IndraLab

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KCNH2 activates LQTS2. 8 / 8
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"Such an approach has been extensively used in studies of loss-of-function disease-causing variants in KCNH2 that cause LQTS2 ."
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"Long QT syndrome 2 (LQTS2) caused by missense mutations in hERG channel is clinically associated with abnormally prolonged ventricular repolarization and sudden cardiac deaths."
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"However, most pathogenic variants are still identified in the three first described genes : KCNQ1, KCNH2, and SCN5A [XREF_BIBR, XREF_BIBR], causing LQTS1, LQTS2, and LQTS3, respectively."
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"Therefore, the effects of dextromethorphan on the dysfunction of other affected organs remain to be investigated.In conclusion, although the role of SIGMAR1 has emerged in various diseases including neurological disorders and cancer and more recently cardiovascular diseases and COVID-19 , our findings demonstrate that SIGMAR1 could be a therapeutic target for TS and potentially LQTS1 and LQTS2 caused by the G269S mutation in K 7.1 channel and the A561V mutation in hERG channel, respectively."
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"Our results demonstrated that SIGMAR1 activation could be beneficial for not only TS but also LQTS1 and LQTS2, which are caused by the G269S mutation in K 7.1 channel and the A561V mutation in hERG channel, respectively."
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"LQTS2 is caused by mutations in KCNH2, a gene whose protein product contributes to I Kr (also known as HERG), which is the predominant repolarizing potassium current in CMs."
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"LQTS2 is caused by mutations in the KCNH2 gene, encoding the alpha subunit of the human ether-A -go-go - related gene (hERG) potassium channel underlying the rapidly activating delayed rectifier K + c[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
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"Mutations in KCNQ1 and HERG cause the congenital LQTS1 XREF_BIBR and LQTS2, XREF_BIBR respectively."
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