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  • 1995-1999  (2)
  • Automated sequencing  (1)
  • Peripheral myelin genes  (1)
  • 1
    Electronic Resource
    Electronic Resource
    Molecular genetics and biology of inherited peripheral neuropathies: a fast-moving field (1999)
    Springer
    Neurogenetics 2 (1999), S. 137-148 
    Details
    ISSN: 1364-6753
    Keywords: Key words Charcot-Marie-Tooth disease ; Hereditary motor and sensory neuropathy ; Hereditary neuropathy with liability to pressure palsies ; Peripheral myelin genes ; Molecular genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: ABSTRACT The recent progress of molecular genetics has considerably increased our knowledge about the underlying disease mechanism of inherited peripheral neuropathies. Mutations in three genes coding for the myelin proteins peripheral myelin protein 22, myelin protein zero and connexin 32 and in one gene coding for the transcription factor early growth response 2 element are associated with Charcot-Marie-Tooth type 1 and 2, hereditary neuropathy with liability to pressure palsies, Dejerine-Sottas syndrome and congenital hypomyelination. This review focuses on the correlation of the different human phenotypes associated with distinct mutations with those found in cellular and animal models.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100480050074
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Immunoreactivity for p53 and mdm2 and the detection of p53 mutations in human malignant mesothelioma (1995)
    Springer
    Virchows Archiv 427 (1995), S. 431-436 
    Details
    ISSN: 1432-2307
    Keywords: Malignant mesothelioma ; p53 ; mdm2 ; Automated sequencing
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Previous immunohistochemical studies on malignant mesothelioma with antibodies recognizing both the wild and the mutant types of the p53 protein have shown immunoreactivity in 25–70% of cases. This study was designed to determine whether there is immunoreactivity for p53 and mdm2 protein in malignant mesothelioma and to correlate p53 expression with the detection of mutations in p53 at DNA level. In 10 of 15 cases there was immunoreactivity for p53. In 6 of these cases immunoreactivity for mdm2 was also detected. In one p53-immunonegative case, a mutation of the p53 gene resulting in a stop codon was found. These results suggest that mdm2 might be involved in the inhibition of p53 in malignant mesothelioma. Also, these data suggest the existence of other proteins than mdm2 that may associate with p53.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00199393
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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