Selected article for: "frame shift and small molecule"

Author: Zheng, Yueming; Zhu, Xuejing; Zhou, Pingzheng; Lan, Xi; Xu, Haiyan; Li, Min; Gao, Zhaobing
Title: Hexachlorophene Is a Potent KCNQ1/KCNE1 Potassium Channel Activator Which Rescues LQTs Mutants
  • Document date: 2012_12_12
  • ID: 1manzf3l_2
    Snippet: Loss-of-function mutations in KCNQ1 lead to long QT syndrome (LQTs), a severe arrhythmia characterized by an abnormality in cardiac repolarization leading to prolonged QT interval [4] [5] [6] . The severity of LQTs varies from syncope to sudden death. LQTs can be either congenital or acquired. More than 50% congenital LQTs cases and 90% LQTs occurring during exercise are linked to mutations in the KCNQ1 gene. Genetic studies of LQT patients have .....
    Document: Loss-of-function mutations in KCNQ1 lead to long QT syndrome (LQTs), a severe arrhythmia characterized by an abnormality in cardiac repolarization leading to prolonged QT interval [4] [5] [6] . The severity of LQTs varies from syncope to sudden death. LQTs can be either congenital or acquired. More than 50% congenital LQTs cases and 90% LQTs occurring during exercise are linked to mutations in the KCNQ1 gene. Genetic studies of LQT patients have identified at least 113 KCNQ1 mutations, including missense (86/113), nonsense (6/ 113), deletion (13/113), frame shift (1/113) and splice (7/113) mutations [7] . Potentiation of the KCNQ1 channel by small molecule activators is thought to be a potential and attractive strategy to treat LQTs.

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