Potential theranostic roles of SLC4 molecules in human diseases

J Zhong, J Dong, W Ruan, X Duan - International Journal of Molecular …, 2023 - mdpi.com
The solute carrier family 4 (SLC4) is an important protein responsible for the transport of
various ions across the cell membrane and mediating diverse physiological functions, such …

Primary Electrical Heart Disease—Principles of Pathophysiology and Genetics

K Badura, D Buławska, B Dąbek, A Witkowska… - International Journal of …, 2024 - mdpi.com
Primary electrical heart diseases, often considered channelopathies, are inherited genetic
abnormalities of cardiomyocyte electrical behavior carrying the risk of malignant arrhythmias …

The structural insight into the functional modulation of human anion exchanger 3

L Jian, Q Zhang, D Yao, Q Wang, M Chen, Y Xia… - Nature …, 2024 - nature.com
Abstract Anion exchanger 3 (AE3) is pivotal in regulating intracellular pH across excitable
tissues, yet its structural intricacies and functional dynamics remain underexplored …

Impacts of gene variants on drug effects-the foundation of genotype-guided pharmacologic therapy for long QT syndrome and short QT syndrome

Z Zhao, X Zang, K Niu, W Song, X Wang, A Mügge… - …, 2024 - thelancet.com
The clinical significance of optimal pharmacotherapy for inherited arrhythmias such as short
QT syndrome (SQTS) and long QT syndrome (LQTS) has been increasingly recognised. The …

Congenial short QT syndrome: A review focused on electrocardiographic features

AR Pérez-Riera, R Barbosa-Barros… - Journal of …, 2024 - Elsevier
Congenital short QT syndrome is a very low prevalence inherited primary arrhythmia
syndrome first reported in 2000 by Gussak et al., who described two families with a short QT …

[HTML][HTML] Identifying the Pathogenic Variants in Heart Genes in Vietnamese Sudden Unexplained Death Victims by Next-Generation Sequencing

T Nguyen Tat, NTK Lien, H Luu Sy, T Ta Van… - Diagnostics, 2024 - mdpi.com
In forensics, one-third of sudden deaths remain unexplained after a forensic autopsy. A
majority of these sudden unexplained deaths (SUDs) are considered to be caused by …

“Short” also matters

CH Lee, MM Scheinman - Heart Rhythm, 2023 - heartrhythmjournal.com
Discussion SQTS is a rare genetic cardiac channelopathy associated with life-threatening
arrhythmias. The short atrial and ventricular effective refractory periods increase the …

Human Genetics of Cardiac Arrhythmias

E Schulze-Bahr, S Dittmann - … Heart Diseases: The Broken Heart: Clinical …, 2024 - Springer
Inherited forms of cardiac arrhythmias mostly are rare diseases (prevalence< 1: 2000) and
considered to be either “primary electrical heart disorders” due to the absence of structural …

Kardiogenetik in Deutschland–ein (Rück‑) Blick

E Schulze-Bahr - Herzschrittmachertherapie+ Elektrophysiologie, 2024 - Springer
Zusammenfassung Die Entwicklung des Kardiogenetik in Deutschland hat seit der Mitte der
90er Jahre eine zunehmende Entwicklung mit vielen eigenen, zum Teil wichtigen und …

Short QT syndrome: Advancing our understanding of genetics and cardiac physiology

MH Gollob - Heart rhythm, 2023 - pubmed.ncbi.nlm.nih.gov
Short QT syndrome: Advancing our understanding of genetics and cardiac physiology Short
QT syndrome: Advancing our understanding of genetics and cardiac physiology Heart …