant Noncoding Region Regulates Prrx1 and Predisposes to Atrial Arrhythmias

FM Bosada, MR Rivaud, JS Uhm, S Verheule… - Circulation …, 2021 - Am Heart Assoc
Rationale: Atrial fibrillation (AF) is the most common cardiac arrhythmia diagnosed in clinical
practice. Genome-wide association studies have identified AF-associated common variants …

A phenotype-based forward genetic screen identifies Dnajb6 as a sick sinus syndrome gene

Y Ding, D Lang, J Yan, H Bu, H Li, K Jiao, J Yang, H Ni… - Elife, 2022 - elifesciences.org
Previously we showed the generation of a protein trap library made with the gene-break
transposon (GBT) in zebrafish (Danio rerio) that could be used to facilitate novel functional …

Transcriptional regulation of the postnatal cardiac conduction system heterogeneity

Y Oh, R Abid, S Dababneh, M Bakr, T Aslani… - Nature …, 2024 - nature.com
The cardiac conduction system (CCS) is a network of specialized cardiomyocytes that
coordinates electrical impulse generation and propagation for synchronized heart …

Inherited and acquired rhythm disturbances in sick sinus syndrome, Brugada syndrome, and atrial fibrillation: Lessons from preclinical modeling

L Iop, S Iliceto, G Civieri, F Tona - Cells, 2021 - mdpi.com
Rhythm disturbances are life-threatening cardiovascular diseases, accounting for many
deaths annually worldwide. Abnormal electrical activity might arise in a structurally normal …

Molecular profiling of the cardiac conduction system: the Dawn of a new era

S Mantri, SM Wu, WR Goodyer - Current Cardiology Reports, 2021 - Springer
Abstract Purpose of Review Recent technological advances have led to an increased ability
to define the gene expression profile of the cardiac conduction system (CCS). Here, we …