IndraLab

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KCNQ1 activates PSMD4. 6 / 6
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"For example, mutations in the potassium channel gene KCNQ1, the first gene linked to familial AF, are thought to cause AF by reducing the atrial action potential duration and the effective refractory period."
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"Although rare, mutations in KCNQ1 also can cause familial AF."
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"R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation."
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"In 2005, Hong et al XREF_BIBR identified a missense mutation (p.V141M) in the KCNQ1 gene, which causes AF and shortens the QT interval by altering the gating of IKs channels -- to our knowledge, the only pathogenic mutation associated with this rare entity, so far."
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"A more recent study revealed that lncRNA KCNQ1 overlapping transcript1 (KCNQ1OT1) is upregulated in Ang-II-induced AF mice hearts and promotes Ang-II-induced AF by acting as a sponge for miR-384b to facilitate CACNA1C expression."
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"A second gain-of-function mutation in the KCNQ1 gene has since been found to cause AF in a child before birth, and in this case occurred along with the expected shortening of the QT interval [XREF_BIBR]."
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