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  • 1980-1984  (7)
  • 1970-1974  (5)
  • 1
    Electronic Resource
    Electronic Resource
    Evidence for Linkage between Human Loci for 6-Phosphogluconate Dehydrogenase and Phosphoglucomutase 1 in Man–Chinese Hamster Somatic Cell Hybrids (1972)
    [s.l.] : Nature Publishing Group
    Nature 236 (1972), S. 30-32 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Fig. 1 Linkage relationships between five well known human autosomal enzyme markers segregating in man-Chinese hamster somatic cell hybrids. The data presented in Table 1 have been broken down according to 2 x 2 format following the general methodology suggested by Ruddle et al.10 and tabulated in ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/236030a0
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Claim that two human linkage groups carry different loci for GPT and LDH withdrawn (1974)
    [s.l.] : Nature Publishing Group
    Nature 249 (1974), S. 279-280 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] In a later series of experiments involving further characterisation of the GPT isozymes in the hybrids and their parental cells, we have found strong evidence that the screening procedures used do not score different enzymes (GPT and LDH) but the same gene product (LDH) by different methods. The ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/249279a0
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  • 3
    Electronic Resource
    Electronic Resource
    Basic defect in the expression of adenosine deaminase in ADA- SCID disease investigated through the cells of an obligate heterozygote (1981)
    Springer
    Human genetics 〈Berlin〉 56 (1981), S. 379-386 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The nature of the defect of a female baby who died of severe combined immunodeficiency (SCID) disease associated with adenosine deaminase deficiency (ADA-) was investigated. Since tissue or tissue culture material was not available for subsequent studies, the expression of ADA in her cells was investigated in the somatic cell hybrid clones derived from a fusion between the lymphocytes from one of her two obligate heterozygote parents and thymidine kinase deficient Chinese hamster (a3) fibroblasts. The results of analyses of the human chromosomes and biochemical markers in 12 independent clones and 27 subclones indicated that the ADA deficiency in the patient is determined probably by a mutation in the structural gene for ADA in chromosome 20 leading either to the production of catalytically defective molecules or to the cessation of the production of ADA. Incidentally, the involvement of chromosome 2, which carries a gene for adenosine deaminase complexing protein (ADCP), in the causation of ADA deficiency was excluded. The in vitro approach through the cells from an obligate heterozygote described in this paper may have a general application in pursuing studies on other cases of inborn errors of metabolism whenever the material from the affected individuals (i.e., the homozygotes) is not available or not suitable for direct investigations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00274697
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  • 4
    Electronic Resource
    Electronic Resource
    Assignment of adenosine deaminase complexing protein (ADCP) gene(s) to human chromosome 2 in rodent-human somatic cell hybrids (1981)
    Springer
    Human genetics 〈Berlin〉 59 (1981), S. 317-323 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The experiments reported in this paper indicate that the expression of human adenosine deaminase complexing protein (ADCP) in the human-rodent somatic cell hybrids is influenced by the state of confluency of the cells and the background rodent genome. Thus, the complement of the L-cell derived A9 or B82 mouse parent apparently prevents the expression of human ADCP in the interspecific somatic cell hybrids. In the a3, E36, or RAG hybrids the human ADCP expression was not prevented by the rodent genome and was found to be proportional to the degree of confluency of the cell in the culture as in the case of primary human fibroblasts. An analysis of human chromosomes, chromosome specific enzyme markers, and ADCP in a panel of rodent-human somatic cell hybrids optimally maintained and harvested at full confluency has shown that the expression of human ADCP in the mouse (RAG)-human as well as in the hamster (E36 or a3)-human hybrids is determined by a gene(s) in human chromosome 2 and that neither chromosome 6 nor any other of the chromosomes of man carry any gene(s) involved in the formation of human ADCP at least in the Chinese hamster-human hybrids. A series of rodent-human hybrid clones exhibiting a mitotic separation of IDH1 and MDH1 indicated that ADCP is most probably situated between corresponding loci in human chromosome 2.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00295464
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  • 5
    Electronic Resource
    Electronic Resource
    Enzyme electrophoresis on cellulose acetate gel (1974)
    Springer
    Human genetics 〈Berlin〉 25 (1974), S. 189-201 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Techniques are described for the electrophoretic characterization on Cellogel of adenosine deaminase, adenylate kinase, enolase, fumarase, α-galactosidase, glucosephosphate isomerase, glutathione reductase, glutamic-oxaloacetic transaminase, guanylate kinase, hexosaminidase, hypoxanthine-guanine phosphoribosyltransferase, indophenol oxidase, “malic” enzyme, mannosephosphate isomerase, nucleoside phosphorylase, peptidase-A, peptidase-B, peptidase-C, phosphoglucomutase, pyruvate kinase, triosephosphate isomerase, and UDP glucose pyrophosphorylase1 in the man-Chinese hamster somatic cell hybrid systems.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00281426
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  • 6
    Electronic Resource
    Electronic Resource
    Rapid detection of hypoxanthine-guanine phosphoribosyltransferase on cellogel (1974)
    Springer
    Human genetics 〈Berlin〉 22 (1974), S. 75-80 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Eine einfache, rasche und direkte Färbemethode für die Darstellung der Hypoxanthin-Guanin-Phosphoribosyltransferase wird beschrieben. Sie beruht auf der Umwandlung von Inosin-Monophosphat in Hypoxanthin, das dann enzymatisch oxydiert wird. Diese Oxydation ist mit einer Reduktion eines Tetrazoliumsalzes zu blauem Formazan gekoppelt. Die Elektrophorese von HGPRT in Mensch-Chinesischer Hamster-Hybridzellen zeigt ein Muster mit drei Banden, das eine dimere Struktur dieses Enzyms nahelegt.
