Results 41 to 50 of about 18,132 (269)
The Journal of Headache and Pain, 2019 Background Migraine is a debilitating neurological disorder involving abnormal trigeminovascular activation and sensitization. However, the underlying cellular and molecular mechanisms remain unclear.
Junping Cao +6 more
doaj +1 more source
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
Concealed Substrates in Brugada Syndrome: Isolated Channelopathy or Associated Cardiomyopathy?
Genes, 2022 Simple summary Having a new and more precise definition of BrS, based on its cardiomyopathic component, may be crucial to meliorate the current clinical management of patients, at (i) diagnostic, (ii) prognostic, and (iii) therapeutic levels: (i ...
C. Di Resta +9 more
semanticscholar +1 more source
Cell Communication and Signaling, 2019 Background Cholecystokinin (CCK) is implicated in the regulation of nociceptive sensitivity of primary afferent neurons. Nevertheless, the underlying cellular and molecular mechanisms remain unknown.
Shumin Yu +8 more
doaj +1 more source
Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]
, 2013 Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui +2 more
core +2 more sources
Identification of Two Rare Variants in Iranian Families With Familial Sudden Cardiac Death. [PDF]
Int J GenomicsCellular action potential is characterized by a particular sequence of depolarizing and repolarizing ion currents regulated by ion channels. Genetic mutations in these channels disrupt the essential movement of ions, such as Na+, Ca++, and K+, across the cell membrane, leading to dangerous arrhythmias and sudden cardiac death (SCD).
Tahmasebivand M +9 more
europepmc +2 more sources
Mechanistic ion channel interactions in red cells of patients with Gárdos channelopathy.
Blood Advances, 2021 In patients with Gárdos channelopathy (p.R352H), an increased concentration of intracellular Ca2+ was previously reported. This is a surprising finding because the Gárdos channel (KCa3.1) is a K+ channel. Here, we confirm the increased intracellular Ca2+
Julia Jansen +9 more
semanticscholar +1 more source
Biomolecules & Biomedicine, 2012 Hypoxia-inducible factor-1 (HIF-1) regulates the expression of hypoxia-inducible genes by binding erythropoietin (EPO) enhancer fragments. Of these genes, HIF-1 upregulates voltage-gated K+1.2 channels (Kv1.2) in rat PC12 cells.
Qian Dong +5 more
doaj +1 more source
Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement. [PDF]
, 2014 IntroductionAndersen-Tawil syndrome (ATS) is a potassium channelopathy affecting cardiac and skeletal muscle. Periodic paralysis is a presenting symptom in some patients, whereas, in others, symptomatic arrhythmias or prolongation of QT in ...
Bieganowska, Katarzyna +11 more
core +2 more sources
Biomedicines, 2023 Myotonia congenita is a hereditary muscle disease mainly characterized by muscle hyperexcitability, which leads to a sustained burst of discharges that correlates with the magnitude and duration of involuntary aftercontractions, muscle stiffness, and ...
Oscar Brenes +2 more
doaj +1 more source