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  • 1
    Electronic Resource
    Electronic Resource
    Oxford, U.K. and Cambridge, USA : Blackwell Science Ltd
    ISSN: 1365-3083
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: The DRB subregion of the HLA complex contains, in addition to the functional genes, a number of pseudogenes and gene fragments. Fourteen kilobases of DNA were sequenced from the segment upstream of the DRB9 gene fragment, as well as shorter segments from different HLA and corresponding ape haplotypes. The analysis of the sequences and restriction fragments indicates that the segment is a remnant of an ancient DRB subregion which may have been functional before the primate radiation and which later became the source of extant functional DRB genes in various primate groups, different ones in different groups. The remnant segment has remained constant in its organization for at least 4 million years. This constancy contrasts with the variability of the adjacent functional part of the DRB subregion occupied by the DRB1 and other loci. The constancy may be related to the monomorphism and evolutionary conservation of the DRA locus.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1365-3083
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: The genome of the cichlid (teleost) fish Oreochromis niloticus contains a set of genes which encode group V C-type lectin proteins homologous to the mammalian NKG2/CD94 family of natural killer (NK) cell receptors. To determine the genomic organization of these killer cell-like receptor (KLR) genes, an O. niloticus BAC library was screened with a cDNA probe derived previously from an expressed sequence tag of the related cichlid species Paralabidochromis chilotes. Four distinct KLR-bearing BAC clones were analysed, three of which could be assembled into a contig. One of the clones was sequenced in its entirety, whereas the others were partially sequenced to identify the KLR loci borne by them. Altogether, 28 distinct KLR loci were identified, of which at least 26 occupy a single chromosomal region, the KLR complex. One half of the loci appear to be occupied by pseudogenes. Compared to the human NK cell receptor complex, the Oreochromis KLR complex is more compact and, apart from transposons, appears to contain only KLR loci. The gene density of the complex is one KLR locus per 18 kb of sequence. All the KLR loci constituting the complex are derived from a single most recent common ancestor, which is estimated to have existed 7.7 million years ago. The 180 kb of the determined sequence is a mosaic of blocks of similar segments reflecting a complex history of duplications, deletions and rearrangements. The transposons found in the sequenced part belong to the TC1, Xena, CR1 and TX1 families.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1365-3083
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: The α2-macroglobulin (A2M) and the complement components C3 and C4 are related proteins derived from a common ancestor. Theoretically, this derivation could have occurred either by tandem duplications of their encoding genes or by polyploidization involving chromosomal segments, a chromosome or the whole genome. In tetrapods the A2M-, C3- and C4-encoding genes are generally each located on a different chromosome. This observation has been interpreted as supporting their origin by polyploidization. We identified and mapped (with the help of a radiation hybrid panel of cell lines) the A2M, C3 and C4 loci in the zebrafish, Danio rerio. Each of the three types of loci is present in the zebrafish in multiple copies, but all of the identified copies of a given type map to the same region in linkage groups 1 (C3) and 15 (A2M, C4). The A2M and C4 loci are mapped in the same region not linked to any of the class I or class II major histocompatibility complex (Mhc) loci. These observations are interpreted as supporting the origin of the A2M family of genes by tandem duplications, followed by the dispersal of the copies to different chromosomes. It is also argued that the association of C4 with the class I/II loci in tetrapods is accidental and without functional significance.
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  • 4
    Electronic Resource
    Electronic Resource
    Oxford, U.K. and Cambridge, USA : Blackwell Science Ltd
    ISSN: 1365-3083
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Science Ltd
    ISSN: 1365-3083
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1365-2516
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary.  Outlined is our experience with couples in whom the male was both human immunodeficiency virus (HIV) seropositive and a haemophiliac who underwent assisted reproductive technologies (ART) in order to attain family goals while minimizing the risk of HIV transmission. We report their demographics, attitudes towards assisted reproduction, and ART performance and outcomes. The study included HIV serodiscordant couples (n = 11) who underwent ART at a university-based infertility practice from August 1997 to May 2002. Prior to treatment, couples prospectively completed a survey regarding their demographics and attitudes towards assisted reproduction. All couples underwent ART and pregnancy outcomes were analysed. The majority of the patients were fully employed, college-educated, in good health, married and motivated to have a child while minimizing the risk of HIV transmission. Eleven couples underwent 25 cycles of ART [19 in vitro fertilization (IVF) cycles; five frozen embryo transfer cycles; and one oocyte donation cycle] resulting in nine successful pregnancies. The ongoing/delivered pregnancy rate per initiated IVF cycle was 42.1% per embryo transfer. Eight of 11 (72.7%) couples achieved a successful pregnancy. More than half (six of 11; 54.5%) the couples conceived during their initial attempt. Four of nine (44.4%) pregnancies were multiple gestations, including three sets of triplets. All female recipients tested seronegative for HIV at 3 and 6 months post-embryo transfer. All delivered babies (n = 8) tested seronegative for HIV at birth and 3 months postpartum. Four pregnancies are currently ongoing. ART should be considered for HIV serodiscordant couples with haemophilia who desire to have children in order to minimize the risk of viral infection.
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  • 7
    ISSN: 1365-3083
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Cathepsins are enzymes that have been cleaving peptide bonds of lysosomal proteins probably since lysosomes appeared in early eucaryotes. When the adaptive system emerged in gnathostomes, cathepsins were recruited to produce peptides for loading onto the major histocompatibility complex class II molecules and for degrading the class II-associated invariant chain just before the loading. The circumstances under which this recruitment took place are unclear because the knowledge about vertebrate cathepsins is limited largely to mammals. To shed light on the recruitment, 10 amphioxus, one lamprey and one cichlid fish cathepsin cDNA clone were characterized and analysed phylogenetically. Disregarding cathepsin O, whose phylogenetic position is uncertain, the analysis confirms the existence of two old lines of descent, the B and the L lineages of cathepsins, which diverged from each other early in the evolution of eucaryotes. The B lineage encompasses cathepsins B, C and Z (X). The L lineage splits off sublineages encompassing cathepsins F and W before the plant–animal separation and cathepsin H early in the evolution of the metazoa. The remaining cathepsins belonging to the L lineage diverged from one another during the evolution of vertebrates: S, K and L before the emergence of bony fishes, and the group of rodent placentally expressed cathepsins [J (P), M, Q, R, 3, 6, 7 and 8] as well as the testis/ova-expressed cathepsins (testins) probably after the divergence of rodents from primates. The part possibly played by the adaptive immune system in some of these divergences is discussed.
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  • 8
    ISSN: 1365-2044
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: We report the pre-operative preparation and anaesthetic management for resection of an intracerebral tumour during awake craniotomy in a 9-year-old boy. We believe this is the youngest patient reported to have undergone this procedure. The challenges of sedation and psychological care throughout the procedure are discussed. We conclude that the procedure can be performed safely and that it seems unacceptable to uphold an age restriction. We believe that it is the individual level of development of the child that determines suitability for this type of surgery.
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