Results 41 to 50 of about 16,999 (238)
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2009 Channelopathies, defined as diseases that are caused by mutations in genes encoding ion channels, are associated with a wide variety of symptoms. Impaired chloride transport can cause diseases as diverse as cystic fibrosis, myotonia, epilepsy, hyperekplexia, lysosomal storage disease, deafness, renal salt loss, kidney stones and osteopetrosis.
Planells-Cases, Rosa, Jentsch, Thomas J.
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Clinical Medicine Insights: Cardiology, 2017 Cardiac ion channelopathies are an important cause of sudden death in the young and include long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, idiopathic ventricular fibrillation, and short QT syndrome.
Thomas M Roston +5 more
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Frontiers in Neurology, 2018 Skeletal muscle sodium channelopathies are a group of neuromuscular disorders associated with mutations in the SCN4A gene. Because principal sodium channel isoforms expressed in the skeletal muscles and the heart are distinct one from the other, this ...
Michele Cavalli +9 more
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A Novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy [PDF]
, 2013 Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding α2δ-2 subunit of Voltage Dependent Calcium Channels, is unclear. To date only one CACNA2D2 mutation altering channel functionality has been identified in a single family. In
Alessandra Maresca +11 more
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Evolutionary Covariant Positions within Calmodulin EF-hand Sequences Promote Ligand Binding [PDF]
, 2018 Intracellular calcium signaling is an essential regulatory mechanism through calcium-mediated signal transduction pathways involved in many cell processes, such as exocytosis, motility, apoptosis, excitability, transcription, and muscle contraction.
Vaidyanathan, Uma
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Pflügers Archiv - European Journal of Physiology, 2009 Human ether a go-go-related gene type 1 (hERG1) K+ channels conduct the rapid delayed rectifier K+ current and mediate action potential repolarization in the heart. Mutations in KCNH2 (the gene that encodes hERG1) causes LQT2, one of the most common forms of long QT syndrome, a disorder of cardiac repolarization that predisposes affected subjects to ...
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KCNMA1 -Linked Channelopathy [PDF]
Journal of General Physiology, 2019 KCNMA1 encodes the pore-forming α subunit of the ‘Big K + ’ (BK) large conductance calcium and voltage-activated K + channel (K Ca 1.1).
Cole S. Bailey +4 more
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Pflügers Archiv - European Journal of Physiology, 2010 Store-operated Ca2+ entry (SOCE) is an important Ca2+ influx pathway in many non-excitable and some excitable cells. It is regulated by the filling state of intracellular Ca2+ stores, notably the endoplasmic reticulum (ER). Reduction in [Ca2+]ER results in activation of plasma membrane Ca2+ channels that mediate sustained Ca2+ influx which is required ...
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Nature Clinical Practice Neurology, 2005 Autoimmune disorders of the neuromuscular junction remain a paradigm for our understanding of autoimmunity. Since the role of autoantibodies to acetylcholine receptors in the pathogenesis of myasthenia gravis was first recognized in the 1970s, a range of antibody-mediated disorders of the neuromuscular junction have been described, each associated with
Buckley, C, Vincent, A
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Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2023 Background Sudden infant death syndrome (SIDS) is the leading cause of death up to age 1. Sudden unexplained death in childhood (SUDC) is similar but affects mostly toddlers aged 1 to 4.
Maria‐Christina Kotta +10 more
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