Results 21 to 30 of about 9,035 (197)
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
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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
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Cardiogenetics, 2011 On behalf of the Working Group on Cellular and Molecular Biology of the Italian Society of Cardiology, we are glad to present this special issue devoted to Channelopathies, the genetically transmitted ion channel diseases.The relevance of Channelopathies
Lia Crotti
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News and views on ion channels in cancer: is cancer a channelopathy?
Frontiers in Pharmacology, 2023 Ion channels are key signaling proteins found throughout the body; they are critical in many, wide-ranging physiological processes, from gene expression, sensory perception and processing to the cardiac action potential.
Damian C. Bell +3 more
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Brain and Behavior, 2021 Background Autism spectrum disorder (ASD) and epilepsy are highly comorbid, suggesting potential overlap in genetic etiology, pathophysiology, and neurodevelopmental abnormalities; however, the nature of this relationship remains unclear.
Jagadeeswaran Indumathy +4 more
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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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Sudden cardiac death: focus on the genetics of channelopathies and cardiomyopathies
Journal of Biomedical Science, 2017 Sudden cardiac death (SCD) describes a natural and unexpected death from cardiac causes occurring within a short period of time (generally within 1 h of symptom onset) in the absence of any other potentially lethal condition.
Simona Magi +4 more
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Overlapping Autoimmune Syndromes in Patients With Glial Fibrillary Acidic Protein Antibodies
Frontiers in Neurology, 2018 BackgroundGlial fibrillary acidic protein (GFAP) astrocytopathy, an autoimmune central nervous system disorder with a specific GFAP-IgG, often coexists with other antibodies.ObjectiveThe aim of this article was to study overlapping syndromes in ...
Xinguang Yang +16 more
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Angewandte Chemie, EarlyView.Here we demonstrate that weak HB CH donor cyanostilbenes promote water/ion transport through their ability to form less‐ordered transient water channels within the lipid bilayer with increased water permeability and NO3−/ Cl− selectivity. ABSTRACT Transmembrane water transport strongly depends on how dynamic, translocating water clusters are stabilized
Ioan Stroia +6 more
wiley +2 more sources
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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