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11.
Bel Hadj Ali I Thys M Beltaief N Schrauwen I Hilgert N Vanderstraeten K Dieltjens N Mnif E Hachicha S Besbes G Ben Arab S Van Camp G 《Human genetics》2008,123(3):267-272
Otosclerosis is a common disorder of the otic capsule resulting in hearing impairment in 0.3–0.4% of the Caucasian population.
The aetiology of the disease remains unclear. In most cases, otosclerosis can be considered as a complex disease. In some
cases, the disease is inherited as an autosomal dominant trait, sometimes with reduced penetrance. To date, seven autosomal
dominant loci have been reported, but none of the disease-causing genes has been identified. In this study, we present the
results of a genome-wide linkage analysis in a large Tunisian family segregating autosomal dominant otosclerosis. Linkage
analysis localised the responsible gene to chromosome 9p13.1-9q21.11 with a maximal LOD score of 4.13, and this locus was
named OTSC8. Using newly generated short tandem repeat polymorphism markers, we mapped this new otosclerosis locus to a 34.16 Mb interval
between the markers D9S970 and D9S1799. This region comprises the pericentromeric region on both arms of chromosome 9, a highly
complex region containing many duplicated sequences.
Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorized users. 相似文献
12.
Mourad Hadj Slimen Hammadi Fakhfakh Mohamed Gassara Sofiane Kechaou Ali Bahloul Mohamed Nabil Mhiri 《Andrologie》2008,18(4):264-273
Introduction
Priapism is a prolonged, painful and persistent erection, unrelated to sexual stimulation. The management of priapism is complex and requires various medical or surgical treatments. The authors review the aetiology, treatment and outcome of priapism.Material and methods
26 cases of low-flow priapism were collected over a period of 23 years (1985–2007), corresponding to 22 adults and 4 children (average age: 32 years) with various types of priapism. The time to appropriate management after onset of priapism varied according to the aetiology and the time to consultation (range: 16 hours to 15 days).Results
Complete and persistent detumescence for the first 24 hours was obtained in 84% of cases, sometimes with multiple successive procedures. No case of early recurrence was observed. 21 patients were regularly followed for a period of 3 months to 10 years (mean follow-up: 2 years). There were 9 (42.9%) successes (recovery of normal erectile function), 4 partial results (19%) and 9 (30.1%) failures (complete erectile dysfunction).Conclusion
Low-flow priapism must be considered to be a serious andrological emergency. Medical treatment can be effective in early forms, but surgery must not be delayed to prevent permanent erectile dysfunction secondary to extensive corpora cavernosa fibrosis. 相似文献13.
Abdelali Agouni Anne-Hélène Lagrue-Lak-Hal Hadj Ahmed Mostefai Angela Tesse Paul Mulder Philippe Rouet Franck Desmoulin Christophe Heymes Maria Carmen Martínez Ramaroson Andriantsitohaina 《PloS one》2009,4(5)
Background
Obesity is associated with increased risks for development of cardiovascular diseases. Epidemiological studies report an inverse association between dietary flavonoid consumption and mortality from cardiovascular diseases. We studied the potential beneficial effects of dietary supplementation of red wine polyphenol extract, Provinols™, on obesity-associated alterations with respect to metabolic disturbances and cardiovascular functions in Zucker fatty (ZF) rats.Methodology/Principal Findings
ZF rats or their lean littermates received normal diet or supplemented with Provinols™ for 8 weeks. Provinols™ improved glucose metabolism by reducing plasma glucose and fructosamine in ZF rats. Moreover, it reduced circulating triglycerides and total cholesterol as well as LDL-cholesterol in ZF rats. Echocardiography measurements demonstrated that Provinols™ improved cardiac performance as evidenced by an increase in left ventricular fractional shortening and cardiac output associated with decreased peripheral arterial resistances in ZF rats. Regarding vascular function, Provinols™ corrected endothelial dysfunction in aortas from ZF rats by improving endothelium-dependent relaxation in response to acetylcholine (Ach). Provinols™ enhanced NO bioavailability resulting from increased nitric oxide (NO) production through enhanced endothelial NO-synthase (eNOS) activity and reduced superoxide anion release via decreased expression of NADPH oxidase membrane sub-unit, Nox-1. In small mesenteric arteries, although Provinols™ did not affect the endothelium-dependent response to Ach; it enhanced the endothelial-derived hyperpolarizing factor component of the response.Conclusions/Significance
Use of red wine polyphenols may be a potential mechanism for prevention of cardiovascular and metabolic alterations associated with obesity. 相似文献14.
