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  • 1
    ISSN: 1432-069X
    Keywords: Epidermodysplasia verruciformis ; Cell-mediated immunity ; Langerhans cells ; Retinoid treatment ; Cytogenetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A case study is presented of a 44-year-old negroid male with epidermodysplasia verruciformis (EV), cutaneous carcinomas, and impaired cell-mediated immunity (CMI), infected with human papillomavirus type 8 and 17. Analysis was made of (a) T6+and HLA-DR+Langerhans cells (LCs) by immunoperoxidase staining in lesional and clinically normal skin before and during retinoid treatment, (b) the effect of retinoid treatment on CMI in vivo and in vitro, and (c) cytogenetic aspects related to chromosomal instability. The results showed the virtual absence of T6+and HLA-DR+LCs in koilocytic areas of epidermis involved with EV. Light-exposed, clinically normal skin also demonstrated microscopic EV lesions largely devoid of T6+and HLA-DR+LCs. Retinoid treatment with etretinate (Ro 10-9359) appeared both to increase the CMI response in vitro to T-cell mitogens and to influence the in situ pattern of T6+and HLA-DR+LCs. The cytogenetic study did not show evidence of spontaneous or UV-induced chromosomal instability.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1076
    Keywords: Ataxia telangiectasia ; Radiosensitivity ; Immunodeficiency ; Flow cytometry ; Cell cycle
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In a retrospective study, peripheral blood mononuclear cells from 13 patients with known ataxia telangiectasia (AT) (Louis Bar syndrome, McKusick #20890) were irradiated with different doses of X-rays prior to stimulation with phytohaemagglutinin. Mitogen response and cell cycle progression were assessed by two-parameter 5-bromo-2′-deoxyuridine/Hoechst — ethidium bromide flow cytometry. Compared to age-matched controls, AT cells show a severely defective mitogen response in both unirradiated and irradiated cells. Following irradiation with 1.5 Gy, AT cells exhibit significantly greater accumulations of cells in the G2 phase of the first cell cycle than controls. The ratio between the number of cells accumulated in the first cycle G2 phase and the growth fraction provides a clear distinction between AT and control cultures. In addition, two patients with microcephaly, normal intelligence, immunodeficiency, chromosomal instability and risk for lymphoreticular malignancies (Seemanová syndrome) and two patients with the Nijmegen breakage syndrome (both syndromes are listed as McKusick #25126) also exhibit very poor mitogen response and moderately increased G2 phase accumulations after X-irradiation. The simultaneous assessment of radiosensitivity and mitogen response in a single cell kinetic assay provides a speedy and accurate classification of cells of AT and AT-related syndromes.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 67 (1984), S. 351-351 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-119X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary An X chromosome specific nucleic acid probe was used to study the positions of the X chromosomes in leukocyte nuclei by in situ hybridization to smears of peripheral blood. This autoradiographic approach allowed the first direct demonstration of the presence of X chromosomal material in the drumstick-like structures of female polymorphonuclear leukocytes.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 31 (1976), S. 293-307 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A technique is described for staining centromeric areas and reverse, mainly telomeric bands in human chromosomes. With this “CT” technique karyotyping of C-banded metaphases is possible without previous or subsequent use of other banding methods. The method consists of an alkaline pretreatment at 60°C with Ba(OH)2, followed by salt incubation in 2 x SSC at 60°C and staining with the cationic dye “Stains-all”. In a series of experiments the influence of the variables in the procedure was studied, with thefollowing main results: 1) Ba(OH)2 treatment alone and subsequent staining produces a distinct reverse banding pattern in which the secondary constriction of chromosome 9 is positive. 2) The 2 x SSC incubation in the CT procedure causes the Ba(OH)2 induced reverse bands to become weaker; the centromeric regions, however, become very prominent. 3) If the temperature of the 2 x SSC treatment is raised to 85°C, the CT technique results in a specific staining of the short arm regions of some probably variant acrocentric chromosomes. The interphase nuclei of individuals possessing such acrocentrics usually show very distinct chromocentres after this treatment; in the polymorphs these chromocentres are often situated along the nuclear membrane. The mechanisms which may form the basis of the staining results obtained, and the possible significance in human cytogenetics of the techniques described, are discussed briefly.