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Unstable telocentric chromosome produced after centric misdivision of a 21q/21q translocated element
Summary An unstable telocentric chromosome was found in an individual with Down's syndrome and an unusual chromosomal mosaic, 46,XX, t(21q21q)+,21-/46,XX,21p-/45,XX,21-. As the 21q/21q chromosome was of paternal origin, based on the characteristics of its centromeric heterochromatin and on the characteristics of both 21 chromosomes of the father, it was concluded that its formation involved centric breakage and loss of centromeric material. The cell line with the 21p- chromosome may have originated from the translocation by an asymmetric misdivision of the reduced centromeric material. Of the two telocentrics produced by this fracture, one, possessing the smaller amount of centromeric apparatus, would be immediately lost; the other would be retained, but complete activity of its centromere would not be restored. It would therefore be unstable and might be lost. 相似文献
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A PCR-Based Method for Monitoring Legionella pneumophila in Water Samples Detects Viable but Noncultivable Legionellae That Can Recover Their Cultivability 下载免费PDF全文
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Viola Scoffone Daniele Dondi Ginevra Biino Giovanni Borghese Dario Pasini Alessandro Galizzi Cinzia Calvio 《Biotechnology and bioengineering》2013,110(7):2006-2012
One of the emerging biopolymers that are currently under active investigation is bacterial poly(γ‐glutamic acid) (γ‐PGA). However, before its full industrial exploitation, a substantial increase in microbial productivity is required. γ‐PGA obtained from the Bacillus subtilis laboratory strain 168 offers the advantage of a producer characterized by a well defined genetic framework and simple manipulation techniques. In this strain, the knockout of genes for the major γ‐PGA degrading enzymes, pgdS and ggt, leads to a considerable improvement in polymer yield, which attains levels analogous to the top wild γ‐PGA producer strains. This study highlights the convenience of using the laboratory strain of B. subtilis over wild isolates in designing strain improvement strategies aimed at increasing γ‐PGA productivity. Biotechnol. Bioeng. 2013; 110: 2006–2012. © 2013 Wiley Periodicals, Inc. 相似文献
5.
O. Dauwalder A. -M. Freydière H. Meugnier Y. Benito M. Chomarat C. Ginevra P. Girardo M. -E. Reverdy J. Etienne G. Lina F. Vandenesch 《Bio Tribune Magazine》2010,36(1):6-11
Concomitant chemoradiotherapy can constitute an alternative to surgical approach in selected patients with bladder carcinoma. TNM staging, histological grading, renal and performance status represent the main prognostic factors useful to define the therapeutic strategy. Biological and genetic factors are still controversial in medical practice. The activation of oncogenes seems to characterize the initiation of superficial lowgrade tumors and the mutations in the tumor suppressor genes (TEN, TP53 and RB) appear as the most important biological features in the in situ and invasive tumors. The expression of p53, Rb, Bcl-2 has an obvious prognostic role but the published studies on molecular factors predictive of radiosensibility are heterogeneous. 相似文献
6.
Banfi L Basso A Damonte G De Pellegrini F Galatini A Guanti G Monfardini I Riva R Scapolla C 《Bioorganic & medicinal chemistry letters》2007,17(5):1341-1345
The synthesis of new conformationally biased cyclic pentapeptides, incorporating the RGD sequence, and built around a tetrahydroazoninone scaffold, is reported. They exhibit interesting activity towards integrin alphaVbeta3 and a remarkable selectivity in comparison with integrin alphaVbeta5. 相似文献
7.
Resta N Susca FC Di Giacomo MC Stella A Bukvic N Bagnulo R Simone C Guanti G 《Journal of cellular physiology》2006,209(1):67-73
Roberts syndrome (RS) is a rare disorder characterized by tetraphocomelia and several other clinical features. Cells from RS patients exhibit characteristic premature separation of heterochromatic region of many chromosomes and abnormalities in cell cycle. Mutations in the ESCO2 gene have recently been identified in 20 RS families. We performed mutational analysis of the ESCO2 gene in two fetuses diagnosed with RS and their normal parents. In both fetuses, we identified homozygosity for the c. 745_746delGT mutation, while the non-consanguineous parents were both heterozygous for the same mutation. Considering the position of the mutation identified, we carried out qualitative and quantitative real-time ESCO2 cDNA analysis on RNA isolated from CVS-stromal cells in one fetus, amniocytes in the second fetus, and lymphocytes from the heterozygous parents. The results of this analysis showed that despite the presence of a premature termination codon (PTC) 112 nucleotides upstream of the next exon3-exon4 junction, the mutant ESCO2 mRNA was present in both fetuses, albeit at low levels, indicating a partial resistance to nonsense mediated decay (NMD). Interestingly, when cells derived from the two fetuses were treated with an inhibitor of translation, they revealed the presence of tissue and individual variability in NMD efficiency, despite the identical mutational status. The existence of such a variation in the NMD efficiency could explain the broad intrafamilial and interfamilial variability in the clinical presentation of RS patients, and in other genetic diseases where nonsense mutations are responsible for most of the mutation load. Moreover, considering that a mutated full length mRNA was produced in both fetuses, we used Western blot analysis to demonstrate the absence of the ESCO2-truncated protein in cells derived from both fetuses and in a lymphoblastoid cell line derived from the parents. 相似文献
8.
