排序方式: 共有148条查询结果,搜索用时 15 毫秒
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Vissers LE van Ravenswaaij CM Admiraal R Hurst JA de Vries BB Janssen IM van der Vliet WA Huys EH de Jong PJ Hamel BC Schoenmakers EF Brunner HG Veltman JA van Kessel AG 《Nature genetics》2004,36(9):955-957
CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlapping microdeletion on chromosome 8q12 identified by array comparative genomic hybridization in two individuals with CHARGE syndrome. Sequence analysis of genes located in this region detected mutations in the gene CHD7 in 10 of 17 individuals with CHARGE syndrome without microdeletions, accounting for the disease in most affected individuals. 相似文献
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Read TD Peterson SN Tourasse N Baillie LW Paulsen IT Nelson KE Tettelin H Fouts DE Eisen JA Gill SR Holtzapple EK Okstad OA Helgason E Rilstone J Wu M Kolonay JF Beanan MJ Dodson RJ Brinkac LM Gwinn M DeBoy RT Madpu R Daugherty SC Durkin AS Haft DH Nelson WC Peterson JD Pop M Khouri HM Radune D Benton JL Mahamoud Y Jiang L Hance IR Weidman JF Berry KJ Plaut RD Wolf AM Watkins KL Nierman WC Hazen A Cline R Redmond C Thwaite JE White O Salzberg SL Thomason B Friedlander AM Koehler TM Hanna PC 《Nature》2003,423(6935):81-86
Bacillus anthracis is an endospore-forming bacterium that causes inhalational anthrax. Key virulence genes are found on plasmids (extra-chromosomal, circular, double-stranded DNA molecules) pXO1 (ref. 2) and pXO2 (ref. 3). To identify additional genes that might contribute to virulence, we analysed the complete sequence of the chromosome of B. anthracis Ames (about 5.23 megabases). We found several chromosomally encoded proteins that may contribute to pathogenicity--including haemolysins, phospholipases and iron acquisition functions--and identified numerous surface proteins that might be important targets for vaccines and drugs. Almost all these putative chromosomal virulence and surface proteins have homologues in Bacillus cereus, highlighting the similarity of B. anthracis to near-neighbours that are not associated with anthrax. By performing a comparative genome hybridization of 19 B. cereus and Bacillus thuringiensis strains against a B. anthracis DNA microarray, we confirmed the general similarity of chromosomal genes among this group of close relatives. However, we found that the gene sequences of pXO1 and pXO2 were more variable between strains, suggesting plasmid mobility in the group. The complete sequence of B. anthracis is a step towards a better understanding of anthrax pathogenesis. 相似文献
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Erik J. Bonten Ida Annunziata Alessandra d’Azzo 《Cellular and molecular life sciences : CMLS》2014,71(11):2017-2032
The ubiquitous distribution of lysosomes and their heterogeneous protein composition reflects the versatility of these organelles in maintaining cell homeostasis and their importance in tissue differentiation and remodeling. In lysosomes, the degradation of complex, macromolecular substrates requires the synergistic action of multiple hydrolases that usually work in a stepwise fashion. This catalytic machinery explains the existence of lysosomal enzyme complexes that can be dynamically assembled and disassembled to efficiently and quickly adapt to the pool of substrates to be processed or degraded, adding extra tiers to the regulation of the individual protein components. An example of such a complex is the one composed of three hydrolases that are ubiquitously but differentially expressed: the serine carboxypeptidase, protective protein/cathepsin A (PPCA), the sialidase, neuraminidase-1 (NEU1), and the glycosidase β-galactosidase (β-GAL). Next to this ‘core’ complex, the existence of sub-complexes, which may contain additional components, and function at the cell surface or extracellularly, suggests as yet unexplored functions of these enzymes. Here we review how studies of basic biological processes in the mouse models of three lysosomal storage disorders, galactosialidosis, sialidosis, and GM1-gangliosidosis, revealed new and unexpected roles for the three respective affected enzymes, Ppca, Neu1, and β-Gal, that go beyond their canonical degradative activities. These findings have broadened our perspective on their functions and may pave the way for the development of new therapies for these lysosomal storage disorders. 相似文献
