IndraLab

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KCNH2 activates LQT2. 22 / 22
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"Mutations in HERG on chromosome 7q35-36, encoding potassium channels (Ikr), cause LQT2, and block of Ikr is a known mechanism for drug induced prolongation of cardiac action potentials, which provides a mechanistic link between LQT2 and certain forms of acquired LQT."
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"We identified a novel BP mutation in KCNH2 that disrupts the intron 9 acceptor splice site definition and causes LQT2."
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"The stability of the mutant was partially restored by HSF-1, indicating that HSF-1 is a target for the treatment for LQT2 caused by the A78T mutation in HERG."
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"LQT2 is caused by mutations in the hERG gene, most of which are missense mutations resulting in a single amino acid change."
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"Its stability was partially restored by HSF-1, indicating that HSF-1 is a potential target for the treatment for LQT2 caused by the A78T mutation in HERG."
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"LQT1, LQT2, and LQT3 are caused by mutations in KCNQ1 (LQT1), KCNH2 (LQT2), and SCN5A (LQT3), which account for approximately 90% of genotyped LQTS patients."
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"The majority of hERG trafficking studies target LQT2 clinically relevant missense mutations and PAS truncations XREF_BIBR."
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"However, mutations in three genes (KCNQ1 mediated LQT1, KCNH2 mediated LQT2, and SCN5A mediated LQT3) account for 75% of clinically definite LQTS."
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"Several reports described mutations in the C-terminus region exhibiting a loss of function in the HERG channel to cause LQT2 [8-12]."
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"Among them most common are LQT1, LQT2, and LQT3, caused by mutations in KCNQ1, KCNH2, and SCN5A genes, respectively (Splawski etal."
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"According to the on-line inherited arrhythmias database (http://www.fsm.it/cardmoc/), 291 different mutations in hERG1 were reported to cause LQT2 as of September 2009."
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"Defects in KCNQ and hERG channels have been shown to cause LQT1 and LQT2, respectively and cardiac arrhythmias in humans."
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"Mutations in hERG channel can cause LQT2 and several disease related mutations have been identified in the CNBHD."
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"Mutations in hERG cause the congenital form of long QT syndrome type 2 (LQT2), an inherited autosomal dominant disorder characterized by prolonged QT interval on the electrocardiogram."
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"Its stability was partially restored by HSF-1, indicating that HSF-1 is a target for the treatment for LQT2 caused by the A78T mutation in HERG."
27761169
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"LQT1 and LQT2 are caused by missense mutations of the KCNH1 and KCNH2 gene, respectively."
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"Failure of HERG trafficking is known to cause LQT2, and this identified a molecular mechanism underlying this defect."
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"LQT1 and LQT2 are caused by gene mutations in KCNQ1 and KCNH2, respectively, and mutations in these 2 genes are responsible for about 85% of LQTS linked mutations."
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"LQT2 is caused by mutations in the KCNH2 (also known as human Ether-a-go-go Related Gene; HERG) gene, which forms the alpha-subunit of the rapid acting inward rectifying potassium (I kr) channel."
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"LQT2, caused by genetic variants in KCNH2 encoding the pore forming alpha-subunit K V 11.1 of the voltage gated potassium channel responsible for the inward rectifying potassium current I Kr 20, accounts for ~ 25-40% of cases."
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"[XREF_BIBR] A total of 16 genes associate with LQTS, and mutations in KCNQ1 or KCNH2 genes cause the most common subtypes LQT1 and LQT2, respectively."
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"XREF_BIBR In addition, a wide variety of potentially dangerous proarrhythmic effects of antiarrhythmic or nonantiarrhythmic drugs have been recognized to inhibit hERG channels, which could induce acquired LQT2."
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