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  • 1
    Electronic Resource
    Electronic Resource
    Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA (1992)
    Springer
    Human genetics 〈Berlin〉 90 (1992), S. 12-16 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Direct cDNA sequencing has been performed on asymmetrically amplified transcripts from the human porphobilinogen deaminase gene. Lymphocytes from 30 patients with acute intermittent porphyria were the source of mRNA; of the seven separate point mutations detected, three were silent, whereas four resulted in amino acid changes. Three of these changes involved highly conserved amino acids, and the remaining one a conserved charge. One of these mutations was predicted to cause structural alterations in the protein product. The application of this method to affected families allows the direct identification of these heterogeneous mutations, thus permitting the unequivocal detection of carriers.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00210738
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  • 2
    Electronic Resource
    Electronic Resource
    Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria (1993)
    Springer
    Human genetics 〈Berlin〉 92 (1993), S. 619-622 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Direct cDNA sequencing was performed on asymmetrically amplified transcripts from the porphobilinogen deaminase (PBG-D) gene of thirteen unrelated individuals with acute intermittent porphyria. Four different mutations and a polymorphic site were detected in exon 12 of the gene, four being the result of single base substitutions and one being caused by dinucleotide deletion. All of these mutations are located in domain 3 of the PBG-D molecule, with the single base substitutions affecting the hydrophobic interfaces between domains 1 and 3. The dinucleotide deletion results in a frame-shift producing a premature stop codon.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00420949
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  • 3
    Electronic Resource
    Electronic Resource
    Evidence for involvement of a second genetic locus on chromosome 11q in porphyrin metabolism (1993)
    Springer
    Human genetics 〈Berlin〉 91 (1993), S. 576-578 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Chester porphyria is a distinct type of acute porphyria, which shows a biochemical overlap with acute intermittent and variegate porphyrias and has a dual enzyme deficiency of porphobilinogen deaminase (PBGD) and protoporphyrinogen oxidase. Linkage analysis in an extensive family with Chester porphyria was undertaken using multiple polymorphic markers. A maximum two point Lod score of 5.25 at 0.07 recombination (confidence interval 0.01 to 0.14) was observed with D11S351, which has been localised to 11q23.1. Multipoint linkage analysis confirmed the two point results and gave a maximum Lod score of 7.33 at a distance less than 1 cM proximal to D11S351. PBGD also maps to 11q but four recombinants could be identified from ten informative meioses in this family using a PBGD DNA polymorphism. Thus, a separate locus on 11q appears to be the basis of Chester porphyria.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00205083
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  • 4
    Electronic Resource
    Electronic Resource
    The effects of chronic carbamazepine treatment on haem biosynthesis in man and rat (1988)
    Springer
    European journal of clinical pharmacology 35 (1988), S. 241-247 
    Details
    ISSN: 1432-1041
    Keywords: carbamazepine ; porphyria ; epilepsy ; haem biosynthesis ; enzyme induction
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Medicine
    Notes: Summary The anticonvulsant drug carbamazepine has been reported to produce a condition clinically and biochemically similar to acute intermittent porphyria (AIP). We have determined the effect of chronic carbamazepine treatment on the activities of the enzymes of haem biosynthesis in circulating blood cells and on the urinary excretion of porphyrins and their precursors in 53 epileptic patients receiving monotherapy and in 42 age- and sex-matched controls. In the patients the mean activity of leucocyte 5-aminolaevulinic acid (ALA) synthase, the rate-limiting enzyme of the pathway, was 218% of control values (p〈0.001) and ALA-dehydratase activity was reduced by 37% (p〈0.001). Circulating carbamazepine concentrations correlated negatively with ALA dehydratase (r s=−0.45;p〈0.01). Porphobilinogen deaminase and uroporphyrinogen decarboxylase appeared unaffected by carbamazepine treatment. Significant quantitative increases in the urinary excretion of porphobilinogen and total porphyrins (bothp〈0.05) accompanied the changes in enzyme activity. Similar dose-dependent effects on ALA synthase and ALA dehydratase were shown to occur in rats treated for 5 days with 3 different doses of carbamazepine. These findings further support the porphyrinogenicity of carbamazepine, but the pattern of enzyme alteration differs from that found in AIP.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00558260
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  • 5
    Electronic Resource
    Electronic Resource
    The effects of industrial lead poisoning on cytochrome P450 mediated phenazone (antipyrine) hydroxylation (1977)
    Springer
    European journal of clinical pharmacology 12 (1977), S. 235-239 
    Details
    ISSN: 1432-1041
    Keywords: phenazone ; lead ; haem biosynthesis ; cytochrome P450 ; saliva
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Medicine
    Notes: Summary In a group of ten male adults admitted to hospital with clinical symptoms of lead exposure, phenazone elimination rates, blood δ-amino-laevulinic acid dehydratase (ALA.D) activity, blood lead levels and haemoglobin were measured. Investigations were carried out before, immediately after and again at least 12 weeks after cessation of CaEDTA (sodium calcium edetate) chelation therapy. Following chelation, phenazone elimination rates were increased as assessed by a decrease in half life and increase in clearance. This was significant, both immediately after and 12 weeks after cessation of chelation therapy. The change in rate of phenazone metabolism was associated with improved clinical status, with lowered blood lead levels and raised haemoglobin and ALA.D activity. The results of the study suggest that the depression in phenazone elimination in lead intoxication is possibly due to depressed hepatic cytochrome P450 levels.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00609867
