How functional genomics can keep pace with VUS identification

CL Anderson, S Munawar, L Reilly, TJ Kamp… - Frontiers in …, 2022 - frontiersin.org
Over the last two decades, an exponentially expanding number of genetic variants have
been identified associated with inherited cardiac conditions. These tremendous gains also …

Cardiac side effects of RNA‐based SARS‐CoV‐2 vaccines: hidden cardiotoxic effects of mRNA‐1273 and BNT162b2 on ventricular myocyte function and structure

R Schreckenberg, N Woitasky, N Itani… - British Journal of …, 2024 - Wiley Online Library
Abstract Background and Purpose To protect against SARS‐CoV‐2 infection, the first mRNA‐
based vaccines, Spikevax (mRNA‐1273, Moderna) and Comirnaty (BNT162b2 …

Therapeutic potential of alternative splicing in cardiovascular diseases

J Cao, Z Wei, Y Nie, HZ Chen - Ebiomedicine, 2024 - thelancet.com
RNA splicing is an important RNA processing step required by multiexon protein-coding
mRNAs and some noncoding RNAs. Precise RNA splicing is required for maintaining gene …

Ryanodine receptor inhibition with acute dantrolene treatment reduces arrhythmia susceptibility in human hearts

SA George, JA Brennan-McLean… - American Journal …, 2023 - journals.physiology.org
Ryanodine receptor 2 (RyR2) hyperactivity is observed in structural heart diseases that are a
result of ischemia or heart failure. It causes abnormal calcium handling and calcium leaks …

Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and …

O Bar, L Ebenau, K Weiner, M Mintz… - Frontiers in …, 2023 - frontiersin.org
Objective To utilize whole exome or genome sequencing and the scientific literature for
identifying candidate genes for cyclic vomiting syndrome (CVS), an idiopathic migraine …

The ryanodine receptor–calstabin interaction stabilizer S107 protects hippocampal neurons from GABAergic synaptic alterations induced by Abeta42 oligomers

E Hidisoglu, G Chiantia, C Franchino… - The Journal of …, 2022 - Wiley Online Library
The oligomeric form of the peptide amyloid beta 42 (Abeta42) contributes to the
development of synaptic abnormalities and cognitive impairments associated with …

Calcium handling in inherited cardiac diseases: a focus on catecholaminergic polymorphic ventricular tachycardia and hypertrophic cardiomyopathy

S Zaffran, L Kraoua, H Jaouadi - International Journal of Molecular …, 2023 - mdpi.com
Calcium (Ca2+) is the major mediator of cardiac contractile function. It plays a key role in
regulating excitation–contraction coupling and modulating the systolic and diastolic phases …

Ion channel trafficking implications in heart failure

JB Reisqs, YS Qu, M Boutjdir - Frontiers in Cardiovascular Medicine, 2024 - frontiersin.org
Heart failure (HF) is recognized as an epidemic in the contemporary world, impacting
around 1%–2% of the adult population and affecting around 6 million Americans. HF …

[HTML][HTML] Adeno-Associated Virus-mediated Gene Therapy for Cardiac Tachyarrhythmia: A Systematic Review and Meta-analysis

J Mundisugih, S Kumar, E Kizana - Heart Rhythm, 2024 - Elsevier
Cardiac tachyarrhythmia presents a significant healthcare challenge, causing notable
morbidity and mortality. Conventional treatments have limitations and potential risks …

Evolution of ion channels in cetaceans: A natural experiment in the Tree of life

C Uribe, MF Nery, K Zavala, GA Mardones, G Riadi… - bioRxiv, 2023 - biorxiv.org
Cetaceans could be seen as a natural experiment within the tree of life in which a
mammalian lineage changed from terrestrial to aquatic habitats. This shift involved extensive …