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排序方式: 共有110条查询结果,搜索用时 31 毫秒
31.
Hunt KA Smyth DJ Balschun T Ban M Mistry V Ahmad T Anand V Barrett JC Bhaw-Rosun L Bockett NA Brand OJ Brouwer E Concannon P Cooper JD Dias KR van Diemen CC Dubois PC Edkins S Fölster-Holst R Fransen K Glass DN Heap GA Hofmann S Huizinga TW Hunt S Langford C Lee J Mansfield J Marrosu MG Mathew CG Mein CA Müller-Quernheim J Nutland S Onengut-Gumuscu S Ouwehand W Pearce K Prescott NJ Posthumus MD Potter S Rosati G Sambrook J Satsangi J Schreiber S Shtir C Simmonds MJ Sudman M Thompson SD Toes R 《Nature genetics》2012,44(1):3-5
32.
Peroxisomes metabolize a variety of lipids, acting as a chain-shortening system that produces
acyl-CoAs of varying chain lengths, including acetyl-CoA and propionyl-CoA. It is, however, still largely
unknown how β-oxidation products exit peroxisomes and where they are further metabolized. Peroxisomes
contain carnitine acetyltransferase (CRAT) and carnitine octanoyltransferase (CROT) that produce carnitine esters for transport
out of peroxisomes, together with recently characterized acyl-CoA thioesterases (ACOTs) that produce free fatty acids. Here
we have performed tissue expression profiling of the short- and medium-chain carnitine acyltransferases Crat, Crot and the short- and medium-chain thioesterases (Acot12) and (Acot5), and show that they are largely expressed in different tissues, suggesting that they do not compete for the same substrates
but rather provide complementary systems for transport of metabolites across the peroxisomal membrane. These data also explain
earlier observed tissue differences in peroxisomal production of acetyl-CoA/acetyl-carnitine/acetate and underscores the differences
in peroxisome function in various organs.
Received 18 December 2007; received after revision 18 January 2008; accepted 22 January 2008 相似文献
33.
Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease 总被引:1,自引:0,他引:1
Fisher SA Tremelling M Anderson CA Gwilliam R Bumpstead S Prescott NJ Nimmo ER Massey D Berzuini C Johnson C Barrett JC Cummings FR Drummond H Lees CW Onnie CM Hanson CE Blaszczyk K Inouye M Ewels P Ravindrarajah R Keniry A Hunt S Carter M Watkins N Ouwehand W Lewis CM Cardon L;Wellcome Trust Case Control Consortium Lobo A Forbes A Sanderson J Jewell DP Mansfield JC Deloukas P Mathew CG Parkes M Satsangi J 《Nature genetics》2008,40(6):710-712
We report results of a nonsynonymous SNP scan for ulcerative colitis and identify a previously unknown susceptibility locus at ECM1. We also show that several risk loci are common to ulcerative colitis and Crohn's disease (IL23R, IL12B, HLA, NKX2-3 and MST1), whereas autophagy genes ATG16L1 and IRGM, along with NOD2 (also known as CARD15), are specific for Crohn's disease. These data provide the first detailed illustration of the genetic relationship between these common inflammatory bowel diseases. 相似文献
34.
Inherited mutations in BRCA2 are associated with a predisposition to early-onset breast cancers. The underlying basis of tumorigenesis is thought to be linked to defects in DNA double-strand break repair by homologous recombination. Here we show that the carboxy-terminal region of BRCA2, which interacts directly with the essential recombination protein RAD51, contains a site (serine 3291; S3291) that is phosphorylated by cyclin-dependent kinases. Phosphorylation of S3291 is low in S phase when recombination is active, but increases as cells progress towards mitosis. This modification blocks C-terminal interactions between BRCA2 and RAD51. However, DNA damage overcomes cell cycle regulation by decreasing S3291 phosphorylation and stimulating interactions with RAD51. These results indicate that S3291 phosphorylation might provide a molecular switch to regulate RAD51 recombination activity, providing new insight into why BRCA2 C-terminal deletions lead to radiation sensitivity and cancer predisposition. 相似文献
35.
