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排序方式: 共有175条查询结果,搜索用时 31 毫秒
1.
Ruxandra Ion L. Telvi Jean-Louis Chaussain Jacques Patrick Barbet Manoel Nunes Anne Safar Marie-Odile Réthoré Marc Fellous Ken McElreavey 《Human genetics》1998,102(2):151-156
In 46,XY individuals, testes are determined by the activity of the SRY gene (sex-determining region Y), located on the short arm of the Ychromosome. The other genetic components of the cascade
that leads to testis formation are unknown and may be located on the Xchromosome or on the autosomes. Evidence for the existence
of several loci associated with failure of male sexual development is indicated by reports of 46,XY gonadal dysgenesis associated
with structural abnormalities of the Xchromosome or of autosomes (chromosomes9, 10, 11 and 17). In this report, we describe
the investigation of a child presenting with multiple congenital abnormalities, mental retardation and partial testicular
failure. The patient had a homogeneous de novo 46,XY,inv dup(9)(pter→p24.1::p21.1 →p23.3::p24.1→qter) chromosome complement.
No deletion was found by either cytogenetic or molecular analysis. The SRY gene and DSS region showed no abnormalities. Southern blotting dosage analysis with 9p probes and fluorescent in situ hybridisation data
indicated that the distal breakpoint of the duplicated fragment was located at 9p24.1, proximal to the SNF2 gene. We therefore suggest that a gene involved in normal testicular development and/or maintenance is present at this position
on chromosome 9.
Received: 20 January 1997 / Accepted: 5 November 1997 相似文献
2.
M O Desbiez J M Frachisse M Thellier 《Comptes rendus des séances de la Société de biologie et de ses filiales》1989,183(6):493-506
Mineral ions are implicated in various events occurring in the transduction of messages in plants, from the reception of the initial signal to the final morphogenetic expression. Ions may be involved also in the possible migration, storage and retrieval of the message. In a number of cases, cellular exchange of Ca2+ have been shown to occur at the reception of a signal. This is the reason why Ca2+ has often been considered as a "second messenger". For the possible message migration, cellular exchanger of Cl-, K+, H+ and Ca2+ are involved in the propagation of a wave of electric depolarization. The mechanisms underlying the possible storage of the message in a plant are still not clearly understood. However, ions such as K+, Na+ and Ca2+ interfere with the retrieval of the stored information. There are some indications that protons are involved in the metabolic reactions responsible for the final morphogenetic expression of the original signal. Moreover, the addition of Li+ ions inhibits, or shifts the latter effects, while the action of Li+ is counterbalanced by increasing the concentration of K+. The particular case of the inhibition of the growth of Bidens hypocotyles following delivering a few needle pricks to the cotyledons has been examined in more details. 相似文献
3.
Cécile Bordarier O. Robain Marie-Odile Rethoré O. Dulac Caroline Dhellemes 《Human genetics》1986,73(4):374-378
Summary An anatomoclinical observation of agyria is reported. The karyotype revealed a partial deletion of the short arm of chromosome 17. The etiology of agyria is reviewed in the light of this chromosomal abnormality. In addition we describe the peculiar pattern of neurons in the cortex: Golgi stain demonstrated many inverted pyramidal cells in the superficial part of the cortical layer. The mechanism of this abnormality is discussed. 相似文献
4.
Maxine B. Nichols Marie-Odile Bancal Michael E. Foley Jeffrey J. Volenec 《Physiologia plantarum》1993,88(2):221-228
Nonstructural carbohydrates were determined in both embryo and endosperm of dormant (nongerminating) and afterripened (germinating) intact caryopses of wild oat ( Avena fatua L.). No changes in endosperm starch or soluble sugar were observed at the onset of germination (18 h). No changes in glucose, fructose, sucrose or starch within dormant or afterripened embryos correlated with onset of visual germination. In afterripened embryos, depletion of raffinose (18 h), stachyose (18 h) and galactose (24 h) was correlated with germination. In contrast, raffinose-family oligosaccharide levels in dormant embryos remained constant for 7 days following imbibition. Germination of isolated dormant embryos on 88 m M galactose-containing media was accompanied by decreased endogenous levels of raffinose and stachyose. Isolated embryos from dormant caryopses incorporated 14 C from 14 C-fructose into both raffinose and stachyose during 24 h of imbibition. In contrast, no 14 C incorporation into stachyose was observed in embryos from afterripened caryopses. No 14 C incorporation into raffinose was observed at 18 and 24 h. When in vitro activities of α galactosidase were measured, no temporal differences between dormant or afterripened caryopses were detected in either embryo or endosperm tissue. Although the mechanism associated with differences in utilization of raffinose and stachyose is yet unidentified, alterations in raffinose-family oligosaccharide metabolism in the embryo appear to be a unique prerequisite for afterripening-induced germination. 相似文献
5.
