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  • 1
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The metabolic error involved in idiopathic hemochromatosis, as well as the underlying genetic defect remain unknown. It has, however, been recently shown that this genetic lesion occurs at a locus linked to the major histocompatibility complex, probably close to the HLA-A locus, and that the disease is recessively transmitted. Therefore, in a family where one subject has idiopathic hemochromatosis his HLA-identical siblings should also be affected. We present here the restriction polymorphism with two MHC class I probes and one DR β probe in an exceptional family with three HLA-identical siblings: one (the proband) has a major form of idiopathic hemochromatosis, while the other two are free of any clinical or biochemical signs of the disease. The restriction patterns observed after DNA digestion by enzymes EcoRI, EcoRV, BglII, BamHI, PvuII, TaqI, HincII, and HindIII led to the conclusion that one of the proband's chromosome 6 had undergone two alterations: one, a deletion in the DR region, was revealed by missing fragments all correlated with DR5; the other was an unbalanced cross-over or a genetic conversion in the MHC class I region. This latter alteration was revealed by modifications in the patterns of high molecular weight HindIII bands which hybridize with probe pHLA2 and also by the absence of a HindIII fragment of 7.4 kb hybridized by another class I probe. This latter alteration most likely involved the hemochromatosis gene and could be the first step toward a molecular approach to this gene.
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    European radiology 6 (1996), S. S18 
    ISSN: 1432-1084
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1106
    Keywords: Key words Lumbar motoneurons ; Immunohistochemistry ; Light microscopy ; GABA and glycine colocalization ; Stereology
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  The distribution of γ-aminobutyric acid (GABA) and/or glycine-immunoreactive (IR) terminal-like structures apposed to somatic and dendritic membrane of lumbar α-motoneurons in column 2 was examined in 1- and 3-week-old kittens and in the adult cat. This quantitative study was carried out using a postembedding technique on semithin sections and a stereological method, the disector. Analysis of immunoreactive terminals showed that the percentages of GABA-IR and glycine-IR terminals (these populations include terminals containing both GABA and glycine) apposed to somatic and proximal dendritic compartments of α-motoneurons are almost the same in kittens, while in the adult glycinergic innervation becomes predominant. This change results from: (1) the decrease in numbers of GABA-IR terminals contacting the somatic compartment between 3 weeks and adult stage, while the numbers of glycine-IR terminals show no significant changes after birth and the numbers of terminals containing both neurotransmitters (GABA-IR+glycine-IR) present transient changes and (2) the postnatal increase in the dendritic compartment, in numbers of GABA-IR, glycine-IR and GABA-IR+glycine-IR terminals; the increase being larger for glycine-IR terminals. Furthermore, using a postembedding immunogold technique, observations by electron microscopy showed that GABA-IR P boutons apposed to M boutons can already be identified at 1 week after birth.
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  • 4
    ISSN: 1432-2242
    Keywords: Key words Triticum aestivum ; Wheat ; Morphophysiological traits ; Inheritance ; Flag-leaf characters
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract  Flag-leaf angle (FLAngle), flag-leaf area (FLarea) and flag-leaf area duration (FLADuration) are important traits in determining yield in wheat (Triticum aestivum L). Genetic studies on these traits are very few. The objective of this study was to determine the gene action controlling those traits in four wheat crosses. Six generations were available for each cross: parents (P1 and P2), F1, F2 and backcrosses (BC(F1×P1) and BC(F1×P2)). The joint scaling test described by Mather and Jinks was used to test goodness of fit to eight genetic models. Models including additivity, dominance and interallelic interactions best fitted the data for the three traits and the four crosses. Additive effects were most prevalent for FLAngle. They were also significant for FLArea and FLADuration. Dominance and epistatic gene action were also found, but the degree and direction was both trait- and genotype-specific. Heritabilities values were intermediate. Genetic progress, although slow, can be expected when selecting for these traits; however, selection would be most effective if delayed to later generations because of dominance and epistatic effects.
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  • 5
    ISSN: 1432-8798
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Synthesis of the Epstein-Barr virus (EBV) associated early antigen (EA) can be induced by a variety of agents in Raji cells, a latently EBV-infected Burkitt lymphoma line. We investigated the role of lipoproteins in this EA induction system. Cell growth was not affected by lipoprotein-deficiency, but EA induction by most combinations of the inducers TPA (tetradecanoyl-phorbol-acetate), IdU (iododeoxyuridine), n-BA (n-butyric acid), anti-IgM and EA inducing factor (EIF), was greatly reduced. Only the inducer combination TPA/n-BA was completely independent of the presence of lipoproteins, indicating a different induction pathway. Removing the lipid moieties of the culturing serum did not result in reduced EA induction. Thus, the lowered EA inducibility in lipoprotein-deficiency is due to the absence of the protein moiety (apolipoprotein). Addition of HDL or VLDL partially reconstituted the original EA inducibility, whereas LDL had no effect. Lipoproteins were particularly important during the first 4 hours of induction, the phase where inducers may act on cell membrane structures (e.g., receptors). But lipoproteins were also required throughout the incubation period, even in a late and inducer independent phase.