    Notes: Summary A simple, fast and direct staining method for the detection of hypoxanthineguanine phosphoribosyltransferase is described. It is based on the conversion of inosine monophosphate to hypoxanthine, which is then enzymatically oxidized. This oxidation is coupled to the reduction of a tetrazolium salt to blue formazan. The electrophoretic pattern of HGPRT in man-Chinese hamster hybrid cells shows a three-banded pattern, suggesting a dimeric structure for this enzyme.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00338138
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  • 7
    Electronic Resource
    Electronic Resource
    Basic defect in the expression of adenosine deaminase in ADA -SCID disease (1983)
    Springer
    Human genetics 〈Berlin〉 63 (1983), S. 121-125 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A specific competitive radioimmunoassay (RIA) was employed to quantify human adenosine deaminase molecules produced in human-Chinese hamster somatic cell hybrids. Studies on a set of hybrids in which the normal and aberrant expressions of adenosine deaminase (assigned earlier to human chromosome 20) were segregating, have demonstrated that in the patient with ADA -SCID disease reported by Herbschleb-Voogt et al (1981a), the deficiency of ADA activity was associated with a comparable deficiency of adenosine deaminase specific immuno-crossreacting material (ADA-CRM).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291530
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  • 8
    Electronic Resource
    Electronic Resource
    Mapping SB in relation to HLA and GL01 using cells from first-cousin marriage offspring (1983)
    Springer
    Immunogenetics 18 (1983), S. 503-512 
    Details
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A newly defined leukocyte antigen system, the secondary B-cell (SB) system, was shown to be linked to HLA. The SB marker has been investigated in lymphocyte donors presumed to be genetically homozygous for HLA-A through HLA-D/DR by virtue of descent from a first-cousin marriage and of phenotypic homozygosity for these HLA markers. Of 19 donors, 3 were found to be heterozygous for SB. Studies of the families of these three donors could not distinguish with certainty whether the heterozygosity resulted from SB/DR recombination or from “pseudohomozygosity” for HLA-A through -D/DR by inheritance of two genetically unrelated but similar haplotypes. However, our data favored the occurrence of SB/DR recombination with a meiotic distance perhaps as large as 3.3 cMorgan. Recombinations were identified which mapped SB between HLA-B and GL01. These studies demonstrate the usefulness of cells from first-cousin marriage offspring in mapping a polymorphic genetic system.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00364391
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  • 9
    Electronic Resource
    Electronic Resource
    Red cell glutathione peroxidase (GPX1) variation in Afro-Jamaican, Asiatic Indian, and Dutch populations (1984)
    Springer
    Human genetics 〈Berlin〉 66 (1984), S. 352-355 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A Cellogel procedure for screening the electrophoretic variants of the human red cell glutathione peroxidase (GPX1) was described. Three hundred and ninety eight Dutch persons living in various parts of The Netherlands, 385 individuals born in various states of India, and 72 Jamaicans of African origin livig in Birmingham, UK, were screened for GPX1 variants. The Dutch were monomorphic, while one Afro-Jamaican female and two males and one female of the 116 Punjabis were found to be variants indistinguishable from each other in their pattern of electrophoresis. The clear five banded pattern of the variant indicated that the subunit structure of the human red cell glutathione peroxidase is most probably a tetramer and suggested that the variant is the expression of a heterozygote due to alleles at an autosomal locus. The corresponding phenotype was designated tentatively as GPX1 2-1 and the alleles as GPX1 *1 and GPX1 *2 respectively. The variant 2-1 was found to be identical to the “Thomas” variant described by Beutler and West (1974). Thus so far, in addition to the Afro-Americans and Ashkenazi Jews (Beutler et al. 1974), the Punjabis of the Indian subcontinent (this report) were found to exhibit the GPX1 polymorphism due to the GPX1 *2 allele. The data discussed in this paper (which included unpublished observations on several African and non-African populations) suggest that the GPX1 *2 allele is originally an African variant and hint that the present day Punjabis of Indian subcontinent, like Ashkenazi Jews, are “predominantly of Mediterranean origin with some proportion of African ancestry” (Mourant et al. 1976).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00287640
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  • 10
    Electronic Resource
    Electronic Resource
    Genetic linkage between erythrokeratodermia variabilis and Rh locus (1984)
    Springer
    Human genetics 〈Berlin〉 68 (1984), S. 165-168 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A genetic linkage study was performed in a large Dutch kindred with erythrokeratodermia variabilis (EKV, McKusick no. 13320). The autosomal-dominant trait appeared to segregate rather consistently with the cde (r) gene complex of the Rh system. Only one recombinant was found amongst 27 informative individuals. Lod score calculations gave strong evidence for close linkage between the loci for EKV and Rh (with a maximum lod score of 5.55 at a recombination fraction of 0.044).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00279308
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