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111.
The mutation rates of di-, tri- and tetranucleotide repeats in Drosophila melanogaster 总被引:3,自引:1,他引:3
Schug MD; Hutter CM; Wetterstrand KA; Gaudette MS; Mackay TF; Aquadro CF 《Molecular biology and evolution》1998,15(12):1751-1760
In a recent study, we reported that the combined average mutation rate of
10 di-, 6 tri-, and 8 tetranucleotide repeats in Drosophila melanogaster
was 6.3 x 10(-6) mutations per locus per generation, a rate substantially
below that of microsatellite repeat units in mammals studied to date (range
= 10(-2)-10(-5) per locus per generation). To obtain a more precise
estimate of mutation rate for dinucleotide repeat motifs alone, we assayed
39 new dinucleotide repeat microsatellite loci in the mutation accumulation
lines from our earlier study. Our estimate of mutation rate for a total of
49 dinucleotide repeats is 9.3 x 10(-6) per locus per generation, only
slightly higher than the estimate from our earlier study. We also estimated
the relative difference in microsatellite mutation rate among di-, tri-,
and tetranucleotide repeats in the genome of D. melanogaster using a method
based on population variation, and we found that tri- and tetranucleotide
repeats mutate at rates 6.4 and 8.4 times slower than that of dinucleotide
repeats, respectively. The slower mutation rates of tri- and
tetranucleotide repeats appear to be associated with a relatively short
repeat unit length of these repeat motifs in the genome of D. melanogaster.
A positive correlation between repeat unit length and allelic variation
suggests that mutation rate increases as the repeat unit lengths of
microsatellites increase.
相似文献
112.
Judith Field Fernando Shahijanian Stephen Schibeci Australia New Zealand MS Genetics Consortium Laura Johnson Melissa Gresle Louise Laverick Grant Parnell Graeme Stewart Fiona McKay Trevor Kilpatrick Helmut Butzkueven David Booth 《PloS one》2015,10(6)
Human genetic and animal studies have implicated the costimulatory molecule CD40 in the development of multiple sclerosis (MS). We investigated the cell specific gene and protein expression variation controlled by the CD40 genetic variant(s) associated with MS, i.e. the T-allele at rs1883832. Previously we had shown that the risk allele is expressed at a lower level in whole blood, especially in people with MS. Here, we have defined the immune cell subsets responsible for genotype and disease effects on CD40 expression at the mRNA and protein level. In cell subsets in which CD40 is most highly expressed, B lymphocytes and dendritic cells, the MS-associated risk variant is associated with reduced CD40 cell-surface protein expression. In monocytes and dendritic cells, the risk allele additionally reduces the ratio of expression of full-length versus truncated CD40 mRNA, the latter encoding secreted CD40. We additionally show that MS patients, regardless of genotype, express significantly lower levels of CD40 cell-surface protein compared to unaffected controls in B lymphocytes. Thus, both genotype-dependent and independent down-regulation of cell-surface CD40 is a feature of MS. Lower expression of a co-stimulator of T cell activation, CD40, is therefore associated with increased MS risk despite the same CD40 variant being associated with reduced risk of other inflammatory autoimmune diseases. Our results highlight the complexity and likely individuality of autoimmune pathogenesis, and could be consistent with antiviral and/or immunoregulatory functions of CD40 playing an important role in protection from MS. 相似文献
113.
Ancient connections between animals and human are seen in cultures throughout the world in multiple forms of interaction with the local fauna that form the core of Ethnozoology. Historically, ethnozoological publications grew out of studies undertaken in academic areas such as zoology, human ecology, sociology and anthropology - reflecting the interdisciplinary character of this discipline. The rich fauna and cultural diversity found in Brazil, with many different species of animals being used for an extremely wide diversity of purposes by Amerindian societies (as well as the descendents of the original European colonists and African slaves), presents an excellent backdrop for examining the relationships that exist between humans and other animals. This work presents a historical view of ethnozoological research in Brazil and examines its evolution, tendencies, and future perspectives. In summary, literature researches indicated that ethnozoology experienced significant advances in recent years in Brazil, although from a qualitative point of view improvement is still needed in terms of methodological procedures, taxonomic precision, and the use of quantitative techniques. A wide range of methodologies and theories are available in different areas of learning that can be put to good use in ethnozoological approaches if the right questions are asked. The challenges to studying ethnozoology in Brazil are not insignificant, and the tendencies described in the present study may aid in defining research strategies that will maintain the quantitative growth observed in the recent years but likewise foster needed qualitative improvements. 相似文献
114.
