Results 21 to 30 of about 16,999 (238)
CaMKII-dependent regulation of cardiac Na(+) homeostasis. [PDF]
, 2014 Na(+) homeostasis is a key regulator of cardiac excitation and contraction. The cardiac voltage-gated Na(+) channel, NaV1.5, critically controls cell excitability, and altered channel gating has been implicated in both inherited and acquired arrhythmias.
Grandi, Eleonora, Herren, Anthony W
core +2 more sources
Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]
, 2018 The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
core +1 more source
The Sodium Channel B4-Subunits are Dysregulated in Temporal Lobe Epilepsy Drug-Resistant Patients [PDF]
, 2020 Temporal lobe epilepsy (TLE) is the most common type of partial epilepsy referred for surgery due to antiepileptic drug (AED) resistance. A common molecular target for many of these drugs is the voltage-gated sodium channel (VGSC).
Falciani, Francesco +4 more
core +1 more source
Frontiers in Cellular Neuroscience, 2019 Transplantation of bone marrow stromal cells (BMSCs) is a promising therapy for ischemic stroke. Previously, we had reported that the secondary degeneration occurred in the ipsilateral substantia nigra (SN) after permanent distal branch of middle ...
Jizi Jin +13 more
doaj +1 more source
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
Episodic and electrical nervous system disorders caused by nonchannel genes. [PDF]
, 2015 As noted in the separate introduction to this special topic section, episodic and electrical disorders can appear quite different clinically and yet share many overlapping features, including attack precipitants, therapeutic responses, natural history ...
Fu, Ying-Hui +2 more
core +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
New Nonsense Variant c.2983G>T; p.Glu995* in the Gene Causes Progressive Autosomal Dominant Ataxia [PDF]
Journal of Movement Disorders, 2021 The genetic testing of hereditary ataxias includes screening for CAG-repeat expansions as well as pathogenic variants and nontranslated oligonucleotide expansion, which can cause spinocerebellar ataxia (SCA).
Yannic Saathoff +3 more
doaj +1 more source
Regulation of gap junction function; the role of nitric oxide. [PDF]
, 2013 Myocardial ischemia resulting from sudden occlusion of a coronary artery is one of the major causes in the appearance of severe, often life-threatening ventricular arrhythmias.
Gönczi, Márton +3 more
core +2 more sources
Therapeutic approaches to genetic ion channelopathies and perspectives in drug discovery
Frontiers in Pharmacology, 2016 In the human genome more than 400 genes encode ion channels, which are transmembrane proteins mediating ion fluxes across membranes. Being expressed in all cell types, they are involved in almost all physiological processes, including sense perception ...
Paola eImbrici +11 more
doaj +1 more source