Noomen Hmidet Nedra El Hadj Ali Nahed Zouari-Fakhfakh Anissa Haddar Moncef Nasri Alya Sellemi-Kamoun 《Journal of industrial microbiology & biotechnology》2010,37(9):983-990
This study is concerned with the co-production of alkaline proteases and thermostable α-amylase by some feather-degrading
Bacillus strains: B. mojavensis A21, B. licheniformis NH1, B. subtilis A26, B. amyloliquefaciens An6 and B. pumilus A1. All strains produced both enzymes, except B. pumilus A1, which did not exhibit amylolytic activity. The best enzyme co-production was obtained by the NH1 strain when chicken
feathers were used as nitrogen and carbon sources in the fermentation medium. The higher co-production of both enzymes by
B. licheniformis NH1 strain was achieved in the presence of 7.5 g/l chicken feathers and 1 g/l yeast extract. Strong catabolic repression
on protease and α-amylase production was observed with glucose. Addition of 0.5% glucose to the feather medium suppressed
enzyme production by B. licheniformis NH1. The growth of B. licheniformis NH1 using chicken feathers as nitrogen and carbon sources resulted in its complete degradation after 24 h of incubation at
37°C. However, maximum protease and amylase activities were attained after 30 h and 48 h, respectively. Proteolytic activity
profiles of NH1 enzymatic preparation grown on chicken feather or casein-based medium are different. As far as we know, this
is the first contribution towards the co-production of α-amylase and proteases using keratinous waste. Strain NH1 shows potential
use for biotechnological processes involving keratin hydrolysis and industrial α-amylase and proteases co-production. Thus,
the utilization of chicken feathers may result in a cost-effective process suitable for large-scale production. 相似文献
15.
Mezghani N Mnif M Kacem M Mkaouar-Rebai E Hadj Salem I Kallel N Charfi N Abid M Fakhfakh F 《Biochemical and biophysical research communications》2011,407(4):747-752
Mitochondrial encephalopathy, lactic acidosis and strokelike episodes (MELAS) syndrome is a mitochondrial disorder characterized by a wide variety of clinical presentations and a multisystemic organ involvement. In this study, we report a Tunisian girl with clinical features of MELAS syndrome who was negative for the common m.3243A>G mutation, but also for the reported mitochondrial DNA (mtDNA) mutations and deletions. Screening of the entire mtDNA genome showed several known mitochondrial variants besides to a novel transition m.1640A>G affecting a wobble adenine in the anticodon stem region of the tRNA(Val). This nucleotide was conserved and it was absent in 150 controls suggesting its pathogenicity. In addition, no mutations were found in the nuclear polymerase gamma-1 gene (POLG1). These results suggest further investigation nuclear genes encoding proteins responsible for stability and structural components of the mtDNA or to the oxidative phosphorylation machinery to explain the phenotypic variability in the studied family. 相似文献
16.
Lakhdar Ghazouani Nesrine Abboud Sonia Ben Hadj Khalifa Claire Perret Viviane Nicaud Wassim Youssef Almawi François Cambien Touhami Mahjoub 《Molecular biology reports》2011,38(1):495-501
P-selectin (SELP) and its counter-receptor, P-selectin glycoprotein ligand-1 (PSGL-1), play key role in the transient attachment
of leukocytes to endothelial cells predisposing to coronary heart disease (CHD). In the current report, 293 angiographically
proven CHD patients and 327 age, gender, and race-matched controls were included. Our aim was to evaluate the contribution
to CHD of the following SNPs: C-2123G, G-1969A and T715P in SELP, Met62Ile and the VNTR variants in PSGL-1 gene in a North African population from Tunisia. While there were no significant differences in the distribution of SELP
or PSGL-1 alleles or genotypes between patients and controls, a trend for a significant association of the C-2123G genotypes
distribution with incident CHD was observed (P = 0.06). Assuming an additive model of transmission, the risk was 74% higher among subjects carrying the GG genotypes in
comparison to those carrying the CC genotype (OR = 1.74 [1.01–2.98], P = 0.04) and 80% higher in the recessive model (OR = 1.80 [1.08–3.01], P = 0.02). Haplotype analysis did not identify any specific SELP or PSGL-1 haplotypes to be associated with CHD. The present
study demonstrated no evidence of association between individual SELP or PSGL-1 SNPs or haplotypes with incident CHD. However,
this study replicates absence of association of the mostly studied SNP, T715P, previously reported in individuals with African
origin. 相似文献
17.
Summary The influence of initial concentration of glucose from 60 to 233 g/l on the production of L-lysine byCorynebacterium sp was studied first in batch culture. The maximum conversion rate into L-lysine was obtained at 165 g/l and the best specific production rate for L-lysine was observed at 65 g/l of glucose. In fed-batch fermentations, better conversion and the specific production rates were obtained. Maintaining of a high glucose concentration in the fed-batch technique allowed a 54% increase of the L-lysine production compared to the batch culture. 相似文献
18.
