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  • 1
    Electronic Resource
    Electronic Resource
    The SH2D2A gene encoding the T-cell-specific adapter protein (TSAd) is localized centromeric to the CD1 gene cluster on human Chromosome 1 (2000)
    Springer
    Immunogenetics 51 (2000), S. 179-185 
    Details
    ISSN: 1432-1211
    Keywords: Key words Adapter protein ; SH2D2A gene ; Alternative splicing ; Single-nucleotide polymorphism ; Linkage analysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract  The SH2D2A gene encoding the T-cell-specific adapter protein (TSAd), was isolated from a human Chromosome (Chr) 1 cosmid library (LLNL, UK HGMP). The gene spans 11 kilobases and contains nine exons and eight introns. Four alternative transcript variants were observed in activated T cells. Three single-nucleotide polymorphisms were identified within intron 2. A variable number of GA repeats was found at position –340 from the first coding ATG. Linkage analysis using this marker in eight CEPH families showed that the SH2D2A gene is located close to the D1S2624 marker on Chr 1q21–1q22. Physical mapping of a PAC and BAC contig containing the CD1 gene cluster telomeric to D1S2624 failed to identify a clone harboring the SH2D2A gene. Thus the SH2D2A gene is located centromeric to the CD1 gene cluster on Chr 1.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002510050029
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  • 2
    Electronic Resource
    Electronic Resource
    Histopathological findings of X-linked retinoschisis with neovascular glaucoma (2000)
    Springer
    Graefe's archive for clinical and experimental ophthalmology 238 (2000), S. 1-7 
    Details
    ISSN: 1435-702X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  · Background: X-linked retinoschisis (XLRS) is rarely complicated by neovascular glaucoma. Only a few reports of XLRS histopathological findings with neovascular glaucoma have been published. · Methods: A 41-year-old man with XLRS complicated by neovascular glaucoma in his left eye was examined with electroretinography, B-scan, ultrasound biomicroscopy and computed tomography. He was examined by ophthalmoscopy and fluorescein angiography in the other eye. An enucleation was performed in his left eye due to uncontrollable high intraocular pressure and persistent ocular pain. We examined the enucleated eye histopathologically. · Results: Examination of the enucleated eye showed nuclear sclerosis of the lens, pigmented retrolental membrane and retinoschisis which separated the inner layer of the retina and made a large space in the vitreous cavity without any apparent detachment of the outer layers of the retina. Sclerotic vessels were present histopathologically in both the inner and outer layers of the retina. There was a peripheral anterior synechia, ectropion uveae and a fibrovascular membrane, which contained many lumina of neovascularization, indicating marked rubeosis iridis. Small cystic spaces were observed in both the schitic retina in the peripheral region and the foveal schisis at the outer layer of the retina. The photoreceptor cells had become markedly atrophied and multiple regions of calcification were observed. The optic nerve showed severe atrophy with gliosis, but the central retinal artery and vein were still open within the nerve. · Conclusions: These histopathological findings suggest that rubeosis iridis may have developed secondarily to retinal ischemia due to occlusion of the retinal blood vessels.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004170050001
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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