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排序方式: 共有109条查询结果,搜索用时 265 毫秒
31.
Tsurusaki Y Okamoto N Ohashi H Kosho T Imai Y Hibi-Ko Y Kaname T Naritomi K Kawame H Wakui K Fukushima Y Homma T Kato M Hiraki Y Yamagata T Yano S Mizuno S Sakazume S Ishii T Nagai T Shiina M Ogata K Ohta T Niikawa N Miyatake S Okada I Mizuguchi T Doi H Saitsu H Miyake N Matsumoto N 《Nature genetics》2012,44(4):376-378
By exome sequencing, we found de novo SMARCB1 mutations in two of five individuals with typical Coffin-Siris syndrome (CSS), a rare autosomal dominant anomaly syndrome. As SMARCB1 encodes a subunit of the SWItch/Sucrose NonFermenting (SWI/SNF) complex, we screened 15 other genes encoding subunits of this complex in 23 individuals with CSS. Twenty affected individuals (87%) each had a germline mutation in one of six SWI/SNF subunit genes, including SMARCB1, SMARCA4, SMARCA2, SMARCE1, ARID1A and ARID1B. 相似文献
32.
Parihar MS Parihar A Fujita M Hashimoto M Ghafourifar P 《Cellular and molecular life sciences : CMLS》2008,65(7-8):1272-1284
α-Synuclein is a neuron-specific protein that contributes to the pathology of Parkinson’s disease via mitochondria-related mechanisms. The present study investigated possible interaction of α-synuclein with mitochondria and
consequences of such interaction. Using SHSY cells overexpressing α-synuclein A53T mutant or wild-type, as well as isolated
rat brain mitochondria, the present study shows that α-synuclein localizes at the mitochondrial membrane. In both SHSY cells
and isolated mitochondria, interaction of α-synuclein with mitochondria causes release of cytochrome c, increase of mitochondrial calcium and nitric oxide, and oxidative modification of mitochondrial components. These findings
suggest a pivotal role for mitochondria in oxidative stress and apoptosis induced by α-synuclein.
Received 27 December 2007; received after revision 7 February 2008; accepted 8 February 2008 相似文献
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34.
The same anthocyanin pigment makes roses red but cornflowers blue, a phenomenon that has so far not been entirely explained. Here we describe the X-ray crystal structure of the cornflower pigment, which reveals that its blue colour arises from a complex of six molecules each of anthocyanin and flavone, with one ferric iron, one magnesium and two calcium ions. We believe that this tetrametal complex may represent a previously undiscovered type of supermolecular pigment. 相似文献
35.
The analytical technique of nuclear magnetic resonance (NMR) is based on coherent quantum mechanical superposition of nuclear spin states. Recently, NMR has received considerable renewed interest in the context of quantum computation and information processing, which require controlled coherent qubit operations. However, standard NMR is not suitable for the implementation of realistic scalable devices, which would require all-electrical control and the means to detect microscopic quantities of coherent nuclear spins. Here we present a self-contained NMR semiconductor device that can control nuclear spins in a nanometre-scale region. Our approach enables the direct detection of (otherwise invisible) multiple quantum coherences between levels separated by more than one quantum of spin angular momentum. This microscopic high sensitivity NMR technique is especially suitable for probing materials whose nuclei contain multiple spin levels, and may form the basis of a versatile multiple qubit device. 相似文献
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38.
Hydrogen peroxide and hydroxyl radical involvement in the activation of caspase-3 in chemically induced apoptosis of HL-60 cells 总被引:3,自引:0,他引:3
Kajiwara K Ikeda K Kuroi R Hashimoto R Tokumaru S Kojo S 《Cellular and molecular life sciences : CMLS》2001,58(3):485-491
Apoptosis of HL-60 cells induced by actinomycin D, H7, or daunorubicin was shown to involve the activation of caspase-3-like
protease, 2 h after the addition of these drugs, based on microassay of enzyme activity by high-performance liquid chromatography.
