排序方式: 共有36条查询结果,搜索用时 46 毫秒
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Wan J Yourshaw M Mamsa H Rudnik-Schöneborn S Menezes MP Hong JE Leong DW Senderek J Salman MS Chitayat D Seeman P von Moers A Graul-Neumann L Kornberg AJ Castro-Gago M Sobrido MJ Sanefuji M Shieh PB Salamon N Kim RC Vinters HV Chen Z Zerres K Ryan MM Nelson SF Jen JC 《Nature genetics》2012,44(6):704-708
RNA exosomes are multi-subunit complexes conserved throughout evolution and are emerging as the major cellular machinery for processing, surveillance and turnover of a diverse spectrum of coding and noncoding RNA substrates essential for viability. By exome sequencing, we discovered recessive mutations in EXOSC3 (encoding exosome component 3) in four siblings with infantile spinal motor neuron disease, cerebellar atrophy, progressive microcephaly and profound global developmental delay, consistent with pontocerebellar hypoplasia type 1 (PCH1; MIM 607596). We identified mutations in EXOSC3 in an additional 8 of 12 families with PCH1. Morpholino knockdown of exosc3 in zebrafish embryos caused embryonic maldevelopment, resulting in small brain size and poor motility, reminiscent of human clinical features, and these defects were largely rescued by co-injection with wild-type but not mutant exosc3 mRNA. These findings represent the first example of an RNA exosome core component gene that is responsible for a human disease and further implicate dysregulation of RNA processing in cerebellar and spinal motor neuron maldevelopment and degeneration. 相似文献
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Åsa Thureson-Klein Jen Wang-Yang I. K. Ho 《Cellular and molecular life sciences : CMLS》1978,34(6):773-774
Summary After morphine injection lipid accumulation in mouse hepatocytes begins within 2 h and continues for 24 h when most hepatocytes are filled with lipid droplets. In spite of morphine maintenance the liver recovers as the accumulated lipids are coupled with protein and subsequently transported and released into the perisinusoidal space of Disse.Supported by USPHS Grants GM 15490, 5 SO7 RR05386-16 and DA-01310. 相似文献
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In order to explore the possible mechanism of corticofugal modulation of excitatory frequency tuning curves (EFTCs) of midbrain
neurons, we examined the change of sharpness, frequency-intensity response area, minimum threshold of both EFTCs and inhibitory
frequency tuning curves (IFTCs) of inferior collicular neurons during corticofugal modulation using two-tone inhibition paradigm
and micro-electrical stimulation technique. Our data showed that corticofugal inhibition increased sharpness, minimum threshold,
and decreased the frequency-intensity response area of EFTCs, at the same time it decreased the sharpness, minimum threshold
but increased the frequency-intensity response area of IFTCs. The opposite results were observed for EFTCs and IFTCs of corticofugally
facilitated inferior collicular neurons. During corticofugal inhibition, the percent change of frequency-intensity response
area of EFTCs had significant correlation with the percent change of that of IFTCs. These data suggest that cortical neurons
are likely to improve frequency information processing of inferior collicular neurons by modulation of IFTCs. 相似文献
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IntroductionThemainmissionofpowerplantsimulatorsistoprovideinvaluabletrainingtoplantoperationalpersonnel.Todaythesimulatorshavebeenwidelyusedandtheirtrainingvalueshavebeenwellrecognized.Overthepastthreedecades,thesimulatorshavegonethroughseveralmajor… 相似文献
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Humans show great variation in phenotypic traits such as height, eye color and susceptibility to disease. Genomic DNA sequence differences among individuals are responsible for the inherited components of these complex traits. Reports suggest that intermediate and large-scale DNA copy number and structural variations are prevalent enough to be an important source of genetic variation between individuals. Because association studies to identify genomic loci associated with particular phenotypic traits have focused primarily on genotyping SNPs, it is important to determine whether common structural polymorphisms are in linkage disequilibrium with common SNPs, and thus can be assessed indirectly in SNP-based studies. Here we examine 100 deletion polymorphisms ranging from 70 bp to 7 kb. We show that common deletions and SNPs ascertained with similar criteria have essentially the same distribution of linkage disequilibrium with surrounding SNPs, indicating that these polymorphisms may share evolutionary history and that most deletion polymorphisms are effectively assayed by proxy in SNP-based association studies. 相似文献
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Over the past three decades, power plant simulators have gone through several major phases of evolution and they have been widely used as a valuable tool for training plant operational personnel. Looking forward, the simulators will again prove their value far beyond the traditional training applications. Simulators will serve as the engine of the envisioned "Total Plant Solution System", which will provide optimized solutions to every aspect of the plant operation including on-line plant monitoring, control, diagnostics,automation, optimization, as well as simulation and analysis. Simulators will greatly enhance operational reliability, availability, efficiency, and safety. 相似文献