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排序方式: 共有152条查询结果,搜索用时 156 毫秒
1.
Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome 总被引:2,自引:0,他引:2
Jaak Jacken Helmut Klocker Helga Schwaiger Romuald Bellmann Monica Hirsch-Kauffmann Manfred Schweiger 《Human genetics》1989,83(4):339-346
Summary We present clinical and biochemical data from three patients with severe Cockayne syndrome (CS) of very early onset. Unlike in classic CS, signs became evident in the first weeks of life and led to unusually early death. Fibroblasts from two of the patients showed a complete defect of the repair of UV-induced thymine dimer lesions. They were unable to remove thymine dimer lesions from their DNA, had a severe reduction of the RNA synthesis rates after UV irradiation, and showed no reactivation of an UV-inactivated indicator gene and no DNA recondensation after UV irradiation. DNA repair investigated in these two fibroblast cell strains resembled that of xeroderma pigmentosum cells of complementation group A. In contrast, fibroblasts from the third patient showed the same in vitro repair characteristics as classic CS cells. 相似文献
2.
In order to find a suitable reagent for extracting the muscarinic receptor from rat brain membranes 14 different detergents
were tested. Only the plant glycoside digitonin efficiently solubilized the receptor protein in its native form. At the same
time microviscosity of detergent micelles was determined by measuring the fluorescence polarization of a hydrophobic fluorescent
probe diphenylhexatriene incorporated into the micelles. In the case of digitonin the polarization value was close to the
corresponding value obtained for rat brain membrane fragments, while for the other detergents studied it remained considerably
lower. The results obtained indicate that the fluidity of detergent micelles may play an important role in retaining the active
conformation of the solubilized muscarinic receptor. 相似文献
3.
Jaak Kaldma 《Molecular and cellular biochemistry》1977,14(1-3):25-29
Summary Mitochondrial mutants resistant to erythromycin, neomycin and monomycin were isolated. Mitochondria were transmitted from different natural strains to the cells of the same nuclear genotype. In bifactorial crosses of such isochromosomal and anisomitochondrial yeasts we tested random samples of diploid colonies. The distribution of mitochondrial markers in parent and recombinant classes has been shown to occur unequally. The asymmetry of parent and the polarity of recombinant classes were observed to differ in different mitochondrial mutants.Anisomitochondrial strain crosses proved that mitochondrial origin essentially influenced both the parent and recombinant classes distribution and the susceptibility of the transmission to the effect of mating type locus. One can distinguish between homo- and heterosexual cross combinations in terms of recombination polarity.The new type of mitochondria was found to occur with high frequency of transmission to the zygote progeny of markers resistant to erythromycin but not of markers resistant to neomycin. The problem of sex in mitochondria is discussed. 相似文献
4.
Indrek Saar Johan Runesson Jaak Järv Kaido Kurrikoff Ülo Langel 《Neurochemical research》2013,38(2):398-404
Neuropeptide galanin and its three receptors, galanin receptor type 1–galanin receptor type 3, are known to be involved in the regulation of numerous psychological processes, including depression. Studies have suggested that stimulation of galanin receptor type 2 (GalR2) leads to attenuation of the depression-like behavior in animals. However, due to the lack of highly selective galanin subtype specific ligands the involvement of different receptors in depression-like behavior is yet not fully known. In the present study we introduce a novel GalR2 selective agonist and demonstrate its ability to produce actions consistent with theorized GalR2 functions and analogous to that of the anti-depressant, imipramine. 相似文献
5.
