排序方式: 共有70条查询结果,搜索用时 234 毫秒
51.
Patel H Cross H Proukakis C Hershberger R Bork P Ciccarelli FD Patton MA McKusick VA Crosby AH 《Nature genetics》2002,30(4):347-348
Troyer syndrome (TRS) is an autosomal recessive complicated hereditary spastic paraplegia (HSP) that occurs with high frequency in the Old Order Amish. We report mapping of the TRS locus to chromosome 13q12.3 and identify a frameshift mutation in SPG20, encoding spartin. Comparative sequence analysis indicates that spartin shares similarity with molecules involved in endosomal trafficking and with spastin, a molecule implicated in microtubule interaction that is commonly mutated in HSP. 相似文献
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For animals who are unable to take bites out of their food, the size of the food item that can be consumed is constrained by the maximal size of the mouth opening (gape)--snakes are an example of gape-limited predators and they usually swallow their prey whole. Here we describe unique feeding behaviours in two closely related species of snake, which circumvent their gape limitation by removing and consuming pieces from newly moulted crabs that are too large to be swallowed intact. This evolutionary innovation is surprising, as the needle-like teeth and highly mobile bones that facilitate the capture and engulfment of large, whole prey by snakes are ill-suited both to cutting and to generating large bite forces. 相似文献
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Harold M. Edwards 《Archive for History of Exact Sciences》1990,41(2):163-169
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Harold Guetzkow 《上海理工大学学报》1988,(1)
The development and utilization of global/world models in the context of political implications of world economic trends is overviewed in terms of three streams of research, that of the multidisciplinary social scientists, of the econometricians, and of the system engineers. Socio-political processes impinge on world economic trends, just as such trends in turn impact on politics, both national and international. The use of simulations rich in system dynamics for the study of international affairs is found to have much potential, as documented in findings obtained by researchers throughout the world. 相似文献
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Hollingworth P Harold D Sims R Gerrish A Lambert JC Carrasquillo MM Abraham R Hamshere ML Pahwa JS Moskvina V Dowzell K Jones N Stretton A Thomas C Richards A Ivanov D Widdowson C Chapman J Lovestone S Powell J Proitsi P Lupton MK Brayne C Rubinsztein DC Gill M Lawlor B Lynch A Brown KS Passmore PA Craig D McGuinness B Todd S Holmes C Mann D Smith AD Beaumont H Warden D Wilcock G Love S Kehoe PG Hooper NM Vardy ER Hardy J Mead S Fox NC Rossor M Collinge J Maier W Jessen F Rüther E Schürmann B 《Nature genetics》2011,43(5):429-435
We sought to identify new susceptibility loci for Alzheimer's disease through a staged association study (GERAD+) and by testing suggestive loci reported by the Alzheimer's Disease Genetic Consortium (ADGC) in a companion paper. We undertook a combined analysis of four genome-wide association datasets (stage 1) and identified ten newly associated variants with P ≤ 1 × 10(-5). We tested these variants for association in an independent sample (stage 2). Three SNPs at two loci replicated and showed evidence for association in a further sample (stage 3). Meta-analyses of all data provided compelling evidence that ABCA7 (rs3764650, meta P = 4.5 × 10(-17); including ADGC data, meta P = 5.0 × 10(-21)) and the MS4A gene cluster (rs610932, meta P = 1.8 × 10(-14); including ADGC data, meta P = 1.2 × 10(-16)) are new Alzheimer's disease susceptibility loci. We also found independent evidence for association for three loci reported by the ADGC, which, when combined, showed genome-wide significance: CD2AP (GERAD+, P = 8.0 × 10(-4); including ADGC data, meta P = 8.6 × 10(-9)), CD33 (GERAD+, P = 2.2 × 10(-4); including ADGC data, meta P = 1.6 × 10(-9)) and EPHA1 (GERAD+, P = 3.4 × 10(-4); including ADGC data, meta P = 6.0 × 10(-10)). 相似文献
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A gene in the multidrug and toxic compound extrusion (MATE) family confers aluminum tolerance in sorghum 总被引:19,自引:0,他引:19
Magalhaes JV Liu J Guimarães CT Lana UG Alves VM Wang YH Schaffert RE Hoekenga OA Piñeros MA Shaff JE Klein PE Carneiro NP Coelho CM Trick HN Kochian LV 《Nature genetics》2007,39(9):1156-1161
Crop yields are significantly reduced by aluminum toxicity on highly acidic soils, which comprise up to 50% of the world's arable land. Candidate aluminum tolerance proteins include organic acid efflux transporters, with the organic acids forming non-toxic complexes with rhizosphere aluminum. In this study, we used positional cloning to identify the gene encoding a member of the multidrug and toxic compound extrusion (MATE) family, an aluminum-activated citrate transporter, as responsible for the major sorghum (Sorghum bicolor) aluminum tolerance locus, Alt(SB). Polymorphisms in regulatory regions of Alt(SB) are likely to contribute to large allelic effects, acting to increase Alt(SB) expression in the root apex of tolerant genotypes. Furthermore, aluminum-inducible Alt(SB) expression is associated with induction of aluminum tolerance via enhanced root citrate exudation. These findings will allow us to identify superior Alt(SB) haplotypes that can be incorporated via molecular breeding and biotechnology into acid soil breeding programs, thus helping to increase crop yields in developing countries where acidic soils predominate. 相似文献
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Harold J. Egoscue 《西北部美国博物学家》2011,48(4)
Collections from several scattered western localities have (1) extended the ranges in Nevada of two sagebrush vole fleas, Oropsylla bacchi johnsoni and Megabothris clantoni prince , (2) provided a second record for Utah of the rarely collected flea, Delotelis telegoni , and (3) included additional examples of unusual and seldom reported host-flea relationships for the area. 相似文献