Article
Dominant-negative control of cAMP-dependent IKs upregulation in human long-QT syndrome type 1.
Circulation research - 20 Jan 2012
Heijman Jordi, Spätjens Roel L H M G, Seyen Sandrine R M, Lentink Viola, Kuijpers Helma J H, Boulet Inge R, de Windt Leon J, David Miren, Volders Paul G A
Abstract excerpt
RATIONALE: The mutation A341V in the S6 transmembrane segment of KCNQ1, the α-subunit of the slowly activating delayed-rectifier K(+) (I(Ks)) channel, predisposes to a severe long-QT1 syndrome with sympathetic-triggered ventricular tachyarrhythmias and sudden cardiac death. OBJECTIVE: Several genetic risk modifiers have been identified in A341V patients, but the molecular mechanisms underlying the pronounced...
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