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  • 1
    Electronic Resource
    Electronic Resource
    Incidence of Menkes disease (1991)
    Springer
    Human genetics 〈Berlin〉 86 (1991), S. 408-410 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We have calculated the incidence of Menkes disease for Denmark, France, The Netherlands, the United Kingdom and West Germany, based on known Menkes patients born during the time period 1976–87. Considering live-born Menkes patients, the combined incidence for these five countries is 1 Menkes patient per 298000 live-born babies. If the number of affected aborted fetuses are taken into account, the incidence is 1 Menkes per 254000 live-born babies. This incidence, which is 2–4 times lower than earlier published incidence figures, places Menkes disease as an extremely rare disease. The mutation rate for Menkes disease is estimated to be 1.96 × 10−6, based on the number of isolated Menkes cases born during the time period 1976–87 and the total number of newborn males during this time.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00201846
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  • 2
    Electronic Resource
    Electronic Resource
    Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2 (1992)
    Springer
    Human genetics 〈Berlin〉 88 (1992), S. 668-672 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary During a systematic chromosomal survey of 167 unrelated boys with the X-linked recessive Menkes disease (MIM 309400), a unique rearrangement of the X chromosome was detected, involving an insertion of the long arm segment Xq13.3-q21.2 into the short arm at band Xp11.4, giving the karyotype 46,XY,ins(X) (p11.4q13.3q21.2). The same rearranged X chromosome was present de novo in the subject's phenotypically normal mother, where it was preferentially inactivated. The restriction fragment length polymorphism and methylation patterns at DXS255 indicated that the rearrangement originated from the maternal grandfather. Together with a previously described X;autosomal translocation in a female Menkes patient, the present finding supports the localization of the Menkes locus (MNK) to Xq13, with a suggested fine mapping to sub-band Xq13.3. This localization is compatible with linkage data in both man and mouse. The chromosomal bend associated with the X-inactivation center (XIC) was present on the proximal long arm of the rearranged X chromosome, in line with a location of XIC proximal to MNK. Combined data suggest the following order: Xcen-XIST(XIC), DXS128-DXS171, DXS56-MNK-PGK1-Xqter.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02265295
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  • 3
    Electronic Resource
    Electronic Resource
    Isolation of two small molecular weight RNA components by MAK column chromatography
    Amsterdam : Elsevier
    Archives of Biochemistry and Biophysics 142 (1971), S. 238-246 
    Details
    ISSN: 0003-9861
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Physics
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1016/0003-9861(71)90280-3
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  • 4
    Electronic Resource
    Electronic Resource
    Injuries related to the aspects of shift working - A comparison of different offshore shift arrangements
    Amsterdam : Elsevier
    Journal of Occupational Accidents 12 (1990), S. 167-176 
    Details
    ISSN: 0376-6349
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Technology
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0376-6349(90)90095-D
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  • 5
    Electronic Resource
    Electronic Resource
    Evidence for existence of messenger ribonucleoprotein complexes in Tetrahymena pyriformis
    Amsterdam : Elsevier
    Experimental Cell Research 76 (1973), S. 273-280 
    Details
    ISSN: 0014-4827
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1016/0014-4827(73)90377-7
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  • 6
    Electronic Resource
    Electronic Resource
    Timing of tRNA and 5S rRNA gene replication in Tetrahymena pyriformis
    Amsterdam : Elsevier
    Experimental Cell Research 106 (1977), S. 408-412 
    Details
    ISSN: 0014-4827
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1016/0014-4827(77)90191-4
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  • 7
    Electronic Resource
    Electronic Resource
    The use of fructose 1-phosphate to detect Hunter heterozygotes in fibroblast cultures from high-risk carriers (1984)
    Springer
    Human genetics 〈Berlin〉 66 (1984), S. 212-216 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Fibroblast cultures from 49 possible Hunter disease carriers were collected. These cultures were analysed for the incorporation of 35S-sulphate into acid mucopolysaccharides in the presence and the absence of fructose 1-phosphate. For 10 of these women more than one abnormal result was observed, when two or three cultures from each individual were tested. For six additional women only one abnormal result was found, when three cultures for each of these females were analysed. The implication that just one abnormal result indicates carriership stems from the observation that 24 out of 25 obligate carriers have been confirmed by this criterion (Tønnesen et al. 1983). By mean of the same criterion we have thus established carriership for 16 possible carriers. From genetic inference three additional carriers were found among the females showing normal results in the fibroblast cultures. As a test of the reliability of the method, analyses of the tested informative female offspring of Hunter carriers showed 20 of 38 informative females to be carriers.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00286603
