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排序方式: 共有866条查询结果,搜索用时 46 毫秒
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2.
L. de F. Formiga L. Poenaru F. Couronne E. Flori J. L. Eibel M. M. Deminatti J. B. Savary J. L. Lai S. Gilgenkrantz M. Pierson 《Human genetics》1988,80(4):401-404
Summary Two cases of interstitial deletion of chromosome 15 with similar clinical features are presented. In one case, assay of hexosaminidase A enabled us to confirm that the structural gene is located between 15q22 and 15q25 and that it is included in the deletion. 相似文献
3.
F Fontaine F Vasseur J B Savary M Menais M Roussel M M Deminatti 《Annales de génétique》1988,31(2):102-104
Prenatal diagnosis of cystic fibrosis was performed with linked DNA probes in a couple with a 1:4 risk. The limits and the future of molecular prenatal diagnosis are discussed. 相似文献
4.
5.
J B Savary F Vasseur M Flactif L Willatt J Lefebvre M A Ferguson-Smith M M Deminatti 《Annales de génétique》1992,35(3):134-139
A derivative Y chromosome was found in a 55-year-old man with Lambert-Eaton paraneoplasic pseudomyastheniform disease. Small testicles, azoospermia were noticed and hormonal level values were as in the Klinefelter syndrome. A 45,X/46,XYp+ mosa?cism was described on peripheral blood lymphocytes. Cytogenetic investigations with R-G-C- and Q-banding have been performed. In situ hybridization with the GMGY 10 DNA probe showed two copies of proximal Yp sequences. Southern blot analyses were performed using the Y DNA probes 27a, 47z, 64a7, 50f2 disclosing specific Yp and Yq sequences from the pseudoautosomal boundary to the Yq proximal portion. The der(Y) has been defined as a dicentric isochromosome for the long arm with one active and one apparently suppressed centromere. The breakpoint leading to the der(Y), has been located in the pairing segment of the Y short arm (i.e. Yp11.32). So the der(Y) was interpreted as a psu dic(Y) (qter-->cen-->p11.32 ::p11.32-->qter). There was thus an almost complete duplication of the Y chromosome. 相似文献
6.
Gerard Berger Guy Girault Jean-Michel Galmiche Stephane Pezennec 《Journal of bioenergetics and biomembranes》1994,26(3):335-346
The influences of total magnesium ion concentration at different total ATP concentrations, and of total ATP concentration, for different total magnesium ion concentrations, on the enzymatic rate of the isolated chloroplast F1 ATPase, have been followed by a chromatographic method consisting in the separation and determination of ADP. From the various series of curves, it is concluded that the experimental results (position of the maxima,K
m
values) are better fitted by a mechanism involving the activation of the enzyme by magnesium ion and hydrolysis of free ATP, rather than by the classical mechanism, for which the enzyme hydrolyzes the MgATP complex and is inhibited by Mg2+. Although the equations giving the reaction rate are similar in the two cases, the calculated values ofK
m
are widely different. The value obtained from the classical mechanism does not agree withK
D
, the dissociation constant of the enzyme-substrate complex, measured by the Hummel and Dreyer method. Moreover, when the total ATP concentration tends toward the total magnesium ion concentration, the nucleotide binding to the enzyme tends toward zero, although it should be maximum if MgATP were the true substrate. Finally, the inhibitory effect of Na+ is more easily explained as a competition between this ion and the activating Mg2+, than by the classical mechanism. 相似文献
7.
