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81.
J. Ch. Deybach B. Grandchamp Mireille Grelier Y. Nordmann J. Boué A. Boué P. de Berranger 《Human genetics》1980,53(2):217-221
Summary Amniotic fluid porphyrins, biosynthesis of porphyrins by amniotic cells, and uroporphyrinogen III cosynthetase were studied after the 17th week of a pregnancy at risk for congenital erythropoietic porphyria (CEP)1. Only coproporphyrin was found in amniotic fluid. A diagnosis of CEP was ruled out by the demonstration of normal cosynthetase activity; biosynthesis of porphyrins was identical, not only in the propositus and in control amniotic cells, but also in patients with CEP and in control skin fibroblasts. 相似文献
82.
P. Couillin M. L. Kottler-Missonnier M. C. Grisard J. Hors J. Feingold J. Boué A. Boué 《Human genetics》1980,53(3):389-392
Summary HLA markers (A, B, C, DR loci) were determined for the members of 52 unrelated families with at least one child suffering from congenital adrenal hyperplasia due to 21 hydroxylase deficiency, permitting genotyping.The gene frequencies of the 52 index cases were compared with those obtained from the parents' normal haplotypes and with those of a control reference panel.No significant differences were observed, except a clear decrease in the frequency of HLA-B8 among the haplotypes that carry the gene for congenital adrenal hyperplasia. 相似文献
83.
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85.
E. Boużyk I. Buraczewska O. Rosiek B. Sochanowicz I. Szumiel 《Radiation and environmental biophysics》1991,30(2):105-116
Summary L5178Y-R (LY-R) and L5178Y-S (LY-S) cells, differing in radiation sensitivity and susceptibility to the radiosensitizing effect of benzamide (Bz) were examined for susceptibility to hydrogen peroxide. Survival and chromatid aberration frequency indicated that LY-R cells were considerably more sensitive to H2O2 than LY-S cells. So, LY strains were found to be inversely crosssensitive to X/ rays and H2O2. The relative resistance to H2O2 corresponded with the previously found twofold difference in catalase activity (Jaworska et al. 1987). At higher concentrations H2O2 treatment caused interphase death, that was delayed by benzamide (Bz, 2 mM), an inhibitor of po1y(ADP-ribosylation), to a lesser extent in the more resistant cell subline (LY-S). From the examination of the H2O2 induced increase in the free Ca2+ concentration (with or without 2 mM Bz treatment) with the use of Fura-2 it followed, that the cells responded to the oxidative stress by Ca2+ release. The Ca2+ concentration increase was neither directly related to the killing effect of H2O2 treatment, nor did it correspond with the twofold difference in catalase activity in LY strains. 相似文献
86.
Single doses of DL-alpha-amino-beta-(2-pyridine)propanoic acid (2-PA, 100 mg/kg) significantly decreased the holoenzyme and apoenzyme activities of rat liver tryptophan pyrrolase (TP) and increased brain tryptophan, serotonin (5-HT) and 5-hydroxyindole-3-ylacetic acid concentrations. 2-PA had no inhibitory effect on either of the enzyme activities in vitro, but its expected metabolites were effective. Single doses of DL-alpha-amino-beta-(3-pyridine)propanoic acid (3-PA, 100 mg/kg) decreased only the holoenzyme activity and elevated brain tryptophan and its metabolites levels in rats. 3-PA and its metabolite, 3-pyridylpyruvate, inhibited only the holoenzyme activity in vitro. DL-alpha-Amino-beta-(4-pyridine)propanoic acid (4-PA) caused significant changes in liver TP (holo- and apoenzyme forms) activity and brain tryptophan concentration only after repeated administration (100 mg/kg/day). 4-PA was a weak inhibitor of the holoenzyme, but its metabolites apparently inhibited the holo- and apoenzyme activities in vitro. These findings suggest that PA analogs (and/or their metabolites) increased brain tryptophan (and hence 5-HT synthesis) by directly inhibiting liver TP activity. 相似文献
87.