Nicola Martinelli Michela Traglia Natascia Campostrini Ginevra Biino Michela Corbella Cinzia Sala Fabiana Busti Corrado Masciullo Daniele Manna Sara Previtali Annalisa Castagna Giorgio Pistis Oliviero Olivieri Daniela Toniolo Clara Camaschella Domenico Girelli 《PloS one》2012,7(10)
The recent discovery of hepcidin, the key iron regulatory hormone, has changed our view of iron metabolism, which in turn is long known to be linked with insulin resistant states, including type 2 diabetes mellitus and the Metabolic Syndrome (MetS). Serum ferritin levels are often elevated in MetS (Dysmetabolic hyperferritinemia - DHF), and are sometimes associated with a true mild-to-moderate hepatic iron overload (dysmetabolic iron overload syndrome - DIOS). However, the pathophysiological link between iron and MetS remains unclear. This study was aimed to investigate, for the first time, the relationship between MetS and hepcidin at population level. We measured serum hepcidin levels by Mass Spectrometry in 1,391 subjects from the Val Borbera population, and evaluated their relationship with classical MetS features. Hepcidin levels increased significantly and linearly with increasing number of MetS features, paralleling the trend of serum ferritin. In multivariate models adjusted for relevant variables including age, C-Reactive Protein, and the HFE C282Y mutation, ferritin was the only significant independent predictor of hepcidin in males, while in females MetS was also independently associated with hepcidin. Overall, these data indicate that the fundamental iron regulatory feedback is preserved in MetS, i.e. that hepcidin tends to progressively increase in response to the increase of iron stores. Due to recently discovered pleiotropic effects of hepcidin, this may worsen insulin resistance and contribute to the cardiovascular complications of MetS. 相似文献
9.
Nenad Bukvic Mattia Gentile Francesco Susca Margherita Fanelli Gabriella Serio Lucia Buonadonna Antonio Capurso Ginevra Guanti 《Mutation Research - Genetic Toxicology and Environmental Mutagenesis》2001,498(1-2)
In the present study we analysed the possible effect of age, sex and smoking on the mean values of micronucleus (MN) and sister chromatid exchange (SCE) frequencies on peripheral blood obtained from 38 subjects ranging in age from 16 to 63 years and 16 centenarians. The mean number of binucleated cells with micronuclei varied in function of age and sex (as demonstrated by the analysis of covariance (F=13.13; P<0.001), particularly evident was the increment observed in women with increasing age (interaction age/sex: F=5.53; P<0.05). Smoking habits had no effects on MN frequency (F=0.36; P>0.05). Sex (F=4.18; P<0.05) and smoking habits (F=14.64; P<0.001) influenced significantly SCE per cell frequencies, but age had no effects on them (F=2.45; P>0.05).The age-associated increase of sex chromosome loss was studied using fluorescence in situ hybridisation (FISH) on interphase nuclei.The loss of Y signals was observed in 10% of interphase cells from the centenarians males, that is six times more often than in the younger control men (1.6%). The frequency of X signal loss (1.7%) in young women was similar to that observed in male controls of the same age but the incidence of the X chromosome aneuploidy in centenarian females was appreciably higher (22%) than that found for the Y chromosome in males. These results were correlated with the data on MN formation and a positive correlation between the percentage of aneuploid cells (FISH) and MN values was observed (r=0.50; P<0.05). 相似文献
10.
Gianmarco Rinaldi Erica Pranzini Joke Van Elsen Dorien Broekaert Cornelius M. Funk Mélanie Planque Ginevra Doglioni Patricia Altea-Manzano Matteo Rossi Vincent Geldhof Shao Thing Teoh Christina Ross Kent W. Hunter Sophia Y. Lunt Thomas G.P. Grünewald Sarah-Maria Fendt 《Molecular cell》2021,81(2):386-397.e7