排序方式: 共有46条查询结果,搜索用时 15 毫秒
41.
Stuppia L Gatta V Fogh I Gaspari AR Morizio E Mingarelli R Di Santo M Pizzuti A Calabrese G Palka G 《Genomics》2001,72(2):153-157
VCY2 is a gene positioned within the AZFc locus of the Y chromosome, a region frequently deleted in infertile males. To investigate the involvement of this gene in idiopathic male infertility, we studied its genomic organization and localization. Analysis of the genomic structure demonstrated that the VCY2 gene is composed of 9 exons spanning 21 kb. FISH analysis on interphase nuclei with specific probes for exons 4-6, 7, and 8 demonstrated the presence of a single gene copy, and Fiber-FISH on relaxed chromatin indicated that VCY2 is located within the DAZ gene cluster. PCR, Southern blot, and FISH analysis on infertile patients with Yq microdeletions demonstrated the absence of VCY2 in all cases where deletions involved the DAZ gene, raising the question about the role of the VCY2 gene loss in the phenotype reported for DAZ-deleted patients. 相似文献
42.
Roberto Esposito Franco Cilli Valentina Pieramico Antonio Ferretti Antonella Macchia Marco Tommasi Aristide Saggino Domenico Ciavardelli Antonietta Manna Riccardo Navarra Filippo Cieri Liborio Stuppia Armando Tartaro Stefano L. Sensi 《PloS one》2013,8(7)
Background
There is growing debate on the use of drugs that promote cognitive enhancement. Amphetamine-like drugs have been employed as cognitive enhancers, but they show important side effects and induce addiction. In this study, we investigated the use of modafinil which appears to have less side effects compared to other amphetamine-like drugs. We analyzed effects on cognitive performances and brain resting state network activity of 26 healthy young subjects.Methodology
A single dose (100 mg) of modafinil was administered in a double-blind and placebo-controlled study. Both groups were tested for neuropsychological performances with the Raven’s Advanced Progressive Matrices II set (APM) before and three hours after administration of drug or placebo. Resting state functional magnetic resonance (rs-FMRI) was also used, before and after three hours, to investigate changes in the activity of resting state brain networks. Diffusion Tensor Imaging (DTI) was employed to evaluate differences in structural connectivity between the two groups. Protocol ID: Modrest_2011; ; http://clinicaltrials.gov/ct2/show/ NCT01684306. NCT01684306Principal Findings
Results indicate that a single dose of modafinil improves cognitive performance as assessed by APM. Rs-fMRI showed that the drug produces a statistically significant increased activation of Frontal Parietal Control (FPC; p<0.04) and Dorsal Attention (DAN; p<0.04) networks. No modifications in structural connectivity were observed.Conclusions and Significance
Overall, our findings support the notion that modafinil has cognitive enhancing properties and provide functional connectivity data to support these effects.Trial Registration
ClinicalTrials.gov http://clinicaltrials.gov/ct2/show/ NCT01684306. NCT01684306相似文献43.
Impact of lysosomal storage disorders on biology of mesenchymal stem cells: Evidences from in vitro silencing of glucocerebrosidase (GBA) and alpha‐galactosidase A (GLA) enzymes
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44.
L Stuppia G Calabrese P Guanciali Franchi L Ferrucci G Palka 《Basic and applied histochemistry》1987,31(4):487-492
Experiments were performed on fixed metaphase chromosomes using standard techniques for revealing paracentromeric heterochromatin (C bands) followed by staining with acridine orange with the aim of studying C-banding mechanism. Data obtained suggest that the specific resistance to the chemical-physical treatments of the heterochromatic areas is a consequence of the particular structural conditions that the C-positive material shows only after its early renaturation. 相似文献
45.
Liborio Stuppia Giuseppe Calabrese Paolo Guanciali Franchi Rita Mingarelli Elisena Morizio Giuseppe Sabatino Giandomenico Palka 《Human genetics》1996,98(6):691-695
Three patients carrying an isodicentric (idic) Y chromosome associated with a mosaic 45,X cell line were studied using molecular
techniques. Genotype-phenotype correlations suggested an effect of the 45,X cell line on sexual differentiation. A relationship
was established between instability of the idic(Y) chromosome and localization of the breakpoint on Yq, and between azoospermia
and deletion of interval 6 on Yq.
Received: 31 May 1996 / Revised: 12 July 1996 相似文献
46.
L Stuppia P Guanciali Franchi G Calabrese G Parruti G Palka U Bianchi 《Basic and applied histochemistry》1990,34(2):119-125
The authors report on the activity of Hinf I restriction endonuclease on human fixed metaphase chromosomes. Experiments performed by digesting chromosomes just after harvesting or after ageing in methanol-acetic acid displayed a different pattern of digestion on metaphases, since only aged preparations showed gaps on heterochromatic regions of chromosomes 1, 9 and 16 and C-like bands on other chromosomes. In this view, the authors suggest that structural modifications of the DNA, induced by acid fixation, can influence Hinf I activity on fixed metaphase chromosomes. 相似文献