Ilboudo H Jamonneau V Camara M Camara O Dama E Léno M Ouendeno F Courtin F Sakande H Sanon R Kaboré J Coulibaly B N'Dri L Diarra A N'Goran E Bucheton B 《Microbes and infection / Institut Pasteur》2011,13(11):943-952
At a time when human African trypanosomiasis (HAT) elimination again seems a reachable goal in many parts of sub-Saharan Africa, it is becoming increasingly important to characterise the factors involved in disease resurgence or maintenance to develop sustainable control strategies. In this study conducted in the Forecariah mangrove focus in Guinea, HAT patients and serological suspects (SERO) were identified through mass screening of the population with the Card Agglutination Test for Trypanosomiasis (CATT) and were followed up for up to 2 years. Analysis of the samples collected during the follow-up of HAT patients and SERO was performed with PCR (TBR1/TBR2) and the trypanolysis serological test (TL) in order to clarify the role played by these individuals in the epidemiology of HAT. PCR positivity was higher in TL+ than in SERO TL− (50% vs. 18%, respectively). Whereas CATT plasma titres decreased both in treated HAT patients and SERO TL−, SERO TL+ maintained high CATT titres. Four out of 17 SERO TL+ developed HAT during the study. These results strongly suggest that SERO TL+ individuals are asymptomatic carriers. In the context where disease prevalence is sufficiently low, treating SERO TL+ individual may thus be of crucial importance in order to cut transmission. 相似文献
115.
Tania de Waal Danica Liebenberg Gert J Venter Charlotte MS Mienie Huib van Hamburg 《Journal of vector ecology》2016,41(1):179-185
African horse sickness (AHS) is an infectious, non‐contagious arthropod‐borne disease of equids, caused by the African horse sickness virus (AHSV), an orbivirus of the Reoviridae family. It is endemic in sub‐Saharan Africa and thought to be the most lethal viral disease of horses. This study focused on detection of AHSV in Culicoides imicola (Diptera: Ceratopogonidae) pools by the application of a RT‐qPCR. Midges were fed on AHSV‐infected blood. A single blood‐engorged female was allocated to pools of unfed nulliparous female midges. Pool sizes varied from 1 to 200. RNA was extracted and prepared for RT‐qPCR. The virus was successfully detected and the optimal pool size for the limit of detection of the virus was determined at a range between 1 to 25. Results from this investigation highlight the need for a standardized protocol for AHSV investigation in Culicoides midges especially for comparison among different studies and for the determination of infection rate. 相似文献
116.
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119.
Sze SH; Roytberg MA; Gelfand MS; Mironov AA; Astakhova TV; Pevzner PA 《Bioinformatics (Oxford, England)》1998,14(1):14-19
MOTIVATION: Gene annotation is the final goal of gene prediction
algorithms. However, these algorithms frequently make mistakes and
therefore the use of gene predictions for sequence annotation is hardly
possible. As a result, biologists are forced to conduct time-consuming gene
identification experiments by designing appropriate PCR primers to test
cDNA libraries or applying RT-PCR, exon trapping/amplification, or other
techniques. This process frequently amounts to 'guessing' PCR primers on
top of unreliable gene predictions and frequently leads to wasting of
experimental efforts. RESULTS: The present paper proposes a simple and
reliable algorithm for experimental gene identification which bypasses the
unreliable gene prediction step. Studies of the performance of the
algorithm on a sample of human genes indicate that an experimental protocol
based on the algorithm's predictions achieves an accurate gene
identification with relatively few PCR primers. Predictions of PCR primers
may be used for exon amplification in preliminary mutation analysis during
an attempt to identify a gene responsible for a disease. We propose a
simple approach to find a short region from a genomic sequence that with
high probability overlaps with some exon of the gene. The algorithm is
enhanced to find one or more segments that are probably contained in the
translated region of the gene and can be used as PCR primers to select
appropriate clones in cDNA libraries by selective amplification. The
algorithm is further extended to locate a set of PCR primers that uniformly
cover all translated regions and can be used for RT-PCR and further
sequencing of (unknown) mRNA.
相似文献
120.
Husain S Yildirim-Toruner C Rubio JP Field J;Southern MS Genetics Consortium Schwalb M Cook S Devoto M Vitale E 《PloS one》2008,3(7):e2653
Multiple sclerosis (MS) is an inflammatory demyelinating disease of the central nervous system of unknown etiology with both genetic and environmental factors playing a role in susceptibility. To date, the HLA DR15/DQ6 haplotype within the major histocompatibility complex on chromosome 6p, is the strongest genetic risk factor associated with MS susceptibility. Additional alleles of IL7 and IL2 have been identified as risk factors for MS with small effect. Here we present two independent studies supporting an allelic association of MS with polymorphisms in the ST8SIA1 gene, located on chromosome 12p12 and encoding ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1. The initial association was made in a single three-generation family where a single-nucleotide polymorphism (SNP) rs4762896, was segregating together with HLA DR15/DQ6 in MS patients. A study of 274 family trios (affected child and both unaffected parents) from Australia validated the association of ST8SIA1 in individuals with MS, showing transmission disequilibrium of the paternal alleles for three additional SNPs, namely rs704219, rs2041906, and rs1558793, with p = 0.001, p = 0.01 and p = 0.01 respectively. These findings implicate ST8SIA1 as a possible novel susceptibility gene for MS. 相似文献