The structural gene for transferrin (TF) maps to 3q21----3qter 总被引:2,自引:0,他引:2
C Huerre G Uzan K H Grzeschik D Weil M Levin M C Hors-Cayla J Boué A Kahn C Junien 《Annales de génétique》1984,27(1):5-10
A cloned human cDNA for transferrin (TF) was used as hybridization probe in analysing a series of rodent x human somatic cell hybrids for the presence of human TF sequences. The assignment to chromosome 3 was further refined to region 3q21----3qter using hybrids that carried a translocated chromosome 3 and fibroblasts from a patient trisomic for this region. The gene for TF therefore maps to the same region as the gene for transferrin receptor (TFR) thereby defining an iron transport region on 3q2 to which the transferrin-related tumor associated antigen p97 may also belong. It follows that the genes for pseudocholinesterase (CHE1), ceruleoplasmin (CP) and alpha-2HS-glycoprotein (A2HS) which belong to the, as yet unassigned, linkage group of TF, now also map to chromosome 3 in man. 相似文献
88.
89.
El Fakhry Y Alturaihi H Yacoub D Liu L Guo W Leveillé C Jung D Khzam LB Merhi Y Wilkins JA Li H Mourad W 《The Journal of biological chemistry》2012,287(22):18055-18066
In addition to its classical CD40 receptor, CD154 also binds to αIIbβ3, α5β1, and αMβ2 integrins. Binding of CD154 to these receptors seems to play a key role in the pathogenic processes of chronic inflammation. This investigation was aimed at analyzing the functional interaction of CD154 with CD40, αIIbβ3, and α5β1 receptors. We found that the binding affinity of CD154 for αIIbβ3 is ~4-fold higher than for α5β1. We also describe the generation of sCD154 mutants that lost their ability to bind CD40 or αIIbβ3 and show that CD154 residues involved in its binding to CD40 or αIIbβ3 are distinct from those implicated in its interaction to α5β1, suggesting that sCD154 may bind simultaneously to different receptors. Indeed, sCD154 can bind simultaneously to CD40 and α5β1 and biologically activate human monocytic U937 cells expressing both receptors. The simultaneous engagement of CD40 and α5β1 activates the mitogen-activated protein kinases, p38, and extracellular signal-related kinases 1/2 and synergizes in the release of inflammatory mediators MMP-2 and -9, suggesting a cross-talk between these receptors. 相似文献
90.
Oliveira FO Alves CR Souza-Silva F Calvet CM Côrtes LM Gonzalez MS Toma L Bouças RI Nader HB Pereira MC 《Parasitology》2012,139(6):735-743
Heparin-binding proteins (HBPs) have been demonstrated in both infective forms of Trypanosoma cruzi and are involved in the recognition and invasion of mammalian cells. In this study, we evaluated the potential biological function of these proteins during the parasite-vector interaction. HBPs, with molecular masses of 65·8 kDa and 59 kDa, were isolated from epimastigotes by heparin affinity chromatography and identified by biotin-conjugated sulfated glycosaminoglycans (GAGs). Surface plasmon resonance biosensor analysis demonstrated stable receptor-ligand binding based on the association and dissociation values. Pre-incubation of epimastigotes with GAGs led to an inhibition of parasite binding to immobilized heparin. Competition assays were performed to evaluate the role of the HBP-GAG interaction in the recognition and adhesion of epimastigotes to midgut epithelial cells of Rhodnius prolixus. Epithelial cells pre-incubated with HBPs yielded a 3·8-fold inhibition in the adhesion of epimastigotes. The pre-treatment of epimastigotes with heparin, heparan sulfate and chondroitin sulfate significantly inhibited parasite adhesion to midgut epithelial cells, which was confirmed by scanning electron microscopy. We provide evidence that heparin-binding proteins are found on the surface of T. cruzi epimastigotes and demonstrate their key role in the recognition of sulfated GAGs on the surface of midgut epithelial cells of the insect vector. 相似文献