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 33 (1976), S. 167-174 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary This paper decribes a study of the role of certain cations in the alkaline pretreatment step used in the CT technique for chromosome band formation. Treatment of human chromosomes with ammonium bases or with the hydroxides of the monovalent alkali metals Na, K, or Li resulted in their rapid disintegration, unless very short treatment periods or diluted solutions were used. In the latter cases a subsequent staining produced a weak G-banding pattern. The chromosomes appeared to be much less sensitive to treatment with the hydroxides of the divalent alkaline earch metals Ba, Sr, Ca, and Mg. Staining after exposure to these hydroxides yielded R-banding patterns. The reduced alkali sensitivity of the chromosomes and the reverse banding pattern formation observed are probably the result of a chromatin stabilization by the divalent cations of the alkaline earth metals. It is proposed that not only in the R-band formation with the hydroxides of the alkaline earth metals but also in that obtained by other techniques, chromosome stabilization plays an important role.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Lymphocyte cultures from man, gorilla, and chimpanzee were treated with 5-azacytidine and 5-azadeoxycytidine. These cytidine analogues induce common fragile sites in the chromosome bands 1q42 and 19q13 of man. A rare fragile site is induced by 5-azadeoxycytidine in the band 1q24. The optimum conditions required for inducing these new fragile sites were determined by a series of experiments. The common fragile site in human chromosome 1q42 also exists in the gorilla and chimpanzee in the homologous band 1q32. The fragile site in human chromosome 19q13 was demonstrated in the gorilla in the homologous chromosome band 20q13. These are the first examples found of evolutionary highly conserved fragile sites in homologous chromosome bands in related primate species. The interaction between 5-azacytidine, 5-azadeoxycytidine, and chromosomal DNA; the evolutionary conservation of genes located within or closely adjacent to the fragile sites in the chromosome 1 of Hominoidea; and the phylogenetic origin of the two new common fragile sites are discussed.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 72 (1986), S. 215-220 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary In man a common fragile site is known to occur at 3p14. We studied the expression of this fragility in a group of 70 normal healthy subjects. Chromosome breaks, chromatid breaks and gaps at 3p14 could be observed in every examined individual, and in a total of 7000 metaphases they were seen in a mean of 4% of cells. Fluorescence studies in ten persons with chromosome No. 3 polymorphism showed that in all cases both Nos. 3 were about equally liable to breakage. A considerable variation in the fra 3p14 expression was found between individuals as well as in repeated cultures from the same person. Neither sex nor age influences could be detected. Cultures with a high percentage of lesions at 3p14 tended to have also a high number of lesions at other sites. Methotrexate and fluorodeoxyuridine markedly enhanced the expression of fra 3p14 and other fragilities. It is concluded that the chromosomal region at 3p14 represents man's most common fragile site, the expression of which seems to be influenced by environmental and heritable factors.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Histochemistry and cell biology 52 (1977), S. 349-353 
    ISSN: 1432-119X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A method is described for the staining of distinct R- and CT-banding patterns in human chromosomes with the aid of the triphenylmethane dye basic fuchsin. The results obtained illustrate the applicability of this dye in diagnostic as well as in more fundamental cytogenetic studies.
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 53 (1980), S. 255-259 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The morphologic changes occurring in human chromosomes during R-banding by Ba(OH)2 treatment were followed with the aid of bright-field and Nomarski interference contrast microscopy. It was found that the hot Ba(OH)2 pretreatment alone, i.e., without staining, caused a pattern of transverse ridges in the chromosomes that clearly corresponded to positive R-band regions. No chromosomal collapse could be seen during any stage of the R-banding procedure. Thus these events contrast with those observed in G-band formation with trypsin, where complete chromosomal collapse occurs after pretreatment and where staining is necessary to induce G-band ridges. The possible mechanism of R-band induction by Ba(OH)2 is discussed. It is proposed that the R-band ridges arise as a result of chromatin loss from the interband regions during the hot alkaline pretreatment.
    Type of Medium: Electronic Resource
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