Results 21 to 30 of about 16,843 (240)
Frontiers in Cardiovascular Medicine, 2022 Disease modeling using human-induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) has both challenges and promise. While patient-derived iPSC-CMs provide a unique opportunity for disease modeling with isogenic cells, the challenge is that ...
Louise Reilly +4 more
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Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes [PDF]
, 2020 Background: Accurate interpretation of rare genetic variants is a challenge for clinical translation. Updates in recommendations for rare variant classification require the reanalysis and reclassification.
Abou Tayoun +27 more
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Journal of Cardiovascular Development and Disease, 2016 Cardiovascular diseases and, among them, channelopathies and cardiomyopathies are a major cause of death worldwide. The molecular and genetic defects underlying these cardiac disorders are complex, leading to a large range of structural and functional ...
Ouarda Taghli-Lamallem +2 more
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Frontiers in Neurology, 2020 Myotonic disorders are inherited neuromuscular diseases divided into dystrophic myotonias and non-dystrophic myotonias (NDM). The latter is a group of dominant or recessive diseases caused by mutations in genes encoding ion channels that participate in ...
Fernando Morales, Michael Pusch
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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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Viruses, 2020 Ion channels play key roles in almost all facets of cellular physiology and have emerged as key host cell factors for a multitude of viral infections. A catalogue of ion channel-blocking drugs have been shown to possess antiviral activity, some of which ...
Frank W. Charlton +6 more
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Aetiology of sudden cardiac death in sport: a histopathologist's perspective. [PDF]
, 2012 In the UK, when a young person dies suddenly, the coroner is responsible for establishing the cause of death. They will ask a consultant pathologist to carry out an autopsy in order to ascertain when, where and how that person died.
Sheppard, MN
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Stroke-Like Episodes in PMM2-CDG: When the Lack of Other Evidence Is the Only Evidence
Frontiers in Pediatrics, 2021 Phosphomannomutase 2 deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. PMM2-CDG patients develop chronic cerebellar atrophy as a neurological hallmark.
Mercedes Serrano, Mercedes Serrano
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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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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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