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11.
Aureli M Loberto N Bassi R Ferraretto A Perego S Lanteri P Chigorno V Sonnino S Prinetti A 《Neurochemical research》2012,37(6):1296-1307
In this paper, we show that the pH optimum for the plasma membrane (PM)-associated activity of four glycohydrolases (conduritol
B epoxide sensitive β-glucosidase, β-glucosidase GBA2, β-hexosaminidase and β-galactosidase) measured on intact cells is acidic.
Moreover, we show that drugs able to modify the efflux of protons across the PM, thus locally affecting the extracellular
proton concentration close to the PM, are able to modulate the activities of these enzymes. These data strongly suggest that
pH-dependent modulation of PM-associated glycohydrolases activities could be an effective way to locally modulate the cell
surface glycoconjugate composition. 相似文献
12.
Aureli M Gritti A Bassi R Loberto N Ricca A Chigorno V Prinetti A Sonnino S 《Neurochemical research》2012,37(6):1344-1354
The activities of plasma membrane associated sialidase Neu3, total β-glucosidase, CBE-sensitive β-glucosidase, non-lysosomal
β-glucosyl ceramidase GBA2, β-galactosidase, β-hexosaminidase and sphingomyelinase were determined at three different stages
of differentiation of murine neural stem cell cultures, corresponding to precursors, commited progenitors, and differentiated
cells. Cell immunostaining for specific markers of the differentiation process, performed after 7 days in culture in presence
of differentiating agents, clearly showed the presence of oligodendrocytes, astrocytes and neurons. Glial cells were the most
abundant. Sialidase Neu3 after a decrease from progenitors to precursors, showed an increase parallel to the differentiation
process. All the other glycosidases increased their activity along differentiation. The activity of CBE-sensitive β-glucosidase
and GBA2 were very similar at the precursor stage, but CBE-sensitive β-glucosidase increased 7 times while GBA2 only two in
the differentiated cells. In addition, we analysed also sphingomyelinase as enzyme specifically associated to sphingolipids.
The activity of this enzyme increased from precursors to differentiated cells. 相似文献
13.
Deletions of the short arm of chromosome 2 are exceedingly rare, having been reported in few patients. Furthermore most cases with deletion in 2p11.2-p12 have been studied using standard karyotype and so it is not possible to delineate the precise size of deletions.Here, we describe a 9-year-old girl with a 9.4 Mb de novo interstitial deletion of region 2p11.2-p12 identified by SNP array analysis.The deleted region encompasses over 40 known genes, including LRRTM1, CTNNA2 and REEP1, haploinsufficiency of which could explain some clinical features of this patient such as mental retardation, speech delay and gait abnormalities.A comparison of our case with previously reported patients who present deletions in 2p11.2-p12 was carried out.Our case adds new information to the deletion of 2p11.2-p12, improving the knowledge on this rearrangement. 相似文献
14.
Alessandra Fierabracci Carla Bizzarri Alessia Palma Annamaria Milillo Emanuele Bellacchio Marco Cappa 《Gene》2012
Background
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) is an autosomal recessive disease due to mutations of the autoimmune regulator (AIRE) gene. Typical manifestations include candidiasis, Addison's disease, and hypoparathyroidism. Type 1 diabetes, alopecia, vitiligo, ectodermal dystrophy, celiac disease and other intestinal dysfunctions, chronic atrophic gastritis, chronic active hepatitis, autoimmune thyroid disorders, pernicious anemia and premature ovarian failure are other rare associated diseases although other conditions have been associated with APECED.Case presentation
What follows is the clinical, endocrinological and molecular data of a female APECED patient coming from Lithuania. The patient was affected by chronic mucocutaneous candidiasis, hypoparathyroidism and pre-clinical Addison's disease. Using direct sequencing of all the 14 exons of the AIRE gene in the patient's DNA, we identified in exon 6 the known mutation c.769 C>T (p.Arg257X) in compound heterozygosity with the newly discovered mutation c.1214delC (p.Pro405fs) in exon 10. The novel mutation results in a frameshift that is predicted to alter the sequence of the protein starting from amino acid 405 as well as to cause its premature truncation, therefore a non-functional Aire protein.Conclusions
A novel mutation has been described in a patient with APECED with classical clinical components, found in compound heterozygosity with the c.769 C>T variation. Expanded epidemiological investigations based on AIRE gene sequencing are necessary to verify the relevancy of the novel mutation to APECED etiopathogenesis in the Lithuanian population and to prove its diagnostic efficacy in association with clinical and immunological findings. 相似文献15.
Pesi R Camici M Micheli V Notarantonio L Jacomelli G Tozzi MG 《Neurochemical research》2008,33(1):59-65
Nucleoside monophosphate phosphohydrolases comprise a family of enzymes dephosphorylating nucleotides both in intracellular
and extracellular compartments. Members of this family exhibit different sequence, location, substrate specificity and regulation.