Mas Eric; Crotte Christian; Lecestre Dominique; Michalski Jean-Claude; Escribano Maria-Juana; Lombardo Dominique; Sadoulet Marie-Odile 《Glycobiology》1997,7(6):745-752
The fetoacinar pancreatic protein (FAP), characterized by themAb J28, is an oncofetal form of bile salt dependent lipase(BSDL), the expression of which is related to pancreatic differentiationand neoplastic processes. Because the J28 epitope, recognizedby imAb J28, is suggested to be dependent upon carbohydrates,we have attempted to gain information about the structure ofthis epitope. Indeed, treatment of FAP with sodium periodateabolished the reactivity of the protein to mAb J28, which demonstratesthe implication of oligosaccharides in the structure of theJ28 epitope. FAP offers both O-linked and N-linked carbohydratestructures, of which, as we have determined, one is involved.Peptides obtained after cyanogen bromide cleavage were desialylatedthen separated by affinity chromatography on an immobilizedpeanut agglutinin agarose column. The peptide retained on thiscolumn carried out the reactivity with the mAb J28. Althoughsome differences in amino acid analysis were observed, the N-terminalsequence of this peptide correlates with that of the C-terminalpart of the enzyme. Carbohydrate analysis of the peptide bearingthe J28 epitope revealed fucose, galactose, N-acetylgalactosamine,N-acetylglucosamine, and N-acetylneuraminic acid. The competitionobserved between mAb J28 and Ulex europaeus I lectin for bindingto the J28 epitope suggested that fucose residue a (12)linked to a galactose residue was implicated in the structureof the J28 epitope. Alternatively, the loss of the mAb J28 reactivityupon treatment of FAP either with bovine kidney or bovine epididymisfucosidase was observed indicating that fucose residues linkedat the 相似文献
6.
We have previously identified an Msp I site at the 5′ end of the rat albumin gene whose undermethylation is necessary but not sufficient for stable albumin expression in rat hepatoma cells [1]. We have also shown that the extinction of albumin expression in somatic hybrids is not the result of methylation at this site, since for two different crosses, rapid extinction was found to occur in the absence of any de novo methylation of the previously active gene[2]. In the present study, we examine albumin expression and albumin gene methylation for independent hybrid clones isolated from crosses between albumin expressing rat hepatoma cells and cells of two different non-expressing lines. The cells from hybrid clones of both crosses are characterized by stable extinction of albumin expression. Moreover, we find that de novo methylation of the “extinguished” albumin gene can occur in somatic hybrids, but only some weeks after the gene has ceased to be expressed. 相似文献
7.
Summary Red cell triose-phosphate isomerase (TPI) was determined, together with other enzymes, in three patients with chromosome 12 abnormalities.In patient No. 1 (trisomy of the segment 12pter 12q12) and in patient No. 2 (trisomy of the segment 12pter 12p12.1), the TPI activity was significantly increased. In patient No. 3 (deletion of the segment 12p11 12p12.2), the TPI activity was in the normal range. These results suggest that the human TPI locus is located on the chromosome 12 short arm, between 12pter and 12p12.2.Directeur de Recherches à l'I.N.S.E.R.M. 相似文献
8.
