IndraLab

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Mutated SCN5A activates sodium(1+). 9 / 9
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"Furthermore, the loss of function SCN5A mutation impedes phase 0 entrance of sodium into cardiomyocytes (depolarization) and phase 2 efflux of sodium (plateau) - it is this gradient that allows calcium to enter the cell via the sodium/calcium exchanger, but the lack of calcium influx would lead to weakened contractility [38]."
| PMC
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"In contrast, loss of function SCN5A mutations underlying Brugada syndrome and conduction disease were reported to reduce the total amount of available sodium current, either owing to impaired intracel[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
18436145
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"It was suggested that Allicin can not only inhibit the I Na, L of the DeltaKPQ SCN5A mutation but also increase the distribution of the sodium channels on the cell membrane, thus increasing the I Na, P and further reducing the ratio of the I Na, L / I Na, P."
33854440
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"As " gain-of-function " SCN5A mutations induce an excess of sodium entering into the cells, sodium channel blockade represents a rational approach for gene specific therapy in LQT3."
29983085
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"By contrast, SCN5A mutations probably cause subtle alterations of cardiac sodium channel function and prolonged depolarizing currents."
7788908
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"Furthermore, the loss of function SCN5A mutation impedes phase 0 entrance of sodium into cardiomyocytes (depolarization) and phase 2 efflux of sodium (plateau) - it is this gradient that allows calcium to enter the cell via the sodium/calcium exchanger, but the lack of calcium influx would lead to weakened contractility [XREF_BIBR]."
| PMC
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"Importantly, one single SCN5A mutation may cause several changes in the expression and/or gating properties of the resulting sodium channels."
20091048
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"Our study supports the concept that febrile illness predisposes individuals who carry a loss of function SCN5A mutation, such as V1340I, to fever induced ventricular arrhythmias in BrS by significantly reducing the sodium currents in the hyperthermic state."
19648062
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"The T1620M SCN5A mutant was shown to recover more rapidly than wild-type channels [13], in contradistinction to SCN5A mutations responsible for LQT3, which typically cause a persistent noninactivating[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
12051963