全文获取类型
收费全文 | 211篇 |
免费 | 19篇 |
专业分类
230篇 |
出版年
2023年 | 1篇 |
2022年 | 2篇 |
2021年 | 3篇 |
2019年 | 1篇 |
2018年 | 1篇 |
2017年 | 6篇 |
2016年 | 4篇 |
2015年 | 11篇 |
2014年 | 15篇 |
2013年 | 17篇 |
2012年 | 16篇 |
2011年 | 9篇 |
2010年 | 7篇 |
2009年 | 15篇 |
2008年 | 10篇 |
2007年 | 10篇 |
2006年 | 15篇 |
2005年 | 12篇 |
2004年 | 5篇 |
2003年 | 6篇 |
2002年 | 2篇 |
2001年 | 10篇 |
2000年 | 9篇 |
1999年 | 4篇 |
1998年 | 11篇 |
1997年 | 3篇 |
1996年 | 3篇 |
1995年 | 4篇 |
1994年 | 2篇 |
1993年 | 1篇 |
1989年 | 1篇 |
1988年 | 1篇 |
1987年 | 2篇 |
1984年 | 2篇 |
1983年 | 2篇 |
1982年 | 1篇 |
1981年 | 1篇 |
1979年 | 1篇 |
1976年 | 2篇 |
1971年 | 1篇 |
1967年 | 1篇 |
排序方式: 共有230条查询结果,搜索用时 15 毫秒
1.
2.
A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency 总被引:11,自引:0,他引:11 下载免费PDF全文
De Praeter CM Gerwig GJ Bause E Nuytinck LK Vliegenthart JF Breuer W Kamerling JP Espeel MF Martin JJ De Paepe AM Chan NW Dacremont GA Van Coster RN 《American journal of human genetics》2000,66(6):1744-1756
Glucosidase I is an important enzyme in N-linked glycoprotein processing, removing specifically distal alpha-1,2-linked glucose from the Glc3Man9GlcNAc2 precursor after its en bloc transfer from dolichyl diphosphate to a nascent polypeptide chain in the endoplasmic reticulum. We have identified a glucosidase I defect in a neonate with severe generalized hypotonia and dysmorphic features. The clinical course was progressive and was characterized by the occurrence of hepatomegaly, hypoventilation, feeding problems, seizures, and fatal outcome at age 74 d. The accumulation of the tetrasaccharide Glc(alpha1-2)Glc(alpha1-3)Glc(alpha1-3)Man in the patient's urine indicated a glycosylation disorder. Enzymological studies on liver tissue and cultured skin fibroblasts revealed a severe glucosidase I deficiency. The residual activity was <3% of that of controls. Glucosidase I activities in cultured skin fibroblasts from both parents were found to be 50% of those of controls. Tissues from the patient subjected to SDS-PAGE followed by immunoblotting revealed strongly decreased amounts of glucosidase I protein in the homogenate of the liver, and a less-severe decrease in cultured skin fibroblasts. Molecular studies showed that the patient was a compound heterozygote for two missense mutations in the glucosidase I gene: (1) one allele harbored a G-->C transition at nucleotide (nt) 1587, resulting in the substitution of Arg at position 486 by Thr (R486T), and (2) on the other allele a T-->C transition at nt 2085 resulted in the substitution of Phe at position 652 by Leu (F652L). The mother was heterozygous for the G-->C transition, whereas the father was heterozygous for the T-->C transition. These base changes were not seen in 100 control DNA samples. A causal relationship between the alpha-glucosidase I deficiency and the disease is postulated. 相似文献
3.
4.
Juan Manuel Herrero-Medrano Hendrik-Jan Megens Martien AM Groenen Mirte Bosse Miguel Pérez-Enciso Richard PMA Crooijmans 《BMC genomics》2014,15(1)
Background
A major concern in conservation genetics is to maintain the genetic diversity of populations. Genetic variation in livestock species is threatened by the progressive marginalisation of local breeds in benefit of high-output pigs worldwide. We used high-density SNP and re-sequencing data to assess genetic diversity of local pig breeds from Europe. In addition, we re-sequenced pigs from commercial breeds to identify potential candidate mutations responsible for phenotypic divergence among these groups of breeds.Results
Our results point out some local breeds with low genetic diversity, whose genome shows a high proportion of regions of homozygosis (>50%) and that harbour a large number of potentially damaging mutations. We also observed a high correlation between genetic diversity estimates using high-density SNP data and Next Generation Sequencing data (r = 0.96 at individual level). The study of non-synonymous SNPs that were fixed in commercial breeds and also in any local breed, but with different allele, revealed 99 non-synonymous SNPs affecting 65 genes. Candidate mutations that may underlie differences in the adaptation to the environment were exemplified by the genes AZGP1 and TAS2R40. We also observed that highly productive breeds may have lost advantageous genotypes within genes involve in immune response – e.g. IL12RB2 and STAB1–, probably as a result of strong artificial in the intensive production systems in pig.Conclusions
The high correlation between genetic diversity computed with the 60K SNP and whole genome re-sequence data indicates that the Porcine 60K SNP Beadchip provides reliable estimates of genomic diversity in European pig populations despite the expected bias. Moreover, this analysis gave insights for strategies to the genetic characterization of local breeds. The comparison between re-sequenced local pigs and re-sequenced commercial pigs made it possible to report candidate mutations to be responsible for phenotypic divergence among those groups of breeds. This study highlights the importance of low input breeds as a valuable genetic reservoir for the pig production industry. However, the high levels of ROHs, inbreeding and potentially damaging mutations emphasize the importance of the genetic characterization of local breeds to preserve their genomic variability.Electronic supplementary material
The online version of this article (doi:10.1186/1471-2164-15-601) contains supplementary material, which is available to authorized users. 相似文献5.