Zoran G. Cerovic Maurice Bergher Yves Goulas Stephane Tosti Ismael Moya 《Photosynthesis research》1993,36(3):193-204
A newly developed nitrogen laser fluorimeter insensitive to actinic illumination was used to follow simultaneously the light induced changes in red and blue fluorescence of intact isolated spinach chloroplasts and leaf pieces. The recorded variable blue fluorescence was linked to a water soluble component of intact isolated chloroplasts, depended on Photosystem I, and was related to changes in carbon metabolism. From the comparison of changes in intact and broken chloroplasts and from fluorescence spectra under different conditions, it was concluded that the variation in NADPH was the major cause for the changes in blue fluorescence. This study opens a path towards continuous and non-destructive monitoring of NADPH redox state in chloroplasts and leaves.Abbreviations Chl
chlorophyll
- DHAP
dihydroxyacetone phosphate
- DLGA
DL-glyceraldehyde
- FNR
ferredoxin-NADP reductase
- FWHM
full width at half maximum
- LED
light emitting diodes
- OAA
oxaloacetate
- qN
non-photochemical quenching
- PGA
3-phosphoglycerate
- Pi
inorganic orthophosphate
- qP
photochemical quenching
- PPFD
photosynthetic photon flux density
- QA
primary quinone acceptor of Photosystem II
Preliminary results of this work were presented at the First Conference on the Physiology and Biochemistry of high Mountain Plants, 2–3 July 1992, Villar d'Arene, France. 相似文献
8.
Paul Savary Jean-Christophe Foltête Hervé Moal Gilles Vuidel Stéphane Garnier 《Molecular ecology resources》2023,23(7):1574-1588
In connectivity models, land cover types are assigned cost values characterizing their resistance to species movements. Landscape genetic methods infer these values from the relationship between genetic differentiation and cost distances. The spatial heterogeneity of population sizes, and consequently genetic drift, is rarely included in this inference although it influences genetic differentiation. Similarly, migration rates and population spatial distributions potentially influence this inference. Here, we assessed the reliability of cost value inference under several migration rates, population spatial patterns and degrees of population size heterogeneity. Additionally, we assessed whether considering intra-population variables, here using gravity models, improved the inference when drift is spatially heterogeneous. We simulated several gene flow intensities between populations with varying local sizes and spatial distributions. We then fit gravity models of genetic distances as a function of (i) the ‘true’ cost distances driving simulations or alternative cost distances, and (ii) intra-population variables (population sizes, patch areas). We determined the conditions making the identification of the ‘true’ costs possible and assessed the contribution of intra-population variables to this objective. Overall, the inference ranked cost scenarios reliably in terms of similarity with the ‘true’ scenario (cost distance Mantel correlations), but this ‘true’ scenario rarely provided the best model goodness of fit. Ranking inaccuracies and failures to identify the ‘true’ scenario were more pronounced when migration was very restricted (<4 dispersal events/generation), population sizes were most heterogeneous and some populations were spatially aggregated. In these situations, considering intra-population variables helps identify cost scenarios reliably, thereby improving cost value inference from genetic data. 相似文献
9.
Cuvillier Olivier; Alonso Catherine; Wieruszeski Jean-Michel; Brassart Colette; Strecker Gerard; Bouquelet Stephane; Michalski Jean-Claude 《Glycobiology》1995,5(3):281-289
During a systematic study of carbohydrate material present inhuman meconium, in addition to the previously described mucins,glycolipids and free oligosaccharides, we have now characterizeda significant quantity of free glycoasparagines. These glycoasparagineshave been isolated from human meconium by a combination of ion-exchange,concanavalin A (ConA)-affinity and high-performance liquid (HPLC)chromatographies. Their structures have been established by400 MHz 1H-NMR spectroscopy. These compounds are related toN-acetyllactosaminic type structures and are based on the commoncore These glycoasparagines are probably derived from both proteaseand partial exoglycosidase hydrolysis of fetal gastrointestinalN-glycosyl proteins. Their structures are discussed in the contextof the known catabolic pathways of N-glycans glycoasparagine N-glycosyl protein catabolism meconium NMR 相似文献
10.
Hadjila Chabane Christelle Lamazzi Valerie Thiery Alain Pierre Stephane Leonce Bruno Pfeiffer 《Journal of enzyme inhibition and medicinal chemistry》2013,28(2):167-174
Novel thiazolocarbazole derivatives have been synthesized via the corresponding imino-1,2,3-dithiazoles. In vitro antitumor activity of these polyheterocyclic compounds was studied. 相似文献