排序方式: 共有9条查询结果,搜索用时 15 毫秒
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Identification of genes that modify ataxin-1-induced neurodegeneration 总被引:55,自引:0,他引:55
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McCall BJ Huneycutt AJ Saykally RJ Geballe TR Djuric N Dunn GH Semaniak J Novotny O Al-Khalili A Ehlerding A Hellberg F Kalhori S Neau A Thomas R Osterdahl F Larsson M 《Nature》2003,422(6931):500-502
The H3+ molecular ion plays a fundamental role in interstellar chemistry, as it initiates a network of chemical reactions that produce many molecules. In dense interstellar clouds, the H3+ abundance is understood using a simple chemical model, from which observations of H3+ yield valuable estimates of cloud path length, density and temperature. But observations of diffuse clouds have suggested that H3+ is considerably more abundant than expected from the chemical models. Models of diffuse clouds have, however, been hampered by the uncertain values of three key parameters: the rate of H3+ destruction by electrons (e-), the electron fraction, and the cosmic-ray ionization rate. Here we report a direct experimental measurement of the H3+ destruction rate under nearly interstellar conditions. We also report the observation of H3+ in a diffuse cloud (towards Persei) where the electron fraction is already known. From these, we find that the cosmic-ray ionization rate along this line of sight is 40 times faster than previously assumed. If such a high cosmic-ray flux is ubiquitous in diffuse clouds, the discrepancy between chemical models and the previous observations of H3+ can be resolved. 相似文献
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Carvalho CM Ramocki MB Pehlivan D Franco LM Gonzaga-Jauregui C Fang P McCall A Pivnick EK Hines-Dowell S Seaver LH Friehling L Lee S Smith R Del Gaudio D Withers M Liu P Cheung SW Belmont JW Zoghbi HY Hastings PJ Lupski JR 《Nature genetics》2011,43(11):1074-1081
We identified complex genomic rearrangements consisting of intermixed duplications and triplications of genomic segments at the MECP2 and PLP1 loci. These complex rearrangements were characterized by a triplicated segment embedded within a duplication in 11 unrelated subjects. Notably, only two breakpoint junctions were generated during each rearrangement formation. All the complex rearrangement products share a common genomic organization, duplication-inverted triplication-duplication (DUP-TRP/INV-DUP), in which the triplicated segment is inverted and located between directly oriented duplicated genomic segments. We provide evidence that the DUP-TRP/INV-DUP structures are mediated by inverted repeats that can be separated by >300 kb, a genomic architecture that apparently leads to susceptibility to such complex rearrangements. A similar inverted repeat-mediated mechanism may underlie structural variation in many other regions of the human genome. We propose a mechanism that involves both homology-driven events, via inverted repeats, and microhomologous or nonhomologous events. 相似文献
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Summary Administration of cobra venom factor (CVF) at different time periods over a 24-h-period produced a leukocytic response which varied according to the time of day the factor was given. The resulting leukocytic circadian rhythm was achieved by a marked variation and increase in the neutrophil population.This study was supported by U. S. P. H. S. Grant No. HL 16769 and Grant No. AI 09169. 相似文献
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Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10 总被引:25,自引:0,他引:25
Matsuura T Yamagata T Burgess DL Rasmussen A Grewal RP Watase K Khajavi M McCall AE Davis CF Zu L Achari M Pulst SM Alonso E Noebels JL Nelson DL Zoghbi HY Ashizawa T 《Nature genetics》2000,26(2):191-194
Spinocerebellar ataxia type 10 (SCA10; MIM 603516; refs 1,2) is an autosomal dominant disorder characterized by cerebellar ataxia and seizures. The gene SCA10 maps to a 3.8-cM interval on human chromosome 22q13-qter (refs 1,2). Because several other SCA subtypes show trinucleotide repeat expansions, we examined microsatellites in this region. We found an expansion of a pentanucleotide (ATTCT) repeat in intron 9 of SCA10 in all patients in five Mexican SCA10 families. There was an inverse correlation between the expansion size, up to 22.5 kb larger than the normal allele, and the age of onset (r2=0.34, P=0.018). Analysis of 562 chromosomes from unaffected individuals of various ethnic origins (including 242 chromosomes from Mexican persons) showed a range of 10 to 22 ATTCT repeats with no evidence of expansions. Our data indicate that the new SCA10 intronic ATTCT pentanucleotide repeat in SCA10 patients is unstable and represents the largest microsatellite expansion found so far in the human genome. 相似文献
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