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排序方式: 共有266条查询结果,搜索用时 15 毫秒
81.
Hattori M Fujiyama A Taylor TD Watanabe H Yada T Park HS Toyoda A Ishii K Totoki Y Choi DK Groner Y Soeda E Ohki M Takagi T Sakaki Y Taudien S Blechschmidt K Polley A Menzel U Delabar J Kumpf K Lehmann R Patterson D Reichwald K Rump A Schillhabel M Schudy A Zimmermann W Rosenthal A Kudoh J Schibuya K Kawasaki K Asakawa S Shintani A Sasaki T Nagamine K Mitsuyama S Antonarakis SE Minoshima S Shimizu N Nordsiek G Hornischer K Brant P Scharfe M Schon O Desario A Reichelt J Kauer G Blocker H 《Nature》2000,405(6784):311-319
Chromosome 21 is the smallest human autosome. An extra copy of chromosome 21 causes Down syndrome, the most frequent genetic cause of significant mental retardation, which affects up to 1 in 700 live births. Several anonymous loci for monogenic disorders and predispositions for common complex disorders have also been mapped to this chromosome, and loss of heterozygosity has been observed in regions associated with solid tumours. Here we report the sequence and gene catalogue of the long arm of chromosome 21. We have sequenced 33,546,361 base pairs (bp) of DNA with very high accuracy, the largest contig being 25,491,867 bp. Only three small clone gaps and seven sequencing gaps remain, comprising about 100 kilobases. Thus, we achieved 99.7% coverage of 21q. We also sequenced 281,116 bp from the short arm. The structural features identified include duplications that are probably involved in chromosomal abnormalities and repeat structures in the telomeric and pericentromeric regions. Analysis of the chromosome revealed 127 known genes, 98 predicted genes and 59 pseudogenes. 相似文献
82.
Direct oxidation of hydrocarbons in a solid-oxide fuel cell 总被引:3,自引:0,他引:3
The direct electrochemical oxidation of dry hydrocarbon fuels to generate electrical power has the potential to accelerate substantially the use of fuel cells in transportation and distributed-power applications. Most fuel-cell research has involved the use of hydrogen as the fuel, although the practical generation and storage of hydrogen remains an important technological hurdle. Methane has been successfully oxidized electrochemically, but the susceptibility to carbon formation from other hydrocarbons that may be present or poor power densities have prevented the application of this simple fuel in practical applications. Here we report the direct, electrochemical oxidation of various hydrocarbons (methane, ethane, 1-butene, n-butane and toluene) using a solid-oxide fuel cell at 973 and 1,073 K with a composite anode of copper and ceria (or samaria-doped ceria). We demonstrate that the final products of the oxidation are CO2 and water, and that reasonable power densities can be achieved. The observation that a solid-oxide fuel cell can be operated on dry hydrocarbons, including liquid fuels, without reforming, suggests that this type of fuel cell could provide an alternative to hydrogen-based fuel-cell technologies. 相似文献
83.
84.
Grady WM Willis J Guilford PJ Dunbier AK Toro TT Lynch H Wiesner G Ferguson K Eng C Park JG Kim SJ Markowitz S 《Nature genetics》2000,24(1):16-17
Aberrant promoter methylation and the associated loss of gene expression is a common accompaniment of human cancers. Nonetheless, it has been challenging to demonstrate in any given tumour that methylation of a specific gene was causal and not consequent to malignant transformation. In this regard, our attention was drawn to the genesis of gastric cancers in individuals with hereditary diffuse gastric cancer (HDGC). These individuals harbour germline mutations in the gene encoding E-cadherin, CDH1, but their cancers have consistently demonstrated absence of loss of heterozygosity at the CDH1 locus. These findings suggested the hypothesis that CDH1 promoter methylation might function as the 'second genetic hit' in the genesis of these cancers. 相似文献
85.
Citrinin--a fungistatic antibiotic and narrowing factor 总被引:1,自引:0,他引:1
86.
Mice homozygous for the cerebellar deficient folia (cdf) mutation are ataxic and have cerebellar hypoplasia and abnormal lobulation of the cerebellum. In the cerebella of cdf/cdf homozygous mice, approximately 40% of Purkinje cells are located ectopically in the white matter and inner granule-cell layer. Many hippocampal pyramidal cells are scattered in the plexiform layers, and those that are correctly positioned are less densely packed than are cells in wild-type mice. We show that fear conditioning and prepulse inhibition of the startle response are also disrupted in cdf/cdf mice. We identify a deletion on chromosome 6 that removes approximately 150 kb in the cdf critical region. The deletion includes part of Catna2, encoding alpha N-catenin, a protein that links the classical cadherins to the neuronal cytoskeleton. Expression of a Catna2 transgene in cdf/cdf mice restored normal cerebellar and hippocampal morphology, prepulse inhibition and fear conditioning. The findings suggest that catenin cadherin cell-adhesion complexes are important in cerebellar and hippocampal lamination and in the control of startle modulation. 相似文献
87.