6.
The effect of food deprivation on ova transport, hormonal profiles and metabolic changes was studied in 20 crossbred multiparous
sows during their second oestrus after weaning. To determine the time of ovulation, transrectal ultrasonographic examination
was performed. The sows were divided into 2 groups, one control group (C-group), which was fed according to Swedish standards,
and one experimental group (E-group). The E-group sows were deprived of food from the first morning meal after ovulation until
slaughter. Blood samples were collected every second hour from about 12 h before expected ovulation in the second oestrus
after weaning until slaughter and were analysed for progesterone, prostaglandin F2α-metabolite, insulin, glucose, free fatty acids and triglycerides. All sows were slaughtered approximately 48 h after ovulation
and the genital tract was recovered. The isthmic part of the oviduct was divided into 3 equally long segments and flushed
separately with phosphate buffered saline (PBS). Uterine horns were also flushed with PBS. A significantly greater number
of ova were found in the first and second part of the isthmus in the E-group (p = 0.05) while in the C-group most of the ova
were found in the third part of the isthmus or the uterus (p = 0.01). The level of prostaglandin F2α-metabolite was significantly higher in the E-group compared with the C-group. The concentration of progesterone increased
in both groups after ovulation but there were no significant differences between the groups. The other blood parameters showed
that the food-deprived sows were in a catabolic state. The 48 h period of fasting results, directly or indirectly in an delayed
ova transport, which may be due to a delayed relaxation in the smooth circular muscle layer of the isthmus. 相似文献
7.
MICHEL ROUX NADIA AMÉZIANE MARC ELEAUME 《Zoological Journal of the Linnean Society》2009,155(1):22-39
The main characters of the stalked crinoids of the family Pentacrinitidae attributed to the genus Teliocrinus are re‐evaluated from a quantitative study of phenotype variation, new observations on arm and stalk articulations, and observation of ontogenetic trends. All of the specimens collected in the northern Indian Ocean belong to the same species, i.e. Teliocrinus springeri (Clark, 1909). However, two phenotypes living at different depths remain valid as subspecies: Teliocrinus springeri springeri (Clark, 1909) and Teliocrinus springeri liliaceus (Clark, 1909). Teliocrinus shares several ontogenetic trends with Endoxocrinus, especially in nonfunctional brachial articulations and stalk symplexies. Its assignment to the Diplocrininae is confirmed. A discussion of its affinities with pentacrinid fossil genera in which the crown is well preserved suggests that Diplocrininae could have first appeared during the Lower Cretaceous. A shortening of brachitaxes and a paedomorphic trend of stalk symplexies are the main other evolutionary traits. Nonfunctional articulations are frequently found at the paedomorphic pole of the heterochronic gradient, without clear derived characters. Classification of pentacrinids mainly based on such symplesiomorphy or paedomorphic characters must be definitively abandoned. However, in post‐Palaeozoic stalked crinoids the scarcity of well‐preserved fossils, the high frequency of paedomorphy, and convergent adaptive characters makes phylogenetic reconstruction only based on morphological characters very difficult and speculative. © 2009 The Linnean Society of London, Zoological Journal of the Linnean Society, 2009, 155 , 22–39. 相似文献
8.
Spectrometric studies on stability of tenuazonic acid (TeA) solution in organic solvents 总被引:1,自引:0,他引:1
The stability of tenuazonic acid solution at different temperatures and storage times was studied using methanol, methanol-water
(8:2 v/v), benzene and benzene-acetonitrile (98:2 v/v) as solvents. Solutions were analysed by a spectrometric method TeA
U.V.-spectrum was recorded. Results indicated that the optimum temperature for long-time storage period of tenuazonic acid
solution in any solvent assayed is -20°C. Benzene and benzene-acetonitrile (98:2 v/v) could be advised to make tenuazonic
acid solution which will be stored less than 2 months at 4°C. Methanol and methanolwater (8:2 v/v) are not recommended because
a low stability of TeA solution in this solvents. 相似文献
9.
Andrea Vivian Alvarez-Oxiley Noelita Melo de Sousa Jean-Luc Hornick Kamal Touati Gysbert C van der Weijden Marcel AM Taverne Otto Szenci Jean-François Beckers 《Acta veterinaria Scandinavica》2010,52(1):9
Background
The involvement of placental lactogen (PL) in the regulation of foetal growth has been investigated in different species by in vivo immunomodulation techniques. However, when circulating antibodies are present together with the hormone, the procedure for hormonal measurement becomes considerably complex. The aim of this study was the immunoneutralization of bovine placental lactogen (bPL) concentrations in bovine foetal circulation by direct infusion of rabbit anti-bPL purified immunoglobulins (IgG) via a foetal catheter (in vivo study). The ability of a RIA based on guinea pig anti-bPL antiserum, for the measurement of bPL concentrations in samples containing exogenous rabbit anti-bPL immunoglobulins, was also analyzed in in vitro and in vivo conditions. 相似文献10.
Jan AM van Laar Jasper H Kappen Paul LA van Daele P Martin van Hagen 《Arthritis research & therapy》2009,11(2):109-3
Behçet's disease is a complex vasculitis of unknown etiology. Abundant neutrophils suggest the involvement of innate immunity. Cytokines are skewed to the T-helper-1 pattern. Few sterile organs are easily accessible for analysis in Behçet's disease. Cañete and coworkers identify inflamed joints as a feasible model and suggest the involvement of innate immunity in Behçet's disease. 相似文献