Calcium channelopathies and intellectual disability: a systematic review
M Kessi, B Chen, J Peng, F Yan, L Yang… - Orphanet journal of rare …, 2021 - Springer
Background Calcium ions are involved in several human cellular processes including
corticogenesis, transcription, and synaptogenesis. Nevertheless, the relationship between …
corticogenesis, transcription, and synaptogenesis. Nevertheless, the relationship between …
Towards precision medicine with human iPSCs for cardiac channelopathies
Long-QT syndrome, a frequently fatal inherited arrhythmia syndrome caused by genetic
variants (congenital) or drugs (acquired), affects 1 in 2000 people worldwide. Its sentinel …
variants (congenital) or drugs (acquired), affects 1 in 2000 people worldwide. Its sentinel …
High-throughput reclassification of SCN5A variants
AM Glazer, Y Wada, B Li, A Muhammad… - The American Journal of …, 2020 - cell.com
Partial or complete loss-of-function variants in SCN5A are the most common genetic cause
of the arrhythmia disorder Brugada syndrome (BrS1). However, the pathogenicity of SCN5A …
of the arrhythmia disorder Brugada syndrome (BrS1). However, the pathogenicity of SCN5A …
Voltage-Gated Ca2+-Channel α1-Subunit de novo Missense Mutations: Gain or Loss of Function – Implications for Potential Therapies
J Striessnig - Frontiers in synaptic neuroscience, 2021 - frontiersin.org
This review summarizes our current knowledge of human disease-relevant genetic variants
within the family of voltage gated Ca2+ channels. Ca2+ channelopathies cover a wide …
within the family of voltage gated Ca2+ channels. Ca2+ channelopathies cover a wide …
Precision medicine and cardiac channelopathies: when dreams meet reality
Precision Medicine (PM) is an innovative approach that, by relying on large populations'
datasets, patients' genetics and characteristics, and advanced technologies, aims at …
datasets, patients' genetics and characteristics, and advanced technologies, aims at …
High-throughput phenotyping of heteromeric human ether-à-go-go-related gene potassium channel variants can discriminate pathogenic from rare benign variants
Background KCNH2 encodes the human ether-à-go-go-related gene potassium channel,
which passes the rapid delayed rectifier potassium current. Loss-of-function variants in …
which passes the rapid delayed rectifier potassium current. Loss-of-function variants in …
Deciphering pathogenicity of variants of uncertain significance with CRISPR-edited iPSCs
Genetic variants play an important role in conferring risk for cardiovascular diseases (CVDs).
With the rapid development of next-generation sequencing (NGS), thousands of genetic …
With the rapid development of next-generation sequencing (NGS), thousands of genetic …
Simultaneous electromechanical monitoring in engineered heart tissues using a mesoscale framework
Engineered heart tissues (EHTs) generated from human induced pluripotent stem cell–
derived cardiomyocytes (hiPSC-CMs) represent powerful platforms for human cardiac …
derived cardiomyocytes (hiPSC-CMs) represent powerful platforms for human cardiac …
A computational model of induced pluripotent stem-cell derived cardiomyocytes for high throughput risk stratification of KCNQ1 genetic variants
In the last decade, there has been tremendous progress in identifying genetic anomalies
linked to clinical disease. New experimental platforms have connected genetic variants to …
linked to clinical disease. New experimental platforms have connected genetic variants to …
[HTML][HTML] Long QT syndrome–Bench to bedside
D Ponce-Balbuena, I Deschênes - Heart Rhythm O2, 2021 - Elsevier
Long QT syndrome (LQTS) is a cardiovascular disorder characterized by an abnormality in
cardiac repolarization leading to a prolonged QT interval and T-wave irregularities on the …
cardiac repolarization leading to a prolonged QT interval and T-wave irregularities on the …