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  • Becker's generalized myotonia  (1)
  • Coma  (1)
  • Genetic fine mapping  (1)
  • 1
    ISSN: 1364-6753
    Keywords: Key words Myotonia congenita ; Thomsen's disease ; Becker's generalized myotonia ; Muscle chloride channel ; CLCN-1 gene
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: ABSTRACT Myotonia congenita is an inherited muscle disorder characterized by muscle stiffness and hypertrophy. Its clinical phenotype depends, in part, on whether it is inherited as a dominant or recessive trait, respectively designated Thomsen's disease or Becker's generalized myotonia (BGM). In either case, it is associated with abnormalities in the muscle currents that are linked to the gene (CLCN-1) on human chromosome 7q35 encoding the skeletal muscle chloride channel. Single-strand conformation polymorphism analysis was used to screen two families with the BGM for mutations in the CLCN-1 gene. Two new mutations were found (G 201ins and A317Q). The latter mutation has been previously described in Thomsen's disease.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1364-6753
    Keywords: Key words Miyoshi myopathy ; Genetic fine mapping ; Candidate genes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: ABSTRACT Miyoshi myopathy (MM) is an early adult-onset, autosomal recessive disorder characterized by weakness and muscular atrophy starting in the distal muscles. The disease locus has been previously mapped by linkage analysis to chromsome 2p using the microsatellite marker D2S291. Initial haplotype analysis of markers in families from three different origins (North American, Japanese, and Tunisian) suggested that the MM gene is located in a 4-cM region flanked by markers D2S292 on the telomeric side and D2S286 on the centromeric side. To delineate critical recombination events revealing a more refined localization of the MM gene, we have determined the pattern of segregation of 12 marker loci in two consanguineous families of Tunisian origin. In this study we have: (1) detected recombination events with the disease locus in one family, placing the MM gene most likely between markers D2S443 (CHLC.GGAA4D07.1876) and D2S2109; (2) generated a yeast artificial chromosome contig that spans approximately 3.8 megabases and extends from marker D2S358 to marker D2S286; (3) physically mapped 21 polymorphic markers, 5 genes, 3 STSs, and 1 EST within this contig; (4) detected and mapped a new polymorphism within this interval, allowing us to further reduce the MM locus to a 360-kilobase segment; (5) mapped the gene for the cytoskeletal protein β-adducin within the MM candidate region, failing to find a consistent pattern of mutation of this gene in our MM patients; (6) excluded seven other candidate myopathy genes from the Miyoshi locus.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1573-0794
    Keywords: Coma ; comets ; Deep Space 1 ; nucleus ; spacecraft exploration
    Source: Springer Online Journal Archives 1860-2000
    Topics: Geosciences , Physics
    Notes: Abstract NASA's Deep Space 1 (DS1) spacecraft successfully encountered comet 19P/Borrelly near perihelion and the Miniature Integrated Camera and Spectrometer (MICAS) imaging system onboard DS1 returned the first high-resolution images of a Jupiter-family comet nucleus and surrounding environment. The images span solar phase angles from 88° to 52°, providing stereoscopic coverage of the dust coma and nucleus. Numerous surface features are revealed on the 8-km long nucleus in the highest resolution images(47–58 m pixel). A smooth, broad basin containing brighter regions and mesa-likestructures is present in the central part of the nucleus that seems to be the source ofjet-like dust features seen in the coma. High ridges seen along the jagged terminator lead to rugged terrain on both ends of the nucleus containing dark patches and smaller series of parallel grooves. No evidence of impact craters with diameters larger thanabout 200-m are present, indicating a young and active surface. The nucleus is very dark with albedo variations from 0.007 to 0.035. Short-wavelength, infrared spectra from 1.3 to 2.6 μm revealed a hot, dry surface consistent with less than about10% actively sublimating. Two types of dust features are seen: broad fans and highlycollimated “jets” in the sunward hemisphere that can be traced to the surface. The source region of the main jet feature, which resolved into at least three smaller “jets” near the surface, is consistent with an area around the rotation pole that is constantly illuminated by the sun during the encounter. Within a few nuclear radii, entrained dustis rapidly accelerated and fragmented and geometrical effects caused from extended source regions are present, as evidenced in radial intensity profiles centered on the jet features that show an increase in source strength with increasing cometocentric distance. Asymmetries in the dust from dayside to nightside are pronounced and may show evidence of lateral flow transporting dust to structures observed in the nightside coma. A summary of the initial results of the Deep Space 1 Mission is provided, highlighting the new knowledge that has been gained thus far.
    Type of Medium: Electronic Resource
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