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  • 2000-2004  (11)
  • 1990-1994  (20)
  • 1
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary An A-to-G transition in the second intron was the sole mutation detected in four Yupik Eskimo patients with salt-wasting congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. Allele-specific hybridization should be an efficient means of performing prenatal diagnosis of the disease in this highly inbred population.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The feasibility and accuracy of gene-specific molecular genetic diagnosis for congenital adrenal hyperplasia due to 21-hydroxylase deficiency was studied in a group of 24 pregnancies at 25% risk of carrying an affected fetus. Chorionic villus sampling was performed at 9–10 weeks' gestation. Southern analysis and polymerase chain reaction, followed by allele-specific hybridization for a panel of nine known mutations, were performed for each family. Mutations were identified in 95% of chromosomes examined; the molecular diagnosis was accurate in 96% of infants as confirmed by postnatal examination. The most common mutation identified was an A-to-G transition at base 656 in the second intron, the result of an apparent gene conversion. In one family, there had been a de novo mutation in intron 2, which was detected in the proband, but not in the mother or in the fetus. We conclude that first trimester prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency is feasible and accurate employing CYP21-specific probes.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The human B lymphocyte activation antigen B7 provides regulatory signals for T lymphocytes as a consequence of binding to its ligands CD28 and CTLA-4. The cDNA for B7 has previously been isolated and predicted to encode a type I membrane protein. The predicted polypeptide has a secretory signal peptide followed by two contiguous Ig-like domains, a hydrophobic transmembrane region and a short cytoplasmic tail. Here we report the exon-intron genomic organization of human B7 and the chromosomal location. The gene has six exons that span approximately 32 kilobases of DNA. Exon 1 is not translated and the second exon contains the initiation ATG codon and encodes a predicted signal peptide. This gene structure is characteristic for several eukaryotic genes with tissue-specific expression. The third and fourth exons correspond to two Ig-like domains whereas the fifth and sixth exons encode respectively the trans-membrane portion and the cytoplasmic tail. This close relationship between exons and functional domains is a characteristic feature of genes of the Ig superfamily. Cell surface expression of the B7 gene product has previously been mapped to human chromosome 12 by antibody reactivity with the B7-specific monoclonal antibody BB-1. We here demonstrate that theB7 gene is located to theq21-qter region of chromosome 3 by DNA blot analysis of human × rodent somatic cell hybrids.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 89 (1992), S. 243-244 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The RD (D6S45) gene in the class III region of the HLA major histocompatibility complex encodes a protein normally containing 24 consecutive basic-acidic dipeptide repeats. We determined the frequency of variations in the number of repeats by use of the polymerase chain reaction. Of 107 subjects 7 (3.3%) carried genes encoding 22 or 23 repeats. There was no difference in the frequency of such polymorphisms between normal individuals and those with systemic lupus erythematosus, a disease associated with other polymorphisms in the class III region of HLA. The frequency of polymorphisms in proteins with oligopeptide repeats may provide useful information concerning functional constraints on repeat number.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Immunogenetics 38 (1993), S. 292-295 
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A cluster of at lest six interferon-γ (IFNγ)-inducible genes designated Ifi201-204 and located on mouse chromosome 1 has recently been described. Here , we report a human IFN-γ-inducible gene, IFI 16, which has nucleotide sequence similarity with portions of two of the mouse genes, Ifi202 and Ifi204. A full-length cDNA clone derived from IFI 16 [2.709 kilobases (kb)] contained a single open reading frame of 2.187 kb which encoded a putative polypeptide of 729 amino acids and a predicted non-glycosylated M r of 80020. IFI 16 mRNA was found to be constitutively expressed in lymphoid cells and in cell lines of both the T and B lineages. By contrast, the mRNA was not expresed by the cell lines HL-60, U937, and K562, which represent early stages of myeloid development, but was strongly inducible in HL-60 and U937 with IFN-γ. The IFI 16 protein demonstrated a putative domain structure with patchy similarity to the proteins expressed from gene Ifi202 and Ifi204. The mouse and human proteins each contain two analogous ≈200 amino acid domains which are imperfect copies, but IFI 16 demonstrated additional unique regions, including a Lys-rich N-terminal portion and a “spacer” region between the reiterated domains, analogous to spacer regions in the CD5 and CD8α molecules. Using a panel of inter-species somatic cell hybrid cell lines, IFI 16 was localized to the chromosomal region 1q12→1qter, a region systenic between mouse an man. DNA blotting indicated that, in contrast to the mouse, IFI 16 is present as a single copy gene in the human genome. The authors are pleased to make the cDNA clones described in this paper available to interested investigators.