Besides the ectosolic 5′-nucleotidase, several cytosolic and one mitochondrial enzymes have been described. Nevertheless,
researchers refer any AMP-dephosphorylating activity to as 5′-nucleotidase, lacking a more accurate identification. Increase
of AMP hydrolysing activity has been associated with neurological and developmental disorders. The identification of the specific
enzyme involved in these pathologies would be fundamental for the comprehension of the linkage between the enzyme activity
alteration and brain functions. We demonstrate that the described neurological symptoms are associated with increased ectosolic
5′-nucleotidase activity on the basis of radiochemical assays and immunoblotting analysis. Furthermore, present data evidence
that the assay conditions normally applied for the determination of cytosolic 5′-nucleotidases activity in crude extracts
are affected by the presence of solubilised ectosolic nucleotidase. 相似文献
16.
Laura Mauri Simona Prioni Nicoletta Loberto Vanna Chigorno Alessandro Prinetti Sandro Sonnino 《Glycoconjugate journal》2003,20(1):11-23
The procedures for the preparation of radioactive and photoactivable ganglioside derivatives have been continuously developed
from 1989, when for the first time the synthesis of photoactivable tritium labeled GM1 ganglioside was presented. We described
previously the synthesis of photoactivable derivatives of GM3 and GM1 gangliosides, tritium-labeled at acetyl group of sugar
units, and of photoactivable GM1 and GD1b gangliosides, tritium-labeled at position 6 of the external galactose. These procedures
are reviewed in detail in the present paper.
The use of these ganglioside derivatives to study the ganglioside-protein interactions and to identify proteins that specifically
interact with gangliosides (including GPI-anchored proteins of the outer membrane leaflet, proteins anchored to the cytoplasmic
side of the plasma membrane through a fatty acyl chain, transmembrane proteins, and soluble cytoplasmic proteins) is discussed.
Published in 2004.
This revised version was published online in August 2006 with corrections to the Cover Date. 相似文献
17.
Vanna Geromel Noman Kadhom Ir ne Ceballos-Picot Dominique Chr tien Arnold Munnich Agn s R tig Pierre Rustin 《Free radical research》2001,35(1):11-21
Beside its role in electron transfer in the mitochondrial respiratory chain, ubiquinone is known to prevent lipid peroxidation and DNA damage by trapping cellular free radicals. Thanks to its antioxidant properties, ubiquinone may represent an important factor controlling both necrotic and apoptotic processes. We have investigated the consequences of a profound inherited ubiquinone depletion on cultured skin fibroblasts of a patient presenting with encephalomyopathy. Interestingly, cell respiration, mitochondrial oxidation of various substrates, and cell growth of ubiquinone-deficient fibroblasts were only partially decreased. Moreover, these cells did not apparently overproduce superoxide anions or lipoperoxides. Finally, apoptosis did not increase as compared to control, even after serum deprivation. These observations suggest that ubiquinone may not play a major role in the antioxidant defenses of cultured fibroblasts and that its role in controlling oxidative stress and apoptosis may greatly vary across cell types, especially as not all tissues were equally affected in the patient despite the widespread ubiquinone depletion in vivo. 相似文献
18.
Mammalian cardiac muscle is a remarkably heterogeneous tissue, as judged from enzyme analysis of tissue from different myocardial layers of the left ventricle free-wall. Its diversity results from a spectrum of fibres with different metabolic properties and different location across the wall, which may be especially suited to the local range of functional demands. 相似文献
19.
Vanna Fierabracci Pellegrino Masiello Michela Novelli Ettore Bergamini 《Journal of chromatography. B, Analytical technologies in the biomedical and life sciences》1991,570(2):285-291
An amino acid analysis by reversed-phase high-performance liquid chromatography after precolumn derivatization with phenyl isothiocyanate was adapted to the determination of free amino acids in plasma or other biological fluids and in tissue homogenates. Preparation of samples included deproteinization by 3% sulphosalicylic acid, and careful removal under high vacuum of residual phenyl isothiocyanate after derivatization. A Waters Pico-Tag column (15 cm long) was used, immersed in a water-bath at 38°C. In rat or human plasma, separation of 23 individual amino acids, plus the unresolved pair tryptophan and ornithine, was obtained within 13 min. Including the time for column washing and re-equilibration, samples could be chromatographed at 23-min intervals. Variability was tested for each amino acid by calculating the coefficients of variation of retention times (less than 1% in the average) and peak areas (less than 4% for both intra-day and inter-day determinations). The linearity for each standard amino acid was remarkable over the concentration range 3–50 nmol/ml. The mean recovery of amino acid standards added to plasma prior to derivatization was 97 ± 0.8%, except for aspartate (82%) and glutamate (81%). This method is rapid (almost three samples per hour can be analysed, more than in any other reported technique), with satisfactory precision, sensitivity and reproducibility. Therefore, it is well suited for routine analysis of free amino acids in both clinical and research work. 相似文献
20.
R Russo F De Vanna M Carrozzo V Pipitone 《Bollettino della Società italiana di biologia sperimentale》1965,41(18):1060-1062