Signe Viggor Jaanis Juhanson Merike Jõesaar Mario Mitt Jaak Truu Eve Vedler Ain Heinaru 《Microbiological research》2013,168(7):415-427
The coastal waters of the Baltic Sea are constantly threatened by oil spills, due to the extensive transportation of oil products across the sea. To characterise the hydrocarbon-degrading bacterial community of this marine area, microcosm experiments on diesel fuel, crude oil and shale oil were performed. Analysis of these microcosms, using alkane monooxygenase (alkB) and 16S rRNA marker genes in PCR-DGGE experiments, demonstrated that substrate type and concentration strongly influence species composition and the occurrence of alkB genes in respective oil degrading bacterial communities. Gammaproteobacteria (particularly the genus Pseudomonas) and Alphaproteobacteria were dominant in all microcosms treated with oils. All alkB genes carried by bacterial isolates (40 strains), and 8 of the 11 major DGGE bands from the microcosms, had more than 95% sequence identity with the alkB genes of Pseudomonas fluorescens. However, the closest relatives of the majority of sequences (54 sequences from 79) of the alkB gene library from initially collected seawater DNA were Actinobacteria. alkB gene expression, induced by hexadecane, was recorded in isolated bacterial strains. Thus, complementary culture dependent and independent methods provided a more accurate picture about the complex seawater microbial communities of the Baltic Sea. 相似文献
6.
Christian Montag Elisabeth Hahn Martin Reuter Frank M. Spinath Ken Davis Jaak Panksepp 《PloS one》2016,11(3)
The present study investigated for the first time the relative importance of genetics and environment on individual differences in primary emotionality as measured with the Affective Neuroscience Personality Scales (ANPS) by means of a twin-sibling study design. In N = 795 participants (n = 303 monozygotic twins, n = 172 dizygotic twins and n = 267 non-twin full siblings), moderate to strong influences of genetics on individual differences in these emotional systems are observed. Lowest heritability estimates are presented for the SEEKING system (33%) and highest for the PLAY system (69%). Further, multivariate genetic modeling was applied to the data showing that associations among the six ANPS scales were influences by both, a genetic as well as an environmental overlap between them. In sum, the study underlines the usefulness of the ANPS for biologically oriented personality psychology research. 相似文献
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Jürimäe T Jürimäe J Wallner SJ Lipp RW Schnedl WJ Möller R Tafeit E 《Journal of physiological anthropology》2007,26(4):513-516
The aim of this study was to examine the relationships between body fat measured by DXA and subcutaneous adipose tissue layers (SAT-layers) measured by LIPOMETER in adult males (n=28) and females (n=53). Body height and mass were measured and BMI was calculated (kg/m2). Measurements of the thicknesses of SAT-layers by LIPOMETER were performed at 15 original body sites. Body composition was measured using DXA. Total body fat % measured by DXA was highly dependent on the SAT-layers in the upper back and inner thigh in males (87.1%, R(2)x100) and the lateral chest, biceps, and calf in females (78.5%, R(2)x100). There were gender differences in trunk fat mass and right hand and leg fat mass calculation using specific SAT-layers. In conclusion, our results indicate that there are close relationships between SAT-layers and body fat measured by DXA. However, there are big differences between genders. 相似文献
10.
Butler M Quelhas D Critchley AJ Carchon H Hebestreit HF Hibbert RG Vilarinho L Teles E Matthijs G Schollen E Argibay P Harvey DJ Dwek RA Jaeken J Rudd PM 《Glycobiology》2003,13(9):601-622
The fundamental importance of correct protein glycosylation is abundantly clear in a group of diseases known as congenital disorders of glycosylation (CDGs). In these diseases, many biological functions are compromised, giving rise to a wide range of severe clinical conditions. By performing detailed analyses of the total serum glycoproteins as well as isolated transferrin and IgG, we have directly correlated aberrant glycosylation with a faulty glycosylation processing step. In one patient the complete absence of complex type sugars was consistent with ablation of GlcNAcTase II activity. In another CDG type II patient, the identification of specific hybrid sugars suggested that the defective processing step was cell type-specific and involved the mannosidase III pathway. In each case, complementary serum proteome analyses revealed significant changes in some 31 glycoproteins, including components of the complement system. This biochemical approach to charting diseases that involve alterations in glycan processing provides a rapid indicator of the nature, severity, and cell type specificity of the suboptimal glycan processing steps; allows links to genetic mutations; indicates the expression levels of proteins; and gives insight into the pathways affected in the disease process. 相似文献