Results 91 to 100 of about 9,985 (188)
Neurocardiac crosstalk in inherited cardiac arrhythmias and cardiomyopathy
The Journal of Physiology, EarlyView.Abstract figure legend In inherited cardiac arrhythmias and cardiomyopathy, arrhythmias are typically triggered by autonomic nervous system activity. Genetic mutations linked to these conditions cause pro‐arrhythmic alterations in both cardiomyocytes and neurons, with their pathophysiological crosstalk likely amplifying the manifestation of the disease.
Carol Ann Remme, Molly O'Reilly
wiley +1 more source
The Journal of Physiology, EarlyView.Abstract figure legend The capillary–mitochondria–ion channel (CMIC) axis scales structural resources to match functional workload. (Left) In settings of restricted energetic capacity (e.g. cortical neurons), sparse capillary networks and modest mitochondrial pools set a lower energetic ceiling, sufficient to support phasic, low‐workload excitability. (
L. Fernando Santana, Scott Earley
wiley +1 more source
Autoimmune Calcium Channelopathies and Cardiac Electrical Abnormalities
Frontiers in Cardiovascular Medicine, 2019 Patients with autoimmune diseases are at increased risk for developing cardiovascular diseases, and abnormal electrocardiographic findings are common.
Yongxia Sarah Qu +7 more
doaj +1 more source
Potential health benefits of cold‐water immersion: the central role of PGC‐1α
The Journal of Physiology, EarlyView.Abstract figure legend Cold‐water immersion (CWI) elicits autonomic, somato‐motoric (shivering thermogenesis), endocrine and metabolic, sensory transduction, and local biophysical effects that may converge on the transcriptional co‐activator PGC‐1α (centre).
Erich Hohenauer +2 more
wiley +1 more source
, 2020 No disease modifying therapy is currently available for Parkinson’s disease (PD), the second most common neurodegenerative disease. The long non-motor prodromal phase of PD is a window of opportunity for early detection and intervention. However, we lack
Yaka, Rami +10 more
core +1 more source
Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients [PDF]
, 2019 International audienceWe describe the clinical, hematologic and genetic characteristics of a retrospective series of 126 subjects from 64 families with hereditary xerocytosis.
Bénéteau, Claire +60 more
core +1 more source
Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes
The Journal of Physiology, EarlyView.Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière +6 more
wiley +1 more source
Sudden death in a young patient with atrial fibrillation
Cardiogenetics, 2017 Sudden cardiac death (SCD) in young patients without structural heart disease is frequently due to inherited channelopathies such as long QT syndrome (LQTS), Brugada syndrome or Catecholaminergic polymorphic ventricular tachycardia.
María Tamargo +5 more
doaj +1 more source
The Journal of Physiology, EarlyView.Abstract figure legend Schematic diagram illustrating the proposed pathway in which regulatory defects might occur in sympathetic neurons derived from hiPSC in catecholaminergic polymorphic ventricular tachycardia (CPVT). Specifically, enhanced calcium transients appeared to derive from three sources: enhanced membrane excitability (due to loss of ...
Ni Li +19 more
wiley +1 more source
SCN3A-related neurodevelopmental disorder: Clinical case reports and biophysical characterization
ChannelsSCN3A, the gene encoding the voltage-gated sodium channel, Nav1.3, plays a critical role in early neuronal development. Although traditionally considered a neonatal channel, emerging evidence has linked SCN3A mutations to a spectrum of neurodevelopmental
Mohammad-Reza Ghovanloo +12 more
doaj +1 more source