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  • 1
    Digitale Medien
    Digitale Medien
    Oxford, UK : Blackwell Publishing Ltd
    Journal of cardiovascular electrophysiology 9 (1998), S. 0 
    ISSN: 1540-8167
    Quelle: Blackwell Publishing Journal Backfiles 1879-2005
    Thema: Medizin
    Notizen: KVLQT1 Gene Mutation and LQTS. Introduction: Inherited long QT syndrome (LQTS) recently has been associated with mutations in genes coding for potassium (KVLQTI, KCNEI, and HERG) or sodium (SCN5A) ion channels involved in regulating either sodium inward or potassium outward currents of heart cells, resulting in prolongation of the repolarization period. We describe a new mutation, a-1 donor splice site mutation in a kindred with two affected members (QTc = 0.61 and 0.54 sec). Methods and Results: Single stranded conformation polymorphism (SSCP) analyses were performed on DNA fragments amplified by polymerase chain reaction from DNA extracted from whole blood. Aberrant conformers were analyzed by DNA sequencing. SSCP analysis of the KVLQTI gene revealed an aberrant conformer in the affected family members. DNA sequencing confirmed the presence of a G→A change in the last nucleotide of codon 344. This mutation does not cause an amino acid change, but a change of the splice site characteristics at the 3’end of exon 6. The mutation may affect, through deficient splicing, the putative sixth transmembrane segment of the K+ channel, and this type of mutation has not previously been described in KVLQTI. Conclusion: The clinical course of LQTS in the affected family members, in whom no deaths occurred despite 20 to 30 syncopes, can he explained by the ability of the cellular machinery to perform partial correct splicing in the mutant allele. This type of mutation may be misinterpreted as a normal variant, since it is a point mutation causing neither an amino acid change nor the introduction of a stop codon.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 2
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Abstract. Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive syndrome characterised by profound congenital sensorineural deafness and prolongation of the QT interval on the electrocardiogram, representing abnormal ventricular repolarisation. In a study of ten British and Norwegian families with JLNS, we have identified all of the mutations in the KCNQ1 gene, including two that are novel. Of the nine mutations identified in this group of 10 families, five are nonsense or frameshift mutations. Truncation of the protein proximal to the recently identified C-terminal assembly domain is expected to preclude assembly of KCNQ1 monomers into tetramers and explains the recessive inheritance of JLNS. However, study of a frameshift mutation, with a dominant effect phenotypically, suggests the presence of another assembly domain nearer to the N-terminus.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 3
    Digitale Medien
    Digitale Medien
    Springer
    International journal of parallel programming 17 (1988), S. 43-58 
    ISSN: 1573-7640
    Schlagwort(e): Computer graphics ; fractals ; stochastic models ; parallel rendering ; ray tracing ; MIMD
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Informatik
    Notizen: Abstract Fractal surfaces are a sueful modeling technique for terrain in computer graphics. Although an algorithm exists for ray tracing (Mandelbrot) fractal surfaces, the technique is computationally very expensive. The large degree of parallelism inherent in the problem suggests the use of parallel architectures for generating these images. We describe a parallel rendering algorithm for shared memory MIMD machines which takes advantage of image coherence to reduce computation. This algorithm has, on a Sequent Balance 2100 with 20 processors, demonstrated a near-linear speedup. We examine the possible synchronization bottlenecks by statically assigning different numbers of CPUs to sections of the screen.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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