Results 51 to 60 of about 11,955 (223)
Comprehensive Analysis of Genes Associated With Sudden Infant Death Syndrome
Frontiers in Pediatrics, 2021 Background: Sudden infant death syndrome (SIDS) is a tragic incident which remains a mystery even after post-mortem investigation and thorough researches.Methods: This comprehensive review is based on the genes reported in the molecular autopsy studies ...
Riffat Mehboob +14 more
doaj +1 more source
The channelopathies: an overview
Southern African Journal of Anaesthesia and Analgesia, 2002 What at first glance appears to be a random selection of widely differing clinical presentations and syndromes, has recently been found to have as their common underlying factor an inherited abnormality of the mechanism in the cell wall, the ion channel, which is responsible for the transmembrane passage of various ions. Included in this diverse array
openaire +2 more sources
Advanced Science, EarlyView.This study identifies that the PD‐associated TMEM175‐L156P variant disrupts lysosomal ion channel trafficking by causing aberrant endoplasmic reticulum retention. A “chaperone–agonist” bifunctional small molecule restores TMEM175‐L156P lysosomal localization and channel function, thereby alleviating PD‐relevant cellular phenotypes and highlighting a ...
Ting Luo +17 more
wiley +1 more source
Advanced Science, EarlyView.In this study, we identify a novel functional role of ZBTB18 in regulating trigeminal‐mediated neuropathic pain. Nerve injury reduces ZBTB18 in trigeminal ganglion neurons, impairing CHD4/NuRD recruitment and de‐repressing Clic1. Elevated CLIC1 enhances chloride channel activity and neuronal hyperexcitability, thereby driving pain.
Shoupeng Wang +11 more
wiley +1 more source
Cardiac sodium channelopathies [PDF]
, 2009 Cardiac sodium channel are protein complexes that are expressed in the sarcolemma of cardiomyocytes to carry a large inward depolarizing current (I-Na) during phase 0 of the cardiac action potential.
Tan, H.L. +8 more
core +2 more sources
Journal of the American Heart Association: Cardiovascular and Cerebrovascular DiseaseCardiac channelopathies are inherited arrhythmias that can lead to sudden cardiac death. Despite Africa's extensive genomic diversity, African and African‐descent populations remain underrepresented in genetic research, creating gaps in variant ...
Choshiman Taib +2 more
doaj +1 more source
Opsoclonus in Pediatric Patients: Differential Diagnosis and a Practical Approach to Evaluation
Annals of the Child Neurology Society, EarlyView.ABSTRACT Opsoclonus is an ocular dyskinesia characterized by involuntary, arrhythmic, multidirectional saccades. In pediatrics, opsoclonus is most commonly attributed to the rare neuroinflammatory disorder opsoclonus‐myoclonus‐ataxia syndrome (OMAS), typically considered a paraneoplastic syndrome associated with neural crest tumors. However, opsoclonus
Aubrey C. Reed +5 more
wiley +1 more source
Medicina, 2021 The prediction and prevention of sudden cardiac death is the philosopher’s stone of clinical cardiac electrophysiology. Sports can act as triggers of fatal arrhythmias and therefore it is essential to promptly frame the athlete at risk and to carefully ...
Giovanni Volpato +16 more
doaj +1 more source
ESC Heart Failure, Volume 12, Issue 2, Page 1295-1303, April 2025.Abstract Background Obesity is a known risk factor for cardiovascular disease (CVD), yet an ‘obesity paradox’ has been observed in various CVD contexts. The impact of obesity on heart failure (HF) patients treated with a wearable cardioverter‐defibrillator (WCD) remains underexplored.
Mohammad Abumayyaleh +18 more
wiley +1 more source
Genetic testing for inheritable cardiac channelopathies [PDF]
, 2016 Cardiac channelopathies are linked to an increased risk of ventricular arrhythmia and sudden death. This article reviews the clinical characteristics and genetic basis of common cardiac ion-channel diseases, highlights some genotype–phenotype ...
Kaski, JP, Szepesvry, E
core +1 more source