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61.
Kwapisz M Smagowicz WJ Oficjalska D Hatin I Rousset JP Zoładek T Boguta M 《Current genetics》2002,42(3):147-152
Maf1p is a negative effector of RNA polymerase III in yeast. The maf1-delta mutation caused an increase in the level of cellular tRNAs, but a decrease of translational readthrough at nonsense codons. Using the lacZ- luc dual gene reporter system, we detected an almost twofold diminution of UAA and UAG readthrough in maf1-delta compared with the parental strain. The maf1-delta mutation did not affect the rate of protein biosynthesis and growth at standard conditions, but resulted in temperature-sensitive growth on non-fermentable carbon sources. We examined the correlation of the temperature sensitive and antisuppression phenotypes of maf1- Delta using a colour phenotype assay in the ade2-1 SUP11 strain. Antisuppression, but not the temperature-sensitive growth defect, was compensated either by increased dosage of SUP11or by [PSI(+)], the prion form of the translation termination factor Sup35p. Summarizing, the elevated tRNA levels in maf1- Delta increase translational fidelity and, independently, affect growth under special conditions. 相似文献
62.
Pongracz J Parnell S Anderson G Jaffrézou JP Jenkinson E 《Molecular immunology》2003,39(16):1013-1023
While low avidity ligation of the T cell receptor (TCR) leads to positive selection and further maturation of developing thymocytes providing the immune system with mature CD4(+) and CD8(+) (single positive) T cells, high avidity ligation triggers negative selection by apoptotic cell death and therefore the TCR repertoire is purged of autoreactive T cells. On peripheral T cells, however, high avidity ligation of the TCR triggers activation and survival not death. In the present study we used concanavalin A (Con A) and alpha-CD3 epsilon antibody to investigate a possible survival mechanism in connection with TCR ligation. Con A and alpha-CD3 epsilon were used in the study for the following reasons: (1) they both mimic the effects of high avidity TCR ligation by activating peripheral T cells, and (2) they trigger distinctively different physiological changes in developing thymocytes. While Con A supports events associated with cellular survival, alpha-CD3 epsilon induces apoptotic cell death. In our experimental system the TCR was cross-linked by Con A and alpha-CD3 epsilon in thymocytes of major histocompatibility complex (MHC) deficient thymus organ cultures, where signals from the TCR can be triggered on zero background signal level. We have found that TCR cross-linking by Con A and not by alpha-CD3 epsilon decreases the gene and protein expression of the pro-apoptotic molecule, Bad; and that Con A is capable of the activation of the survival signalling pathway including protein kinase B (Akt/PKB) independently of phosphatidyl inositol kinase (PI3K). 相似文献
63.
Loubinoux J Rio B Mihaila L Foïs E Le Fleche A Grimont PA Marie JP Bouvet A 《Journal of clinical microbiology》2005,43(7):3564-3566
A yellow-pigmented rod- to coccoid-shaped coryneform microorganism was isolated from the blood of a patient with acute myeloid leukemia. It was identified by 16S rRNA gene sequencing as a previously undescribed species of Janibacter. The isolate was susceptible to penicillins, aminoglycosides, fluoroquinolones, and glycopeptides. 相似文献
64.
Jean-Pierre Pouilly Michel Chatagnon Vincent Thomas Thierry Busso 《Revue canadienne de physiologie appliquée》2005,30(6):735-742
This study aimed to estimate the power/time relationship from a single ramp test (RT) assuming critical power (Pc) from ventilatory threshold (VT) and energy reserve (W') from total work during RT These estimates from single RT were compared to those from a series of 4 constant power exercises (CPT) and from a series of 4 RT. Only W' from CPT was higher than from the series of RT and from single RT using VT (p < 0.05). 相似文献
65.
Alain Verloes Paul Jamblin Lucien Koulischer Jean-Pierre Bourguignon 《Clinical genetics》1996,49(1):2-5
We report two patients, born of consanguineous parents, affected by a disorder resulting in mild growth retardation. Hallmarks are amelogenesis imperfecta (absence of the enamel cap) associated with brachyolmia-like anomalies: platyspondyly with short pedicles, narrow intervertebral and interpedicular distances, rectangular-shaped vertebrae with posterior scalloping and herniation of the nuclei, and broad femoral necks. Inheritance appears to be autosomal recessive. 相似文献
66.