N B El Hadj M R Popoff J C Marvaud B Payrastre P Boquet B Geny 《The Journal of biological chemistry》1999,274(20):14021-14031
Lethal toxin (LT) from Clostridium sordellii has been shown in HeLa cells to glucosylate and inactivate Ras and Rac and, hence, to disorganize the actin cytoskeleton. In the present work, we demonstrate that LT treatment provokes the same effects in HL-60 cells. We show that guanosine 5'-O-(3-thiotriphosphate)-stimulated phospholipase D (PLD) activity is inhibited in a time- and dose-dependent manner after an overnight treatment with LT. A similar dose response to the toxin was found when PLD activity was stimulated by phorbol 12-myristate 13-acetate via the protein kinase C pathway. The toxin effect on actin organization seemed unlikely to account directly for PLD inhibition as cytochalasin D and iota toxin from Clostridium perfringens E disorganize the actin cytoskeleton without modifying PLD activity. However, the enzyme inhibition and actin cytoskeleton disorganization could both be related to a major decrease observed in phosphatidylinositol 4,5-bisphosphate (PtdIns(4, 5)P2). Likely in a relationship with this decrease, recombinant ADP-ribosylation factor, RhoA, Rac, and RalA were not able to reconstitute PLD activity in LT-treated cells permeabilized and depleted of cytosol. Studies of phosphoinositide kinase activities did not allow us to attribute the decrease in PtdIns(4,5)P2 to inactivation of PtdIns4P 5-kinase. LT was also found to provoke a major inhibition in phosphatidylinositol 3-kinase that could not account for the inhibition of PLD activity because wortmannin, at doses that fully inhibit phosphatidylinositol 3-kinase, had no effect on the phospholipase activity. Among the three small G-proteins, Ras, Rac, and RalA, inactivated by LT and involved in PLD regulation, inactivation of Ral proteins appeared to be responsible for PLD inhibition as LT toxin (strain 9048) unable to glucosylate Ral proteins did not modify PLD activity. In HL-60 cells, LT treatment appeared also to modify cytosol components in relationship with PLD inhibition as a cytosol prepared from LT-treated cells was less efficient than one from control HL-60 cells in stimulating PLD activity. Phosphatidylinositol transfer proteins involved in the regulation of polyphosphoinositides and ADP-ribosylation factor, a major cytosolic PLD activator in HL-60 cells, were unchanged, whereas the level of cytosolic protein kinase Calpha was decreased after LT treatment. We conclude that in HL-60 cells, lethal toxin from C. sordellii, in inactivating small G-proteins involved in PLD regulation, provokes major modifications at the membrane and the cytosol levels that participate in the inhibition of PLD activity. Although Ral appeared to play an essential role in PLD activity, we discuss the role of other small G-proteins inactivated by LT in the different modifications observed in HL-60 cells. 相似文献
19.
J. Lornage S. Giscard D’estaing H. Lejeune M. Benchaib D. Cottinet B. Salle D. Boulieu V. Bied-Damon S. Hadj J. F. Guerin 《Andrologie》2001,11(3):127-132
The prognosis of severe male sterility (nonobstructive azoospermia) has considerably improved over recent years with the introduction of ICSI. The human reproduction biologist actively collaborates with the surgeon in the search for and extraction of sperm from testicular tissue (TESE). The presence of the biologist during surgery is mandatory to guide exploration and to avoid an excessive number of biopsies. Sperm extraction is performed in the laboratory by mechanical extraction with fine forceps. Enzymatic extraction with collagenase IV can be used in cases of nonobstructive azoospermia to optimize tissue dispersion and to improve retrieval of mature cells. The use of only one fraction (50%) of Pure Sperm (JC Diffusion, Lyon France) limits the loss of spermatozoa. to optimize the results in cases of akinesia, it may be useful to induce sperm motility by pentoxifylline or perform in vitro culture for three days. Sperm cryopreservation is compulsory in the case of nonobstructive azoospermia. This allows programming of TESE for a different time from that of ICSI. All results obtained with cryopreserved testicular sperm, in recent years, are encouraging. It is also recommended to freeze several small fractions of sperm in order to limit the number of surgical procedures on the testicle. This article presents the results of our experience in 36 cases of nonobstructive azoospermia. Extraction was negative in 13 cases (36%), similar to the rate reported in the literature. 相似文献
20.
El Hadj Driche Saïd Belghit Christian Bijani Abdelghani Zitouni Nasserdine Sabaou Florence Mathieu Boubekeur Badji 《Annals of microbiology》2015,65(3):1341-1350
An actinomycete strain designated G60 was isolated from a Saharan soil sample in Ghardaïa, Algeria, by a dilution agar plating method using chitin-vitamin agar medium supplemented with penicillin. Morphological and chemical studies indicated that this strain belonged to the genus Streptomyces. Analysis of the 16S rDNA sequence showed an identity level within Streptomyces species, with S. coerulescens ISP 5146T and S. bellus ISP 5185T the most closely related (100 % for each). However, the comparison of the morphological and physiological characteristics of the strain with those of the two nearest species showed significant differences. Strain G60 had a very strong activity against pathogenic staphylococci, including methicillin-resistant Staphylococcus aureus (MRSA) ATCC 43300, other clinical isolates of MRSA and vancomycin resistant S. aureus (VRSA) S1. One antimicrobial compound was extracted by n-hexane from the ISP2 culture medium at 5 days of fermentation culture and purified by HPLC. The chemical structure of the compound was determined after spectroscopic (1H NMR, 13C NMR, 1H-1H COSY and 1H-13C HMBC spectra), and spectrometric (mass spectrum) analyses. The bioactive compound was identified as di-(2-ethylhexyl) phthalate. 相似文献