Catalase and a spin trap, N-t-butyl--phenylnitrone, which effectively inhibited the apoptosis induced by these drugs, also inhibited the activation of caspase-3-like
protease. These results suggest that hydrogen peroxide and the hydroxyl radical are common mediators of caspase-3 activation
caused by these chemicals, with apparently different functional mechanisms. Based on mitochondrial activity determined by
oxygen consumption, complexes I, II, and IV were inhibited by actinomycin D. H7 inhibited complexes I and IV, 1 and 1.5 h
respectively, after the addition of the drug to HL-60 cells. Daunorubicin inhibited complex IV, 1.5 h after the addition of
the drug to HL-60 cells. Inhibition of complex IV by actinomycin D, H7, and daunorubicin were almost fully restored by the
addition of cytochrome c. The release to the cytosol of cytochrome c by these drugs was also demonstrated by Western blot
analysis. Addition of catalase inhibited the depression of complex IV activity induced by actinomycin D and H7. These observations
indicate a direct relationship between hydrogen peroxide and the release of cytochrome c during apoptosis caused by actinomycin
D, H7, and daunorubicin.
Received 24 November 2000; received after revision 2 January 2001; accepted 30 January 2001 相似文献
39.
H.-O. Ito T. Ueda Y. Hashimoto T. Imoto T. Koga 《Cellular and molecular life sciences : CMLS》1997,53(1):51-60
We previously generated a monoclonal antibody (mAb) against a putative pathogenic epitope on native type II collagen (CII)
for the induction of collagen-induced arthritis in mice (mAb1), and an anti-idiotypic mAb which appears to possess the internal
image of the CII epitope (mAb2). In the present study, the structural basis of the antigen/mAb1 and mAb1/mAb2 interactions
was examined. When partially SH-reduced mAb1 was analysed on Western blots, only fragments containing both heavy (H) and light
(L) chains were recognized by mAb2. When mAb2 was partially SH-reduced, only fragments containing both H and L chains were
recognized by mAb1. H and L chains were separated from mAb1 in a reduced, denatured condition, and each chain and a mixture
of the two were refolded. mAb2 reacted specifically to the renatured whole IgG molecule of mAb1, but not to the refolded L
or to H chains. Recombinant single chain Fv (scFv) generated from mAb1 and mAb2 had properties of the original mAbs, whereas
genetical
ly constructed chimeric scFvs, consisting of VH from mAb1 and an irrelevant VL , or VL of mAb1 and an irrelevant VH , did not react either to CII or to mAb2. Thus, interactions among CII, mAb1 and mAb2 appear to depend on quaternary structures
containing different protein subunits. These observations support the internal image property of the mAb2. In addition, this
dependency on quaternary structure for recognition of proteins may also be relevant to other protein-protein interactions.
Received 29 July 1996; received after revision 13 September 1996; accepted 18 October 1996 相似文献
40.
Maintenance methylation of hemimethylated CpG dinucleotides at DNA replication forks is the key to faithful mitotic inheritance of genomic methylation patterns. UHRF1 (ubiquitin-like, containing PHD and RING finger domains 1) is required for maintenance methylation by interacting with DNA nucleotide methyltransferase 1 (DNMT1), the maintenance methyltransferase, and with hemimethylated CpG, the substrate for DNMT1 (refs 1 and 2). Here we present the crystal structure of the SET and RING-associated (SRA) domain of mouse UHRF1 in complex with DNA containing a hemimethylated CpG site. The DNA is contacted in both the major and minor grooves by two loops that penetrate into the middle of the DNA helix. The 5-methylcytosine has flipped completely out of the DNA helix and is positioned in a binding pocket with planar stacking contacts, Watson-Crick polar hydrogen bonds and van der Waals interactions specific for 5-methylcytosine. Hence, UHRF1 contains a previously unknown DNA-binding module and is the first example of a non-enzymatic, sequence-specific DNA-binding protein domain to use the base flipping mechanism to interact with DNA. 相似文献