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  • 1
    Electronic Resource
    Electronic Resource
    Germinal HPRT splice donor site mutation results in multiple RNA splicing products in T-lymphocyte cultures (1996)
    Springer
    Somatic cell and molecular genetics 22 (1996), S. 145-150 
    Details
    ISSN: 1572-9931
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We have used peripheral blood T-lymphocyte cultures to analyze the hprt mutation in two Lesch-Nyhan syndrome males who are cousins and to confirm the carrier status of female members of the family. Both cDNA and genomic DNA sequencing studies show that this patient carries a hitherto undescribed single base deletion in the exon 5 donor splice site sequence (15:+1, δG, base number 31635). The largest cDNA product contained all nine hprt exons plus an insertion of 66 bases of intron 5, consistent with the use of a cryptic splice site in intron 5 (aag67/gtaagc). This splicing error would result in a chain terminating codon immediately after exon 5 (15:2–4, taa) and predicts a polypeptide of 133 amino acids. This loss of the normal splice donor site also results in multiple hprt mRNA species, combining the use of the cryptic splice site in intron 5 and splicing errors involving exons 2–6. In addition to defining a new Lesch-Nyhan mutation (hprtHenryville), these results provide insight into aberrant splicing of hprt mRNA in T-lymphocytes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02369904
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  • 2
    Electronic Resource
    Electronic Resource
    Assessment of a university's scientific capabilities and profile: The case of the faculty of biological sciences of the Pontificia Universidad Catolica de Chile (1995)
    Springer
    Scientometrics 34 (1995), S. 87-100 
    Details
    ISSN: 1588-2861
    Source: Springer Online Journal Archives 1860-2000
    Topics: Information Science and Librarianship , Nature of Science, Research, Systems of Higher Education, Museum Science
    Notes: Abstract The scientific capabilities and performance profiles of the Faculty of Biological Sciences of the Pontificia Universidad Católica de Chile were assessed building performance indicators from the ISI's Chile-National Citation Report, 1981–1992. Consistent with the educational goals of the Faculty, the scientific activity which nurtures graduate training, especially at the doctoral level, was examined field by field and compared to Chilean and World scores. The approach rendered a portrait of the Faculty which depicts, trends, strengths and weaknesses, and standards for the evaluation of future activity. The study shows a very competitive performance in most of the fields, relative to national and world average achievements. A remarkable finding was the outstanding performance in applied fields, such as medical and agricultural sciences, and also in biotechnology, with shows that when good basic science takes place, high level goal oriented research also occurs.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02019175
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Proteoglycan alterations in skin fibroblast cultures from patients affected with pseudoxanthoma elasticum (1996)
    New York, NY [u.a.] : Wiley-Blackwell
    Cell Biochemistry and Function 14 (1996), S. 111-120 
    Details
    ISSN: 0263-6484
    Keywords: proteoglycans ; Pseudoxanthoma elasticum ; fibroblasts ; skin ; Life Sciences ; Molecular Cell Biology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Medicine
    Notes: Proteoglycans (PGs) were investigated in fibroblast cultures from both apparently normal and involved areas of skin from two patients affected with Pseudoxanthoma elasticum (PXE) and compared to control normal cells. Biochemical analysis showed that cells from the PXE-affected patients produced a PG population with stronger polyanion properties, as well as a markedly increased amount of high hydrodynamic-size PGs. Moreover, PGs from PXE-affected cells showed abnormal hydrophobic interaction properties when examined under associative conditions and included heparan sulphate (HS)-containing populations with anomalous electrophoretic mobility. These phenomena were particularly evident in the case of PGs secreted into the growth medium. In agreement with these findings immunohistochemical study showed alterations affecting decorin and biglycan, as well as a different content and distribution of HS-PGs in PXE-affected cells. The same biochemical and morphological alterations were confirmed for both patients on different cell cultures and were present in cells from both apparently normal and affected skin areas, being more pronounced in the latter. Our results indicate that PXE-affected fibroblasts in culture exhibit an abnormal PG metabolism, which could affect the normal assembly of extracellular matrix.
    Additional Material: 6 Ill.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/cbf.653
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    Paper (German National Licenses)
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