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  • Articles  (36)
  • 1995-1999  (36)
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  • Articles  (36)
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  • 1
    Electronic Resource
    Electronic Resource
    The question of heterogeneity in Marfan syndrome (1995)
    [s.l.] : Nature Publishing Group
    Nature genetics 9 (1995), S. 228-229 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Sir—In the November 1994 issue of Nature Genetics, Collod and colleagues1 claim to provide definitive evidence for the assignment of a second locus for Marfan syndrome (MFS) to chromosome region 3p24.2–p25. This conclusion is based upon genetic linkage study of a single large kindred, ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng0395-228
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  • 2
    Electronic Resource
    Electronic Resource
    Abnormal Grain Growth in Ti- and Zr-Containing Hot Rolled Electrical Steels (1996)
    s.l. ; Stafa-Zurich, Switzerland
    Materials science forum Vol. 204-206 (Mar. 1996), p. 685-690 
    Details
    ISSN: 1662-9752
    Source: Scientific.Net: Materials Science & Technology / Trans Tech Publications Archiv 1984-2008
    Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics
    Type of Medium: Electronic Resource
    URL: http://www.tib-hannover.de/fulltexts/2011/0528/02/01/transtech_doi~10.4028%252Fwww.scientific.net%252FMSF.204-206.685.pdf
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  • 3
    Electronic Resource
    Electronic Resource
    Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene (1997)
    Springer
    Human genetics 〈Berlin〉 101 (1997), S. 75-80 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Neurofibromatosis type 1 (NF1), characterised by peripheral neurofibromas, café-au-lait spots and iris Lisch nodules, is one of the most common inherited disorders. We have analysed exons 35 to 49 in 21 unrelated NF1 patients using reverse transcription-polymerase chain reaction and protein truncation analysis. In two unrelated patients we found skipping of exon 37 at the cDNA level. Sequence analysis of genomic DNA revealed the presence of a C6792A transversion in one patient and a C6792G transversion in a second patient; both transversions change the codon for tyrosine to a nonsense codon. Sequencing of the exonic sequences as well as the branch sites, and the 3′ and 5′ splice sites of exons 36, 37 and 38 did not reveal any additional sequence abnormality. This is the first report showing that nonsense mutations in the NF1 gene can induce the skipping of a constitutive exon.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050590
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  • 4
    Electronic Resource
    Electronic Resource
    Substitution of glycine-661 by serine in the α1(I) and α2(1) chains of type I collagen results in different clinical and biochemical phenotypes (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 324-329 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We have characterised a point mutation causing the substitution of serine for glycine at position 661 of the α1(I) chain of type I collagen in a child with a severe form of osteogenesis imperfecta. An identical glycine substitution in the α2(I) chain was previously detected in a woman with post-menopausal osteoporosis. Two of her sons were heterozygous for the mutation and the third son was homozygous as a result of uniparental isodisomy. Biochemical profiles of the type I collagen heterotrimers were studied in each of the patients and compared with a control. Medium and cell-layer collagens were overmodified in all patients. Overmodification was obvious in the patient with the α1(I) mutation but mild in the patients with the α2(I) mutation, being slightly less evident in the heterozygote than in the homozygote. Investigation of the melting curves of the mutant collagen trimers in all three patients showed the same slight decrease in thermal stability and, hence, a lack of correlation with phenotypic severity. In contrast, the degree of overmodification of the collagen alpha chains was correlated with the phenotypic severity. The clinical observations in these patients illustrate the possibly predominant role of mutations in the collagen α1(I) chains over the same mutations in the α2(I) chains in determining the clinical outcome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02185764
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  • 5
    Electronic Resource
    Electronic Resource
    Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes (1997)
    Springer
