IndraLab

Statements

Mutated KCNH2 activates Kr. 5 / 5
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"As hERG underpins the rapid delayed rectifier channel current (I Kr) XREF_BIBR, the N588K ' gain-of-function ' hERG mutation is anticipated to increase greatly the contribution of I Kr to cardiac repolarization in SQT1 patients, thereby accounting for QT interval abbreviation XREF_BIBR, XREF_BIBR - XREF_BIBR."
22194679
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"The SQTS– KCNH2 mutation induces remarkable alteration of I Kr kinetic with a loss of channel rectification at depolarized potentials."
16168489
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"Various hERG mutations, including missense, no-sense, and splicing mutations, have been identified and demonstrated to decrease or completely attenuation of I Kr ( Yang et al., 1996 )."
27575519
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"Loss-of-function (LOF) KCNH2 mutations decrease I Kr in type 2 LQTS (LQT2) XREF_BIBR, XREF_BIBR, XREF_BIBR."
27761161
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"Precise genetic modification of the KCNH2 mutation increased the I Kr current conducted by the hERG channel and normalized the APD [XREF_BIBR]."
33255277