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  • 8
    Electronic Resource
    Electronic Resource
    Atypical metachromatic leukodystrophy? (1984)
    Springer
    Human genetics 〈Berlin〉 67 (1984), S. 170-173 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A 3/12-year-old slightly retarded boy with marked deficiency of arylsulfatase A (ASA) activity in leucocytes and fibroblasts and almost no cerebroside sulfatase (CS) activity in fibroblasts was tested with the sulfatide-loading test. On this test his fibroblasts showed impaired degradation. A pathological excretion of sulfatides was seen in his urine. Nerve conduction velocity, visual evoked potential, auditory brain stem evoked response, and somatosensory evoked potential were all normal. His father and older brother had similarly low levels of ASA in leucocytes and fibroblasts and 1.7–2% residual CS activity in fibroblasts. Although both were clinically normal, their fibroblasts accumulated increased amounts of sulfatides when challenged in the sulfatide-loading test. In this family, this test thus will be of no value in prenatal diagnosis to discriminate among low ASA fetuses with pseudoarylsulfatase A deficiency and fetuses with this unusual ASA deficiency variant.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00272994
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  • 9
    Electronic Resource
    Electronic Resource
    Reliability of the use of fructose 1-phosphate to detect Hunter cells in fibroblast-cultures of obligate carriers of the Hunter syndrome (1983)
    Springer
    Human genetics 〈Berlin〉 64 (1983), S. 371-375 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Pulse-chase experiments measuring 35S-sulphate incorporation into acid mucopolysaccharides were performed in the presence and absence of fructose 1-phosphate on fibroblasts obtained from one skin-biopsy of 25 obligate Hunter carriers. The presence of fructose 1-phosphate significantly increased the accumulation of 35S-labelled acid mucopolysaccharides in fibroblast cultures of 23 obligate Hunter carriers. In one carrier, the accumulation of labelled acid mucopolysaccharides was significantly increased prior to the addition of fructose 1-phosphate, and in one of the 25 obligate carriers the 35S-sulphate incorporation was normal in the presence as well as in the absence of fructose 1-phosphate. Similar experiments performed on mixtures of Hunter cells and normal cells revealed that 20% Hunter cells should be present to obtain a significantly increased difference in between the incroporation in the presence and in the absence of fructose 1-phosphate. Fructose 1-phosphate had no effect on the accumulation of labelled mucopolysaccharides in fibroblast-cultures of seven women with no family history of mucopolysaccharidosis. The present results show that pulse-chase experiments measuring 35S-sulphate incorporation into fibroblasts, cultured in the presence of fructose 1-phosphate, can identify Hunter carriership, provided that the accumulation is normal prior to the addition of fructose 1-phosphate. Furthermore, 35S-sulphate incorporation in the absence of fructose 1-phosphate, higher than mean +4 SD of normal control-fibroblasts indicates carriership.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00292369
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  • 10
    Electronic Resource
    Electronic Resource
    The effects of daunomycin and ethidium bromide on Escherichia coli (1973)
    Springer
    Molecular genetics and genomics 124 (1973), S. 177-186 
    Details
    ISSN: 1617-4623
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary The effects of two DNA-intercalating agents daunomycin (DMC) and ethidium bromide (EBR) on transcription, translation and replication in Escherichia coli have been studied. The data are consistent with the notion that low concentrations of these drugs primarily inhibit transcription and replication to equal extents and that translation is halted indirectly as a result of the decay of the messenger RNA pool. The half-life of messenger RNA determined from the kinetics of radioactive leucine uptake after drug addition is identical to that determined after rifampicin addition. High concentrations of DMC or EBR appear to have a direct effect on translation. E. coli strain AS19, a mutant originally selected for increased permeability to actinomycin D (Sekiguchi and Iida, 1967), is two orders of magnitude more sensitive to DMC or EBR than is a K12 strain of E. coli. A method is described for selection of DMC-sensitive mutants of E. coli K12, based on the partial reversibility of the drug-induced growth inhibition. These mutants show greater sensitivity to DMC, EBR, rifampicin, mitomycin and tosyl-1-phenylalanyl chloromethane, but not actinomycin D. The mutation maps near the lac gene.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00293089
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