    Human genetics 〈Berlin〉 99 (1997), S. 478-483 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We report two sibs with severe, progressively deforming osteogenesis imperfecta (OI) and homozygosity by descent for a glycine 751 to serine substitution in the α2(I) collagen chain due to a G to A transition in the COL1A2 gene. The parents, who were first cousins, and two elder sibs were heterozygous for the mutation and presented mild clinical manifestations of OI. Collagen studies on cultured fibroblasts from one of the probands and from the father showed that cells from the homozygote produced only mutant, unstable collagen I, whereas cells from the heterozygote produced both normal and mutant collagen I. This family represents an exceptional example of autosomal recessive OI, caused by homozygosity for a missense mutation in collagen I.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050392
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  • 6
    Electronic Resource
    Electronic Resource
    A mitochondrial sub-stoichiometric orf87-nad3-nad1 exonA co-transcription unit present in Solanaceae was amplified in the genus Nicotiana (1997)
    Springer
    Current genetics 31 (1997), S. 55-62 
    Details
    ISSN: 1432-0983
    Keywords: Key words Plant mitochondria  ;  nad3 duplication  ;   Amplification/recombination  ;  Gene co-transcription
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Unlike other plant species, two copies of nad3 are present in Nicotiana sylvestris mitochondria. Both are localized downstream from an open reading frame (orf87 ), and are associated with either rps12 or the first exon of the nad1 gene. The orf87-nad3-nad1/A cluster is present in normal stoichiometry in Nicotiana tomentosiformis and is sub-stoichiometric in other Solanaceae, revealing recent amplification in the genus Nicotiana. It is suggested from sequence analysis that this cluster originated in an homologous recombination event that involved the nad3-rps12 intergenic region and the upstream region of an ancestral nad1 gene. Transcription patterns and RT-PCR showed that orf87-nad3-rps12 and orf87-nad3-nad1/A clusters are both co-transcription units.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002940050176
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  • 7
    Electronic Resource
    Electronic Resource
    Substitution of glycine-661 by serine in the α1(I) and α2(I) chains of type I collagen results in different clinical and biochemical phenotypes (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 324-329 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We have characterised a point mutation causing the substitution of serine for glycine at position 661 of the α1(I) chain of type I collagen in a child with a severe form of osteogenesis imperfecta. An identical glycine substitution in the α2(I) chain was previously detected in a woman with post-menopausal osteoporosis. Two of her sons were heterozygous for the mutation and the third son was homozygous as a result of uniparental isodisomy. Biochemical profiles of the type I collagen heterotrimers were studied in each of the patients and compared with a control. Medium and cell-layer collagens were overmodified in all patients. Overmodification was obvious in the patient with the α1(I) mutation but mild in the patients with the α2(I) mutation, being slightly less evident in the heterozygote than in the homozygote. Investigation of the melting curves of the mutant collagen trimers in all three patients showed the same slight decrease in thermal stability and, hence, a lack of correlation with phenotypic severity. In contrast, the degree of overmodification of the collagen alpha chains was correlated with the phenotypic severity. The clinical observations in these patients illustrate the possibly predominant role of mutations in the collagen α1(I) chains over the same mutations in the α2(I) chains in determining the clinical outcome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050043
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  • 8
    Electronic Resource
    Electronic Resource
    Relationship Between Etomidate Plasma Concentration and EEG Effect in the Rat (1999)
    Springer
    Pharmaceutical research 16 (1999), S. 924-929 
    Details
    ISSN: 1573-904X
    Keywords: etomidate ; pharmacokinetics ; pharmacodynamics ; rat ; electroencephalogram
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology
