Results 31 to 40 of about 9,985 (188)

The Link Between Sex Hormones and Susceptibility to Cardiac Arrhythmias: From Molecular Basis to Clinical Implications

open access: yesFrontiers in Cardiovascular Medicine, 2021
It is well-known that gender is an independent risk factor for some types of cardiac arrhythmias. For example, males have a greater prevalence of atrial fibrillation and the Brugada Syndrome.
Sarah Costa   +7 more
doaj   +1 more source

Novel Genetic Variants Expand the Functional, Molecular, and Pathological Diversity of KCNA1 Channelopathy

open access: yes, 2023
The KCNA1 gene encodes Kv1.1 voltage-gated potassium channel α subunits, which are crucial for maintaining healthy neuronal firing and preventing hyperexcitability.
Edward Glasscock, Kelsey Paulhus
core   +1 more source

Flipping syncope: The case of an adolescent athlete with syncopal episodes ultimately diagnosed with catecholaminergic polymorphic ventricular tachycardia

open access: yesClinical Case Reports, 2020
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a channelopathy which can lead to fatal ventricular arrhythmias. The diagnosis can be challenging due to a wide variety of clinical presentations.
Collin C. Kramer   +3 more
doaj   +1 more source

Roles for Countercharge in the Voltage Sensor Domain of Ion Channels

open access: yesFrontiers in Pharmacology, 2020
Voltage-gated ion channels share a common structure typified by peripheral, voltage sensor domains. Their S4 segments respond to alteration in membrane potential with translocation coupled to ion permeation through a central pore domain.
James R. Groome   +2 more
doaj   +1 more source

Small fiber neuropathy

open access: yesАнналы клинической и экспериментальной неврологии, 2017
Despite the fact that small fiber neuropathy (SFN) has already been studied for 30 years, it remains one of the most mysterious diseases that are extremely difficult to diagnose and cure.
Natalya A. Suponeva   +6 more
doaj   +1 more source

Additional file 8 of 1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants

open access: yes, 2022
Additional file 8: Allele frequencies of pathogenic and likely pathogenic cardiac channelopathy variants across different genomic ...
Anjali Bajaj (13206910)   +17 more
core   +1 more source

INWARD RECTIFIERS AND THEIR REGULATION BY ENDOGENOUS POLYAMINES

open access: yesFrontiers in Physiology, 2014
Inwardly-rectifying potassium (Kir) channels contribute to maintenance of the resting membrane potential and regulation of electrical excitation in many cell types.
Victoria A Baronas   +1 more
doaj   +1 more source

Genetic Variants in <i>SDC3</i>, <i>KCNA2</i>, <i>KCNK1</i>, <i>KCNK16,</i> and <i>Heat Shock Transcription Factor-1</i> Genes: An Exploratory Analysis Supporting the Piezo2 Channelopathy Hypothesis in Amyotrophic Lateral Sclerosis Onset. [PDF]

open access: yesInt J Mol Sci
Amyotrophic lateral sclerosis (ALS) is a multisystem progressive neurodegenerative disease. A recent theory of ALS onsetting pathogenesis proposed that the initiating primary damage is an acquired irreversible intrafusal proprioceptive terminal PIEZO2 ...
Sonkodi B   +5 more
europepmc   +2 more sources

Studying Brugada Syndrome With an SCN1B Variants in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes

open access: yesFrontiers in Cell and Developmental Biology, 2019
BackgroundAmong rare channelopathies BrS patients are at high risk of sudden cardiac death (SCD). SCN5A mutations are found in a quarter of patients. Other rare gene mutations including SCN1B have been implicated to BrS.
Ibrahim El-Battrawy   +38 more
doaj   +1 more source

Sepsis induced channelopathy in skeletal muscles is associated with expression of non selective channels [PDF]

open access: yes, 2018
Skeletal muscles (similar to 50% of the body weight) are affected during acute and late sepsis and represent one sepsis associate organ dysfunction. Cell membrane changes have been proposed to result from a channelopathy of yet unknown cause associated ...
Rosalba Escamilla   +20 more
core   +1 more source

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