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  • 6
    Electronic Resource
    Electronic Resource
    Correlation between interface nitrogen and the fixed charge in thermally nitrided silicon dioxide on silicon (1990)
    [S.l.] : American Institute of Physics (AIP)
    Journal of Applied Physics 68 (1990), S. 4662-4666 
    Details
    ISSN: 1089-7550
    Source: AIP Digital Archive
    Topics: Physics
    Notes: Silicon dioxide layers of 250 A(ring) thick were grown on Si at 1000 °C in a dry O2/TCA ambient. Thermal nitridation of the samples was performed in a pure ammonia ambient at temperatures from 900 to 1100 °C with one hour time intervals up to a maximum of 4 h. The fixed charge state densities at the interface of the samples were determined from high frequency C-V measurements, and the breakdown fields from I-V curves. Secondary ion mass spectroscopy depth profiles show low levels of contaminants, and high levels of nitrogen at the interface for samples annealed at temperature greater than or equal to 1000 °C and for periods longer than 2 h. Post metal annealing of the nitrided samples appears to help in reducing the trapped charges. Better quality films with lower Qf and VFB shifts, and higher breakdown fields were achieved for samples annealed at 1100 °C. Metal-oxide-semiconductor device quality nitrided films with a Qf of 1010/cm2 were achieved by optimizing the process conditions at 1100 °C. The fixed charge build up for lower nitridation temperatures (〈1000 °C) and times (〈2 h)is due to the dissociation of Si—O bonds in the presence of hydrogen, and is in accordance with the earlier results in the literature. However, the reduction in the fixed charge buildup at 1100 °C, we believe, is due to the increased levels of nitrogen.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1063/1.346177
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  • 7
    Electronic Resource
    Electronic Resource
    Plumbosolvency of Waters (1973)
    [s.l.] : Nature Publishing Group
    Nature 243 (1973), S. 222-223 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] The lead piping used in the experiment was a typical piece of lead pipe (internal diameter 0.5 inch) which had previously been used for about 50 yr. Measurements of lead content were made after 1 h of contact of water with the pipe. Plumbosolvency is defined as the rate of solution of lead and is ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/243222a0
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  • 8
    Electronic Resource
    Electronic Resource
    Oxatrimethylenemethane metal complexes (1993)
    Springer
    Transition metal chemistry 18 (1993), S. 348-352 
    Details
    ISSN: 1572-901X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00207962
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  • 9
    Electronic Resource
    Electronic Resource
    The effects of bromocriptine and prolactin on porphyrin biosynthesis in the Harderian gland of the male hamster, Mesocritecus auratus (1995)
    Springer
    Journal of comparative physiology 164 (1995), S. 524-529 
    Details
    ISSN: 1432-136X
    Keywords: Porphyrin ; Harderian gland ; Bromocriptine ; Prolactin ; Hamster, Mesocritecus
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Porphyrin biosynthesis was examined in the Harderian gland of the male golden hamster by fluorometric assays of gland porphyrin content and by measuring the activity of a rate-limiting enzyme for haem biosynthesis, 5-aminolaevulinic acid synthase. Both porphyrin content and enzyme activity are low in normal male glands but were greatly raised in males castrated for 6 weeks. However, porphyrin synthesis remained at basal levels in castrates given the dopamine agonist bromocriptine; this suppression could be reversed by simultaneous prolactin administration, and castrated males receiving prolactin alone exhibited very high enzyme activity and porphyrin content. Bromocriptine also prevents the morphological feminisation of the Harderian gland which would normally occur after castration; again, the simultaneous administration of prolactin permits feminisation to occur. The results support the hypothesis that, while androgens have an inhibitory effect on porphyrin synthesis within this model, other factors, including prolactin, are permissive.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00261392
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  • 10
    Electronic Resource
    Electronic Resource
    The effects of bromocriptine and prolactin on porphyrin biosynthesis and morphology in the female hamster Harderian gland (1996)
    Springer
    Journal of comparative physiology 166 (1996), S. 144-149 
    Details
    ISSN: 1432-136X
    Keywords: Porphyrin ; Harderian gland ; Bromocriptine ; Prolactin ; Hamster
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Porphyrin biosynthesis was examined in the Harderian gland of the female golden hamster by fluorometric assays of gland porphyrin content and by measuring the activity of a rate-limiting enzyme for haem biosynthesis, δ-aminolaevulinic acid synthase. Both porphyrin content and enzyme activity are high in normal female glands. Enzyme activity was lowered in females ovariectomised for 6 weeks, and both enzyme activity and porphyrin content were greatly lowered in ovariectomised females given the dopamine agonist bromocriptine; this suppression could be prevented by simultaneous prolactin administration. Bromocriptine (but not ovariectomy alone) also masculinised the morphology of the Harderian gland, resulting in the appearance of type II cells and polytubular complexes; again, the simultaneous administration of prolactin prevented masculinisation. The results support the hypothesis that while androgens have an inhibitory effect on porphyrin synthesis within this model, prolactin may have a major facilitatory role.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00301178
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