    Type of Medium: Electronic Resource
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  • 7
    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
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  • 8
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Science Ltd
    Journal of the European Academy of Dermatology and Venereology 18 (2004), S. 0 
    ISSN: 1468-3083
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background  Superficial white onychomycosis (SWO) is a distinct pattern of fungal nail invasion, which is usually treated with topical antifungals.Objective  This paper presents a case of SWO with deep penetration and records other similar cases.Methods  The clues to deep invasion of the nail plate are twofold: an inability to clear the discoloration by scraping the nail and a clinical involvement of the nail plate in the proximal nailfold area. Histology of the nail keratin will confirm deep penetration beyond the superficial layers of the nail plate.Results  In the light of this finding the authors propose a further subdivision of SWO to reflect previously unrecognized variants with therapeutic implications into: (i) the classical SWO type; (ii) the dual invasion of the nail plate, superficial and ventral; and (iii) the pseudo-SWO with deep fungal invasion of the nail plate.Conclusions  This subdivision of SWO allows the clinician to treat the patient appropriately using topical antifungals when the disease is restricted to the dorsum of the nail. Systemic drugs either in isolation or in combination with topical treatment are mandatory when deep penetration or ventral fungal invasion are observed.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    Journal of cutaneous pathology 20 (1993), S. 0 
    ISSN: 1600-0560
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: A case study of sinus histiocytosis of Rosai-Dorfman (SH) clinically limited to the skin is presented with immunohistochemical study of the infiltrate, in both paraffin and cryostal sections. Factor XIIIa, a dendrocyte marker, was demonstrated in the cytoplasm of histiocytes. This feature had not been previously reported in this disease. In addition, the cells expressed S100 protein, CD4, CD la, GD68, and GD11c. This immunophenotyping study suggests that SH could affect the antigen-presenting activity of Factor XIIIa cells, i.e., the skin dermal dendrocyte.
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    FEMS microbiology letters 190 (2000), S. 0 
    ISSN: 1574-6968
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology
    Notes: Staphylococcus carnosus 833, inoculated into sausage meat, increased the level of methyl ketones, which contributed to the cured aroma. These ketones can arise from incomplete β-oxidation followed by two enzymatic activities: a thioesterase and a decarboxylase. In this study we identified the β-oxidative pathway (through the measure of 3-hydroxyacyl-CoA dehydrogenase activity) and the thioesterase activity in extracts of S. carnosus cells grown in the presence of different methyl esters. The β-oxidative system was induced by methyl esters and highest induction was found with a 12-carbon substrate. It was specific for medium chain length fatty acyl CoA substrates. Its maximal activity was observed at the end of stationary growth phase. HPLC analyses of acyl-CoA after incubation of cell extracts with palmitoyl-CoA showed that the β-oxidation system released preferentially long chain hydroxyacyl-CoAs, enoyl-CoAs, and acyl-CoAs. The time-course of intermediate formation indicated a precursor–product relationship indicative of a model of free intermediates which could be further deacylated by a thioesterase. The thioesterase activity was enhanced when S. carnosus was grown in the presence of methyl esters with at least 12 carbons and this enzyme was specific for short chain acyl-CoAs. The maximal activity was reached at the stationary growth phase.
    Type of Medium: Electronic Resource
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