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  • 1
    Electronic Resource
    Electronic Resource
    Is Restoration of Intracellular Trafficking Clinically Feasible in the Long QT Syndrome?: (2003)
    350 Main Street , Malden , MA 02148 , USA , and 9600 Garsington Road , Oxford OX4 2DQ , UK . : Blackwell Science Inc
    Journal of cardiovascular electrophysiology 14 (2003), S. 0 
    Details
    ISSN: 1540-8167
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1540-8167.2003.02363.x
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  • 2
    Electronic Resource
    Electronic Resource
    Variable Expression of Long QT Syndrome Among Gene Carriers from Families with Five Different HERG Mutations (2001)
    Oxford, UK : Blackwell Publishing Ltd
    Annals of noninvasive electrocardiology 7 (2001), S. 0 
    Details
    ISSN: 1542-474X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Objectives: This study assessed the phenotypic variability of LQTS in carriers with the same and with different mutations in the LQT2 gene.Background: Mutations of ion-channel genes are known to cause the long QT syndrome (LQTS), a disorder associated with distinctive genotypic-specific electrocardiographic patterns and variable clinical expression.Methods: Clinical and electrocardiographic characteristics were assessed in five large LQTS families, each with a different mutation of the HERG gene (LQT2; n = 469, 69% genotyped, 102 carriers). One mutation was located on the N-terminus and the other four on the C-terminus of the HERG channel protein.Results: The QTc duration and the frequency of cardiac events (syncope and LQTS-related cardiac arrest/deatht were similar among carriers with the five HERG mutations. QTc was as variable in carriers of the same mutation as it was among carriers with different HERG mutations (P = 0.19). Qualitative assessment of the electrocardiograms revealed extensive intra-and interfamilial variability in T-vvave morphology. Among carriers with multiple electrocardiograms extending over 2 to 7 years, variation in QTc over time was minimal. A strong association was found between QTc and the occurrence of cardiac events in carriers of all five mutations.Conclusions: The clinical expression of LQTS was equally variable in carriers from families with the same or different HERG mutations. These findings highlight the complexity of the clinical phenotype in this Mendelian dominant disorder and suggest that one or more modifier genes contribute to the variable expression of this syndrome. A.N.E. 2002;7(1):40–46
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1542-474X.2001.tb00137.x
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  • 3
    Electronic Resource
    Electronic Resource
    Age-dependent Variations in Potassium Sensitivity of A-Currents in Rat Hippocampal Neurons (1997)
    Oxford, UK : Blackwell Publishing Ltd
    European journal of neuroscience 9 (1997), S. 0 
    Details
    ISSN: 1460-9568
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Hippocampal pyramidal neurons were either cultured from prenatal rats or acutely isolated from the brain of newborn and juvenile rats. The influence of lowering the concentration of the extracellular potassium concentration ([K+]0) on isolated fast transient outward K+ currents (IA) was studied in these neurons using the patch clamp technique in the whole cell configuration. With respect to the response of IA to lowering [K+]0, three types of cells were observed. The first subpopulation of neurons was characterized by a complete suppression of IA over the whole voltage range under potassium-free solutions (type A neurons). A second proportion of cells showed an increase of IA at test pulses below -0 mV and a decrease of IA at voltages above -0 mV (type B neurons). In a third group of neurons, amplitudes of lA increased at all potentials tested during omission of potassium ions from the extracellular superfusate (type C neurons). Whereas type A and type B neurons were preferentially found in freshly plated cultures and newborn rats, the majority of type C cells was detected in long-term cultures and in animals of older ages. Thus, hippocampal A-currents lose their sensitivity to extracellular potassium ions during early ontogenesis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1460-9568.1997.tb00764.x
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  • 4
    Electronic Resource
    Electronic Resource
    Gating of inwardly rectifying K + channels localized to a single negatively charged residue (1994)
    [s.l.] : Nature Publishing Group
    Nature 371 (1994), S. 246-249 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Currents from IRK1 increase over several milliseconds to a steady level on hyperpolarization whereas ROMK1 currents show no comparable time dependence (Fig. 1). To localize the structural domains responsible for gating, we constructed chim-aeras between IRK1 and ROMK1 channels. ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/371246a0
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    Paper (German National Licenses)
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