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Maller JB Fagerness JA Reynolds RC Neale BM Daly MJ Seddon JM 《Nature genetics》2007,39(10):1200-1201
The association of variants in complement factors H and B with age-related macular degeneration has led to more intense genetic and functional analysis of the complement pathway. We identify a nonsynonymous coding change in complement factor 3 that is strongly associated with risk of age-related macular degeneration in a large case-control sample. 相似文献
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Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration 总被引:12,自引:0,他引:12
Maller J George S Purcell S Fagerness J Altshuler D Daly MJ Seddon JM 《Nature genetics》2006,38(9):1055-1059
Age-related macular degeneration (AMD) is a common, late-onset disease with seemingly typical complexity: recurrence ratios for siblings of an affected individual are three- to sixfold higher than in the general population, and family-based analysis has resulted in only modestly significant evidence for linkage. In a case-control study drawn from a US-based population of European descent, we have identified a previously unrecognized common, noncoding variant in CFH, the gene encoding complement factor H, that substantially increases the influence of this locus on AMD, and we have strongly replicated the associations of four other previously reported common alleles in three genes (P values ranging from 10(-6) to 10(-70)). Despite excellent power to detect epistasis, we observed purely additive accumulation of risk from alleles at these genes. We found no differences in association of these loci with major phenotypic categories of advanced AMD. Genotypes at these five common SNPs define a broad spectrum of interindividual disease risk and explain about half of the classical sibling risk of AMD in our study population. 相似文献
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A rare penetrant mutation in CFH confers high risk of age-related macular degeneration 总被引:1,自引:0,他引:1
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The distillation and volatility of ionic liquids 总被引:2,自引:0,他引:2
Earle MJ Esperança JM Gilea MA Lopes JN Rebelo LP Magee JW Seddon KR Widegren JA 《Nature》2006,439(7078):831-834
It is widely believed that a defining characteristic of ionic liquids (or low-temperature molten salts) is that they exert no measurable vapour pressure, and hence cannot be distilled. Here we demonstrate that this is unfounded, and that many ionic liquids can be distilled at low pressure without decomposition. Ionic liquids represent matter solely composed of ions, and so are perceived as non-volatile substances. During the last decade, interest in the field of ionic liquids has burgeoned, producing a wealth of intellectual and technological challenges and opportunities for the production of new chemical and extractive processes, fuel cells and batteries, and new composite materials. Much of this potential is underpinned by their presumed involatility. This characteristic, however, can severely restrict the attainability of high purity levels for ionic liquids (when they contain poorly volatile components) in recycling schemes, as well as excluding their use in gas-phase processes. We anticipate that our demonstration that some selected families of commonly used aprotic ionic liquids can be distilled at 200-300 degrees C and low pressure, with concomitant recovery of significant amounts of pure substance, will permit these currently excluded applications to be realized. 相似文献
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Borra EF Seddiki O Angel R Eisenstein D Hickson P Seddon KR Worden SP 《Nature》2007,447(7147):979-981
An optical/infrared telescope of 20-100 m aperture located on the Moon would be able to observe objects 100 to 1,000 times fainter than the proposed next generation of space telescopes. The infrared region of the spectrum is particularly important for observations of objects at redshifts z > 7. The apparent simplicity and low mass of a liquid mirror telescope, compared with a traditional pointable glass mirror, suggest that the concept should be considered further. A previously proposed liquid mirror telescope, based upon a spinning liquid metallic alloy, is not appropriate for infrared applications, which will require a liquid below 130 K. Here we report the successful coating of an ionic liquid with silver. The surface is smooth and the silver coating is stable on a timescale of months. The underlying ionic liquid does not evaporate in a vacuum and remains liquid down to a temperature of 175 K. Given that there are approximately 10(6) simple and approximately 10(18) ternary ionic liquids, it should be possible to synthesize liquids with even lower melting temperatures. 相似文献
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FOR practical applications in optoelectronic devices, nonlinear optical materials should ideally combine appropriate optical properties (that is, a nonlinear response to an electric field, characterized by second-harmonic generation) with the mechanical properties, such as strength and rigidity, required for ease of processibility. As reported here, we have developed a new class of material that combines these attributes, by growing aligned crystals of an optically nonlinear organic compound in a transparent polymer matrix. The host conveys desirable mechanical characteristics to the otherwise fragile organic crystals. The composites are transparent and non-scattering, with a refractive index that can be varied by modification of the polymer host. Given, in addition, the high chemical stability of these materials, we believe that they will have an important part to play in the development of optoelectronic devices. 相似文献
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