IndraLab

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SCN5A inhibits sodium atom. 24 / 24
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"As expected, Scn5a +/- hearts had significantly reduced Na v 1.5 expression, but there was a further difference between LV and RV, with approximately 30 per cent reduction in the LV and approximately 50 per cent reduction in the RV when compared with WT, resulting in a significantly lower expression of Na v 1.5 in the RV compared with the LV of Scn5a +/- hearts."
22773948
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"Mutations in SCN5A can disrupt proper function of Na V 1.5 and as such lead to different, mainly cardiac, diseases."
26361848
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"115 In a subsequent study, co-expression of mutant SCN1B with WT-SCN5A and WT-KCND3 (separately) induced a 55.6% decrease in peak I Na and 70.6% gain of function in I to, moreover, co-immunoprecipitation revealed structural association between Na V beta1B, Na V 1.5 and K V 4.3, suggesting that the elevated level of transient outward potassium current is predominantly responsible for pathogenesis in these cases of BrS."
26671757
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"Co-expression of SCN5A-E1784K and SCN5A-WT reduced I Na, P to 70.03% of WT, shifted steady-state inactivation by -11.03 mV, and increased I Na, L from 0.14% to 1.86% of I Na, P."
27381756
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"Na v 1.5 transcripts were similarly down-regulated by almost 50% in Scn5a +/- mice with both mild and severe phenotype, showing that the phenotype heterogeneity was not due to differential transcription of the WT Scn5a allele."
20174578
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"Many of the SCN5A variants associated with DCM reduce I Na density or exhibit rate dependent reductions of Na + current (12,24-26)."
22999724
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"It is well established that mutations in SCN5A, the a-subunit of the cardiac Na + channel, reduce the magnitude of the cardiac Na + current by a variety of mechanisms [XREF_BIBR] and are linked to the development BrS [XREF_BIBR]."
19358333
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"Patch clamp analyses of Scn5a +/- SA node cells demonstrated similar steady-state activation and inactivation properties but reduced maximum Na + currents (~ 30%) compared to WT."
22783200
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"In addition, a common polymorphism (H558R) in SCN5A, present in 20% of the population (20), reduces Na + current density (21)."
18929244
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"Genetic lesions in SCN5A can cause congenital long QT syndrome (LQTS) variant 3 (LQT-3) in adults by disrupting inactivation of the Na v 1.5 channel."
18060054
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"NaV1.5 + beta1D103V decreased sodium current density by 45.7 % compared to NaV1.5 + beta1WT ( Figure 4B ) ."
33134290
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"A human SCN5A BrS variant eliminates Na v 1.5-ankyrin-G interactions."
29740331
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"SCN5A variants associated with BrS reduced I Na, but increased I to."
32709127
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"A1180V, an SCN5A variant, decreased I Na and moderately increased I Na-L."
33391024
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"We considered that F1486del mutation in SCN5A is critical to inactivate Na v 1.5."
19419784
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"Na + channel activity and invasive potential were inhibited pharmacologically by tetrodotoxin or genetically by siRNAs specifically targeting SCN5A."
20651255
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"Mutations in SCN5A leading to LQTS3 produce gain-of-function defects by disrupting Na + channel inactivation, thereby causing a small persistent I Na during the action potential plateau XREF_BIBR XREF_BIBR."
27677334
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"Mutations in SCN5A as well as SCN1B or SCN3B, both encoding auxiliary beta-subunits, all reduced Na + currents."
27242528
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"Irritable bowel syndrome patients have SCN5A channelopathies that lead to decreased Na"
29167113
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"Multiple mutations of genes, SCN5A, SCN1B, SCN3B, GPD1L, CACNA1C, CACNB2, KCNE3 and KCND3, have been shown to decrease cardiac Na + and Ca 2+ channel activity or increase fast transient outward K + channel activity, and they are linked to BrS."
26016905
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"Direct and Indirect Suppression of Scn5a Gene Expression Mediates Cardiac Na"
32046907
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"XREF_BIBR, XREF_BIBR Moreover, a mutation in a single allele of SCN5A mimicking a variant causes an 86% reduction in Na + current, greater than the 50% predicted reduction."
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"RBM25 and LUC7L3 mediated abnormal SCN5A mRNA splicing reduces Na + channel current to a range known to cause sudden cardiac death [XREF_BIBR]."
26981310
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"Mutations in SCN5A are known to reduce Na + current by a variety of mechanisms, leading to the development of BrS."
19358333