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  • 6
    ISSN: 1432-0509
    Keywords: Hydatid cyst, hepatic ; Cholangiography, endoscopic retrograde
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Endoscopic retrograde cholangiopan-creatography (ERCP) was carried out on 19 patients with hydatid cyst of the liver, either before or after operation. Cholangiographic findings included biliary tract obstruction in 8 cases, intrinsic compression in 4 cases, laminated membranes or daughter cysts in the biliary tree in 3 cases, perforation into the biliary tract in 2 cases, stricture in the biliary ductal system in 1 case, and biliary fistula in the remaining case. Biliary tract obstruction was secondary to chemical cholangitis by formalin in 2 patients. ERCP is a useful procedure in patients with suspected intrabiliary rupture or when symptoms occur after surgical removal of the cyst.
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  • 7
    ISSN: 1432-0649
    Keywords: PACS: 78.47; 72.15.Lh; 36.40; 42.65.Ky
    Source: Springer Online Journal Archives 1860-2000
    Topics: Physics
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  • 8
    ISSN: 1432-0533
    Keywords: Key words Glioblastoma ; p16 ; p15 ; p14ARF ; Tetracycline-controlled operator
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Homozygous chromosome 9p deletions in gliomas commonly include the CDKN2A and CDKN2B genes, which code for the structurally highly homologous cdk inhibitors/tumor suppressors p16 and p15, respectively. Alternative splicing of the CDKN2A gene results in the expression of p14ARF. Interestingly, not only p16 and p15, but also the structurally unrelated p14ARF appear to function as negative cell cycle regulators. Concerted inactivation of p16, p15 and p14ARF could be demonstrated in seven of nine glioblastoma cell lines. Strong suppression of tumorigenicity after transfection with p16 and p15 alone or in combination was seen in cell lines containing neither endogenous p16 nor p15 but functional pRB. Significantly weaker growth suppression was observed in tumors either retaining expression of both p16 and p15 or p15 only. p14ARF proved to be a potent tumor suppressor in the presence of wild-type p53, while mutant p53 substantially reduced growth inhibition by p14ARF. No differences between p16 and p15 effects could be observed, suggesting a largely overlapping function of p16 and p15. To facilitate further research into p16/p15 effects, three cell lines with conditional, tetracycline-controlled p16 expression were established. Reversible growth suppression mediated by p16 was observed in these models. Combined inactivation of CDKN2A and CDKN2B, i.e., loss of both p16 and p15 as well as p14ARF, results in disruption of two major growth control pathways involving pRB and p53 in malignant gliomas. Therefore, homozygous co-deletions of CDKN2A and CDKN2B rather than mutations targeting individual transcripts are frequently selected for in these tumors.
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Applied physics 61 (1995), S. 89-93 
    ISSN: 1432-0649
    Keywords: 61.70 ; 72.20 ; 78.20
    Source: Springer Online Journal Archives 1860-2000
    Topics: Physics
    Notes: Abstract In LiNbO3:Fe,Me crystals (Me = K, Mg, Zn) elementary holograms are recorded and erased with frequency-doubled, ordinarily polarized pulses of a Q-switched Nd:YAG laser. At high light intensities (I 〉 109 Wm−2) holographic sensitivities and saturation values of refractive index changes grow with increasing intensity and a contribution to photo-conductivity appears increasing quadratically withI. The intensity-dependent parts of the holographic quantities are diminished by increasing the lithium content of the samples or by doping the crystals with magnesium or zinc. Experimental results can be described by a two-center charge transport model, which is the Fe2+/3+ model supplemented by shallow traps, namely niobium ions occupying lithium sites.
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  • 10
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    Journal of neurochemistry 44 (1985), S. 0 
    ISSN: 1471-4159
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Nitrobenzylthioinosine (NBMPR), a potent and specific inhibitor of nucleoside transport, was employed as a photolabile probe of the adenosine transporter in guinea pig brain membranes. Reversible, high-affinity binding of [3H]NBMPR to a crude preparation of guinea pig brain membranes was demonstrated (apparent KD 0.075 ± 0.012 nM; Bmax values of 0.24 ± 0.04 pmol/mg protein). Adenosine, uridine, dipyridamole, and nitrobenzylthioguanosine inhibited high-affinity binding. Low concentrations of cyclohexoadenosine (10–300 nM) had no effect on NBMPR binding. These properties of the high-affinity NBMPR binding sites were consistent with NBMPR binding to the nucleoside transport protein. Exposure of brain membranes in the presence of [3H]NBMPR and dithiothreitol, a free-radical scavenger, to ultraviolet light resulted in covalent incorporation of 3H into polypeptides of apparent MW 66,000–45,000, a value similar to that for the human erythrocyte nucleoside transporter. Covalent attachment of [3H]NBMPR was inhibited by adenosine, dipyridamole, and nitrobenzyl-thioguanosine.
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