Ross MT Grafham DV Coffey AJ Scherer S McLay K Muzny D Platzer M Howell GR Burrows C Bird CP Frankish A Lovell FL Howe KL Ashurst JL Fulton RS Sudbrak R Wen G Jones MC Hurles ME Andrews TD Scott CE Searle S Ramser J Whittaker A Deadman R Carter NP Hunt SE Chen R Cree A Gunaratne P Havlak P Hodgson A Metzker ML Richards S Scott G Steffen D Sodergren E Wheeler DA Worley KC Ainscough R Ambrose KD Ansari-Lari MA Aradhya S Ashwell RI Babbage AK Bagguley CL Ballabio A Banerjee R Barker GE Barlow KF 《Nature》2005,434(7031):325-337
The human X chromosome has a unique biology that was shaped by its evolution as the sex chromosome shared by males and females. We have determined 99.3% of the euchromatic sequence of the X chromosome. Our analysis illustrates the autosomal origin of the mammalian sex chromosomes, the stepwise process that led to the progressive loss of recombination between X and Y, and the extent of subsequent degradation of the Y chromosome. LINE1 repeat elements cover one-third of the X chromosome, with a distribution that is consistent with their proposed role as way stations in the process of X-chromosome inactivation. We found 1,098 genes in the sequence, of which 99 encode proteins expressed in testis and in various tumour types. A disproportionately high number of mendelian diseases are documented for the X chromosome. Of this number, 168 have been explained by mutations in 113 X-linked genes, which in many cases were characterized with the aid of the DNA sequence. 相似文献
36.
An SNP map of human chromosome 22 总被引:35,自引:0,他引:35
Mullikin JC Hunt SE Cole CG Mortimore BJ Rice CM Burton J Matthews LH Pavitt R Plumb RW Sims SK Ainscough RM Attwood J Bailey JM Barlow K Bruskiewich RM Butcher PN Carter NP Chen Y Clee CM Coggill PC Davies J Davies RM Dawson E Francis MD Joy AA Lamble RG Langford CF Macarthy J Mall V Moreland A Overton-Larty EK Ross MT Smith LC Steward CA Sulston JE Tinsley EJ Turney KJ Willey DL Wilson GD McMurray AA Dunham I Rogers J Bentley DR 《Nature》2000,407(6803):516-520
The human genome sequence will provide a reference for measuring DNA sequence variation in human populations. Sequence variants are responsible for the genetic component of individuality, including complex characteristics such as disease susceptibility and drug response. Most sequence variants are single nucleotide polymorphisms (SNPs), where two alternate bases occur at one position. Comparison of any two genomes reveals around 1 SNP per kilobase. A sufficiently dense map of SNPs would allow the detection of sequence variants responsible for particular characteristics on the basis that they are associated with a specific SNP allele. Here we have evaluated large-scale sequencing approaches to obtaining SNPs, and have constructed a map of 2,730 SNPs on human chromosome 22. Most of the SNPs are within 25 kilobases of a transcribed exon, and are valuable for association studies. We have scaled up the process, detecting over 65,000 SNPs in the genome as part of The SNP Consortium programme, which is on target to build a map of 1 SNP every 5 kilobases that is integrated with the human genome sequence and that is freely available in the public domain. 相似文献
37.
There is increasing evidence that inhomogeneous distributions of charge and spin--so-called 'striped phases'--play an important role in determining the properties of the high-temperature superconductors. For example, recent neutron-scattering measurements on the YBa2Cu3O(7-x) family of materials show both spin and charge fluctuations that are consistent with the striped-phase picture. But the fluctuations associated with a striped phase are expected to be one-dimensional, whereas the magnetic fluctuations observed to date appear to display two-dimensional symmetry. We show here that this apparent two-dimensionality results from measurements on twinned crystals, and that similar measurements on substantially detwinned crystals of YBa2Cu3O6.6 reveal the one-dimensional character of the magnetic fluctuations, thus greatly strengthening the striped-phase interpretation. Moreover, our results also suggest that superconductivity originates in charge stripes that extend along the b crystal axis, where the superfluid density is found to be substantially larger than for the a direction. 相似文献
38.
39.
40.
E. Schlittler P. R. Ulshafer Mary L. Pandow Regina M. Hunt L. Dorfman 《Cellular and molecular life sciences : CMLS》1955,11(2):64-65
Zusammenfassung AusRauwolfia canescens wurde Deserpidin, C32H38O8N2, isoliert und eine Konstitutionsformel für dieses neue Alkaloid vorgeschlagen.
Communication XV,C. F. Huebner et al., J.A.C.S. (in press).
From lecture given at Columbia University, New York, January 12th, 1955. 相似文献
Communication XV,C. F. Huebner et al., J.A.C.S. (in press).
From lecture given at Columbia University, New York, January 12th, 1955. 相似文献