LQT1-phenotypes in hiPSC: Are we measuring the right thing?
نویسندگان
چکیده
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Long QT syndrome (LQTS) is characterized by a prolonged QT-interval on electrocardiogram and by increased risk of sudden death. One of the most common and potentially life-threatening electrolyte disturbances is hypokalemia, characterized by low concentrations of K+ Using a multielectrode array platform and current clamp technique, we investigated the effect of low extracellular K+ concentratio...
متن کاملReply to Christ et al.: LQT1 and JLNS phenotypes in hiPSC-derived cardiomyocytes are due to KCNQ1 mutations.
In their letter on our recent publication on modeling Jervell and Lange-Nielsen syndrome (JLNS) using human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) (1), Christ et al. question: (i) the role of the delayed rectifier potassium current (IKs) under baseline conditions in the absence of sympathetic stimulation, (ii) the rapid activation kinetics of IKs, and (iii) the causali...
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BACKGROUND Previous studies of long QT syndrome (LQTS) have revealed the presence of country-specific hot spots in KCNQ1 mutations, and the purpose of this study was to evaluate the influence of a common mutation on clinical phenotypes in Japanese LQT1 patients. METHODSANDRESULTS We retrospectively studied the frequency of each mutation in 190 LQT1 Japanese probands and evaluated the clinical...
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Recessive mutations in the ion channel-encoding KCNQ1 gene may cause Jervell and Lange-Nielsen syndrome (JLNS), a fatal cardiac disease leading to arrhythmia and sudden cardiac death in young patients. Mutations in KCNQ1 may also cause a milder and dominantly inherited form of the disease, long QT syndrome 1 (LQT1). However, why some mutations cause LQT1 and others cause JLNS can often not be u...
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عنوان ژورنال:
- Proceedings of the National Academy of Sciences of the United States of America
دوره 112 16 شماره
صفحات -
تاریخ انتشار 2015