Mitochondrial protein phylogeny joins myriapods with chelicerates 总被引:26,自引:0,他引:26
The animal phylum Arthropoda is very useful for the study of body plan evolution given its abundance of morphologically diverse species and our profound understanding of Drosophila development. However, there is a lack of consistently resolved phylogenetic relationships between the four extant arthropod subphyla, Hexapoda, Myriapoda, Chelicerata and Crustacea. Recent molecular studies have strongly supported a sister group relationship between Hexapoda and Crustacea, but have not resolved the phylogenetic position of Chelicerata and Myriapoda. Here we sequence the mitochondrial genome of the centipede species Lithobius forficatus and investigate its phylogenetic information content. Molecular phylogenetic analysis of conserved regions from the arthropod mitochondrial proteome yields highly resolved and congruent trees. We also find that a sister group relationship between Myriapoda and Chelicerata is strongly supported. We propose a model to explain the apparently parallel evolution of similar head morphologies in insects and myriapods. 相似文献
88.
Seungbae Park 《Foundations of Science》2011,16(1):21-30
Putnam in Realism in mathematics and Elsewhere, Cambridge University Press, Cambridge (1975) infers from the success of a
scientific theory to its approximate truth and the reference of its key term. Laudan in Philos Sci 49:19–49 (1981) objects
that some past theories were successful, and yet their key terms did not refer, so they were not even approximately true.
Kitcher in The advancement of science, Oxford University Press, New York (1993) replies that the past theories are approximately
true because their working posits are true, although their idle posits are false. In contrast, I argue that successful theories
which cohere with each other are approximately true, and that their key terms refer. My position is immune to Laudan’s counterexamples
to Putnam’s inference and yields a solution to a problem with Kitcher’s position. 相似文献
89.
Burrows DN Kennea JA Ghisellini G Mangano V Zhang B Page KL Eracleous M Romano P Sakamoto T Falcone AD Osborne JP Campana S Beardmore AP Breeveld AA Chester MM Corbet R Covino S Cummings JR D'Avanzo P D'Elia V Esposito P Evans PA Fugazza D Gelbord JM Hiroi K Holland ST Huang KY Im M Israel G Jeon Y Jeon YB Jun HD Kawai N Kim JH Krimm HA Marshall FE P Mészáros Negoro H Omodei N Park WK Perkins JS Sugizaki M Sung HI Tagliaferri G Troja E Ueda Y Urata Y Usui R Antonelli LA Barthelmy SD Cusumano G 《Nature》2011,476(7361):421-424
Supermassive black holes have powerful gravitational fields with strong gradients that can destroy stars that get too close, producing a bright flare in ultraviolet and X-ray spectral regions from stellar debris that forms an accretion disk around the black hole. The aftermath of this process may have been seen several times over the past two decades in the form of sparsely sampled, slowly fading emission from distant galaxies, but the onset of the stellar disruption event has not hitherto been observed. Here we report observations of a bright X-ray flare from the extragalactic transient Swift J164449.3+573451. This source increased in brightness in the X-ray band by a factor of at least 10,000 since 1990 and by a factor of at least 100 since early 2010. We conclude that we have captured the onset of relativistic jet activity from a supermassive black hole. A companion paper comes to similar conclusions on the basis of radio observations. This event is probably due to the tidal disruption of a star falling into a supermassive black hole, but the detailed behaviour differs from current theoretical models of such events. 相似文献
90.
A hallmark of RNA silencing is a class of approximately 22-nucleotide RNAs that are processed from double-stranded RNA precursors by Dicer. Accurate processing by Dicer is crucial for the functionality of microRNAs (miRNAs). The current model posits that Dicer selects cleavage sites by measuring a set distance from the 3' overhang of the double-stranded RNA terminus. Here we report that human Dicer anchors not only the 3' end but also the 5' end, with the cleavage site determined mainly by the distance (~22 nucleotides) from the 5' end (5' counting rule). This cleavage requires a 5'-terminal phosphate group. Further, we identify a novel basic motif (5' pocket) in human Dicer that recognizes the 5'-phosphorylated end. The 5' counting rule and the 5' anchoring residues are conserved in Drosophila Dicer-1, but not in Giardia Dicer. Mutations in the 5' pocket reduce processing efficiency and alter cleavage sites in vitro. Consistently, miRNA biogenesis is perturbed in vivo when Dicer-null embryonic stem cells are replenished with the 5'-pocket mutant. Thus, 5'-end recognition by Dicer is important for precise and effective biogenesis of miRNAs. Insights from this study should also afford practical benefits to the design of small hairpin RNAs. 相似文献