Angela M. Otto Marie-Odile Ulrich Luis Jimenez de Asua 《Journal of cellular physiology》1981,108(2):145-153
Epidermal growth factor (EGF) stimulates the initiation of DNA synthesis in Swiss 3T3 cells after a constant prereplicative period of 14–15 hours. The final rate of initiation follows apparent first-order kinetics and can thus be quantified by a rate constant k. The value of k can be changed by later additions during the prereplicative period: When cells stimulated by a very low concentration of EGF, alone or with insulin, which results in a relatively low value of k, receive a saturating amount of EGF at 15 hours, then k is markedly increased after 4–6 hours. Insulin alone (up to 200 ng/ml) is unable to set the lag phase, but does have a synergistic effect on the value of k given by EGF. When added at 15 hours, insulin also increases k, but after a delay of 4–6 hours. In contrast, both hydrocortisone and prostaglandin E1 (PGE1) inhibit the stimulation of DNA synthesis by EGF only during the first 8 hours of the prereplicative period of decreasing the value of k. Prostaglandin F2α (PGF2α), which stimulates DNA synthesis in a similar mode as EGF, when added with EGF has a synergistic effect on DNA synthesis. This suggests that EGF and PGF2α, nevertheless, act through different regulatory events. 相似文献
9.
Anne-Laure Fauchais Marie-Claude Lise Pierre Marget Fran?ois-Xavier Lapeybie Holy Bezanahary Clothilde Martel Stéphanie Dumonteil Agnès Sparsa Fabrice Lalloué Kim Ly Marie Essig Elisabeth Vidal Marie-Odile Jauberteau 《PloS one》2013,8(11)
Background
Neurotrophins play a central role in the development and maintenance of the nervous system. However, neurotrophins can also modulate B and T cell proliferation and activation, especially via autocrine loops. We hypothesized that both serum and lymphocytic neurotrophin levels may be deregulated in systemic Lupus erythematosus (SLE) and may reflect clinical symptoms of the disease.Methods
Neurotrophins in the serum (ELISA tests) and lymphocytes (flow cytometry) were measured in 26 SLE patients and 26 control subjects. Th1 (interferon-γ) and Th2 (IL-10) profiles and serum concentration of BAFF were assessed by ELISA in the SLE and control subjects.Findings
We have demonstrated that both NGF and BDNF serum levels are higher in SLE patients than healthy controls (p=0.003 and p<0.001), independently of Th1 or Th2 profiles. Enhanced serum NT-3 levels (p=0.003) were only found in severe lupus flares (i.e. SLEDAI ≥ 10) and significantly correlated with complement activation (decreased CH 50, Γ=-0.28, p=0.03). Furthermore, there was a negative correlation between serum NGF levels and the number of circulating T regulatory cells (Γ=0.48, p=0.01). In circulating B cells, production of both NGF and BDNF was greater in SLE patients than in healthy controls. In particular, the number of NGF-secreting B cells correlated with decreased complement levels (p=0.05). One month after SLE flare treatment, BDNF levels decreased; in contrast, NGF and NT-3 levels remained unchanged.Conclusion
This study demonstrates that serum and B cell levels of both NGF and BDNF are increased in SLE, suggesting that the neurotrophin production pathway is deregulated in this disease. These results must be confirmed in a larger study with naive SLE patients, in order to avoid the potential confounding influence of prior immune-modulating treatments on neurotrophin levels. 相似文献10.
Aureo Banhos Bruno L. Fontes Débora Regina Yogui Mario Henrique Alves Natália Carneiro Ardente Renata Valls Lucas Mendes Barreto Lucas Damásio Átilla Colombo Ferreguetti Andréa Siqueira Carvalho Vitor Roberto Schettino Alexandre Rosa dos Santos Helena Godoy Bergallo Ana Carolina Srbek-Araujo Emilia Patrícia Medici Ariel Canena Arnaud L.J. Desbiez 《Biotropica》2020,52(3):421-426
We report 24 records of giant armadillo roadkill on Brazilian highways in the Cerrado, Pantanal and Amazon biomes illustrating that highways are a threat to this species. However, we also documented the species using underpasses, demonstrating that these structures could help to reduce the risk of roadkill for giant armadillos. 相似文献