    Notes: Abstract Purpose. The effect-plasma concentration relationship of etomidate was studied in the rat using electroencephalographic changes as a pharmacodynamic parameter. Methods. Etomidate was infused (50 mg/kg/h) in chronically instrumented rats (n = 6) until isoelectric periods of 5 s or longer were observed in the electroencephalogram (EEG). The EEG was continuously recorded during the experiment and frequent arterial blood samples were taken for determination of etomidate plasma concentrations. The changes observed in the raw EEG signal were quantified using aperiodic analysis in the 2.5−7.5 Hz frequency band. The return of the righting reflex was used as another parameter of anesthesia. Results. A mean dose of 8.58 ± 0.41 mg/kg needed to be infused to reach the end point of 5 s isoelectric EEG. The plasma concentration time profiles were most adequately fitted using a three-exponential model. Systemic clearance, volume of distribution at steady-state and elimination half-life averaged 93 ± 6 ml/min/kg, 4.03 ± 0.24 l/kg and 59.4 ± 10.7 min respectively. The EEG effect-plasma concentration relationship was biphasic exhibiting profound hysteresis. Semi-parametric minimization of this hysteresis revealed an equilibration half-life of 2.65 ± 0.15 min, and the biphasic effect-concentration relationship was characterized nonparametrically by descriptors. The effect-site concentration at the return of the righting reflex was 0.44 ± 0.03 μg/ml. Conclusions. The results of the present study show that the concentration-effect relationship of etomidate can be characterized in individual rats using aperiodic analysis in the 2.5−7.5 Hz frequency band of the EEG. This characterization can be very useful for studying the influence of diseases on the pharmacodynamics of etomidate in vivo.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1018894523734
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  • 9
    Electronic Resource
    Electronic Resource
    Deletion of the last two exons of the mitochondrialnad7 gene results in lack of the NAD7 polypeptide in aNicotiana sylvestris CMS mutant (1995)
    Springer
    Molecular genetics and genomics 248 (1995), S. 79-88 
    Details
    ISSN: 1617-4623
    Keywords: Nicotiana sylvestris ; Cytoplasmic male sterility ; Mitochondrial DNA deletion ; Substoichiometric sequences ; Mitochondrialnad7 gene
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract InNicotiana sylvestris, two cytoplasmic male sterile (CMS) mutants obtained by protoplast culture show abnormal developmental features of both vegetative and reproductive organs, and mitochondrial gene reorganization following homologous recombination between 65 bp repeated sequences. A mitochondrial region of 16.2 kb deleted from both CMS mutants was found to contain the last two exons of thenad7 gene coding for a subunit of the mitochondrial respiratory chain complex I, which is encoded in the nucleus in fungi and animals but was recently found to be encoded by the mitochondrial genome in wheat. Although theN. sylvestris nad7 gene shows strong homology with its wheat counterpart, it contains only three introns instead of four. Polymerase chain reaction (PCR) experiments indicated that the parental gene organization, including the completenad7 gene, is probably maintained at a substoichiometric level in the CMS mutants, but this proportion is too low to have a significant physiological role, as confirmed by expression studies showing the lack of detectable amounts of the NAD7 polypeptide. Consequently, absence of NAD7 is not lethal to plant cells but a deficiency of complex I could be involved in the abnormal CMS phenotype.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02456616
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  • 10
    Electronic Resource
    Electronic Resource
    Tissue-specific expression of genes encoding isoforms of the mitochondrial ATPase β subunit in Nicotiana sylvestris (1998)
    Springer
    Plant molecular biology 38 (1998), S. 885-888 
    Details
    ISSN: 1573-5028
    Keywords: β ATPase isoforms ; mitochondrial (mt) proteins ; pollen-specific expression ; nuclear/mitochondrial interactions
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract We report here that the catalytic β subunit of the mitochondrial ATPase/ATP synthase is encoded by a small multigenic family in the diploid tobacco Nicotiana sylvestris (nsatp2 genes). cDNAs and genes corresponding to the β1, β2 and β3 (pollen specific) isoforms previously detected by 2D-SDS PAGE were isolated. Nsatp2.1 and nsatp2.2 transcripts were found in all vegetative and reproductive tissues analysed. In contrast, nsatp2.3 transcripts were found exclusively in bicellular pollen. As a whole, steady-state transcript levels of nuclear nsatp2 and mitochondrial atp1 genes were found to be closely correlated.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1006088308544
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