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Many types of experiments have been recognized in the literature. One important type we discuss in this article is the orientation experiment. While orientation experiments are like other types of experiments in that they are tests for causal relevance, they also have other qualities. One important (but not the only) goal of these experiments is to offer a rough, qualitative characterization of the mechanism responsible for a capacity of interest, effectively constraining future research. This makes them particularly useful during the early stages of investigation, when an explanandum-phenomenon has just been identified and several (often competing) hypotheses as to the qualitative character of the mechanism responsible for it are proposed. We illustrate our claims, and explicate a number of additional aims that orientation experiments can sometimes serve, by considering three case studies from different era's, namely the discovery of the mechanisms responsible for i) the capacity of eels to produce numbing sensations (17th and 18th century), ii) puerperal fever in Semmelweis' Vienna Maternity Hospital (19th century), and iii) the capacity of pigeons to home (20th century). 相似文献
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Marchis F Hestroffer D Descamps P Berthier J Bouchez AH Campbell RD Chin JC van Dam MA Hartman SK Johansson EM Lafon RE Le Mignant D de Pater I Stomski PJ Summers DM Vachier F Wizinovich PL Wong MH 《Nature》2006,439(7076):565-567
The Trojan population consists of two swarms of asteroids following the same orbit as Jupiter and located at the L4 and L5 stable Lagrange points of the Jupiter-Sun system (leading and following Jupiter by 60 degrees ). The asteroid 617 Patroclus is the only known binary Trojan. The orbit of this double system was hitherto unknown. Here we report that the components, separated by 680 km, move around the system's centre of mass, describing a roughly circular orbit. Using this orbital information, combined with thermal measurements to estimate the size of the components, we derive a very low density of 0.8(- 0.1)+0.2 g cm(-3). The components of 617 Patroclus are therefore very porous or composed mostly of water ice, suggesting that they could have been formed in the outer part of the Solar System. 相似文献
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HOW ARE PRODUCT-SERVICE COMBINED OFFERS PROVIDED IN GERMANY AND ITALY? ANALYSIS WITH COMPANY SIZES AND COUNTRIES 总被引:1,自引:1,他引:0
Tomohiko SAKAO Nicola NAPOLITANO Massimo TRONCI Erik SUNDIN Mattias LINDAHL 《系统科学与系统工程学报(英文版)》2008,17(3):367-381
A new business concept that offers products and services in a different way of traditional product-sales businesses is getting more attention especially in manufacturing industries. This paper investigates how this new business by means of integration of products and services is achieved in Germany and Italy. In addition, it analyzes the differences according to the company sizes. The results include that this type of business is in many cases motivated by their focus on customers and often consists of physical products and their maintenance. The Italian companies, as opposed to the German ones, often design their physical products specifically for this type of offers. From the analysis based on the size difference, small companies are found to achieve specific design for this type of offers while owning physical products. There do not seem to be any established methods or tools developed to support the development of such offers and within such methods/tools there would be room for more adaptation in form of physical product design. 相似文献
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Erik Claes 《Foundations of Science》2016,21(2):381-384
This final reply responds to Honohan’s invitation to articulate the Arendtian tone of the key-note paper. It spells out the philosophical intuition that the political life of citizens, at least potentially, is capable of making visible what makes human life worthwhile and fully meaningful, and the philosophical curiosity to see whether traces of this deep political awareness can be retrieved in dialogues with volunteers. In response to Dekker’s critical doubts, this final reply clarifies the central stakes of Claes’s paper. The core argument was not to show that the biographical model of meaningfulness is the prevailing approach of meaning in/of volunteering, but to assess the potentials and limits of the model’s interpretive power. Moreover, the paper argues for an alternative, existential model of meaningfulness. This approach refers to deep experiences of meaning that emerge from the practice of volunteering and that shift into powerful political experiences of hope, and a lived sense of equality. 相似文献
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