Denis Couvret Jean-Claude Brosse Sammy Chevalier Jean-Pierre Senet 《Macromolecular chemistry and physics.》1990,191(6):1311-1319
Acrylic monomers with a cyclic carbonate function, their synthesis having been described previously, are used to synthesize copolymers with pendent cyclic carbonate side groups. Their chemical modification by ring opening addition reactions provides a convenient method for preparing functional polymers. The study of reactions with amines, on model compounds and on polymers, shows the possibility of obtaining a macromolecular network with crosslinking groups of carbamate type. 相似文献
67.
Alain Verloes Martine Le Merrer Jean-Pierre Farriaux Pierre Maroteaux 《Clinical genetics》1991,39(5):362-369
Based on two independent personal cases and a pair of sibs from the literature, we delineate a new category of bone dysplasia with cup-shaped large metaphyses, for which the name metaphyseal acroscyphodysplasia is suggested. The main clinical features are severe growth retardation, micromelia predominating in the lower limbs, knee flexion, and severe brachydactyly. The radiological aspect of the knees is very specific: the lower femoral and upper tibial epiphyses embed themselves in their metaphyses, which are severely cup-shaped. Premature central epiphyso-metaphyseal fusion and gross deformation, or even coalescence, of the femoral condyles may occur. The femoral diaphyses are very short and broad, and there is progressive coxa valga. Bowed and/or short stubby tibiae with cone-shaped metaphyses, and varus deformity of the tibio-astragalian joint are other features. Slight deformations of the long bones occur in the upper limb. Severe brachydactyly, brachymesophalangy, phalangeal and metacarpal cone-shaped epiphyses and irregular, bent and shortened diaphyses are the main signs of hand involvement. Psychomotor retardation is present in 3/4. Autosomal recessive inheritance is likely. 相似文献
68.
de Ravel TJ Taylor IB Van Oostveldt AJ Fryns JP Wilkie AO 《European journal of human genetics : EJHG》2005,13(4):503-505
We report a family heterozygous for a newly identified mutation in the tyrosine kinase I domain of the FGFR2 gene (1576A > G, encoding the missense substitution Lys526Glu), associated with variable expressivity of Crouzon syndrome, including clinical nonpenetrance. Our observations expand both the clinical and molecular spectrum of this unusual subset of FGFR2 mutations. 相似文献
69.
Philippe Bahadoran Frdric Rieux-Laucat Franoise Le Deist Stphane Blanche Alain Fischer Jean-Pierre de Villartay 《European journal of immunology》1993,23(8):2041-2044
To investigate the possibility of superantigen-mediated deletions of T cells expressing particular T cell receptor Vβ (TcR Vβ) gene segments during human immunodeficiency virus (HIV) infection, TcR Vp usage in CD4+ and CD8+ subsets was analyzed in a cohort of infants maternally infected by HIV and in a group of healthy neonates. We used a semi-quantitative anchored polymerase chain reaction technique together with cytofluorographic analysis with anti-Vβ monoclonal antibodies. The representation of the 24 vβ families in CD4+ and CD8+ T cells from normal neonates was very similar to that in adults. Preferential expression of Vβ2 in the CD4+ subset was observed in both the neonates and in healthy adults. The representation of the 24 Vβ families in peripheral CD4+ T cells from the HIV-infected infants showed no selective vβ deletion, even when the CD4+ subset was globally depleted. Moreover, the main characteristics of the control group (predominance of certain Vβ families and Vβ2 skewing towards the CD4+ subset) were also present in all the HIV-infected infants. 相似文献
70.
Molina TJ Delmer A Cymbalista F Le Tourneau A Perrot JY Ramond S Marie JP Audouin J Zittoun R Diebold J 《Virchows Archiv : an international journal of pathology》2000,437(6):591-598
Mantle cell lymphoma (MCL) is a well-defined peripheral B-cell lymphoma usually diagnosed upon peripheral lymph node biopsy. We report eight cases of peripheral B-cell leukaemia that demonstrate presumptive evidence of mantle cell characteristics. The patients had a median age of 68.5 years, and five were male. All presented with an enlarged spleen without any peripheral lymphadenopathies, and they were leukaemic at presentation (median lymphocytosis, 38x10(9)/l). Morphological diagnosis of MCL was very difficult in five cases but easier in three because we were able to analyse either pre- or post-mortem lymph nodes and spleen. The immunophenotype of blood lymphocytosis using flow cytometry, the presence of a t(11;14)(q13;q32) and a cyclin D1 expression by leukaemic cells all fit with the diagnosis of MCL. All patients progressed and died with a median overall survival of 8 months. Multifocal areas of transformation in blastoid or large cell variants were observed in the three autopsied patients. In summary, one should consider the diagnosis of MCL at presentation in leukaemic phase even in the absence of peripheral adenopathies. 相似文献