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1.
The fragile X mental retardation 1 gene (FMR1) mutation is strongly correlated with specific and marked neurobehavioral and neuroanatomical abnormalities. The protein product, FMRP, is highly expressed in neurons of the normal mammalian brain, and absent or in low levels in leukocytes from individuals with fragile X (FraX)-associated mental impairment. Inferences which arise from these findings are that FMRP has a critical role in the development and functioning of the brain, and that leukocyte-derived molecular assessments provide a good indicator of FMR1 expression in that organ. This latter conclusion appears true in most cases even though the typical FMR1 mutation is an unstable triplet repeat expansion which demonstrates somatic heterogeneity within and across tissues. Blood to brain correspondence in FraX patients has only rarely been confirmed by the direct study of human brain specimens and, to our knowledge, it has never been studied in living individuals with the FMR1 mutation. In this report, we describe the FMR1 patterns in olfactory neuroblasts (ON) from two living brothers with expansion mutations in their leukocytes who are mentally retarded and autistic. ON were chosen for study because they are accessible neurons closely linked to the brain. In both subjects, the ON genotype was highly, but not perfectly, consistent with that observed in leukocytes. Protein phenotypes across tissues were completely consistent showing the absence of FMRP-immunoreactivity (-ir). These results augment the limited amount of direct evidence which indicates that FMR1 mutation patterns in leukocytes are a good, albeit potentially fallible, reflection of such patterns in the brain. This report further demonstrates the feasibility of using ON samples to evaluate the FMR1 mutation in humans in vivo.  相似文献   
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We have developed commercially viable phytoremediation/phytomining technologies employing Alyssum Ni-hyperaccumulator species to quantitatively extract Ni from soils. The majority of Ni is stored either in Alyssum leaf epidermal cell vacuoles or in the basal portions only of the numerous stellate trichomes. Here, we report simultaneous and region-specific localization of high levels of Ni, Mn, and Ca within Alyssum trichomes as determined by scanning electron microscopy/energy-dispersive X-ray analysis (SEM/EDX). Plants were grown in high Ni soil, achieving up to 48 400 microg g(-1) Ni in total leaf concentration; however, Ca and Mn were not enriched in the experimental soils. The region-specific localization of hyperaccumulated Ca, Mn, and Ni occurred in three soil types, five Alyssum species/ecotypes, and over a wide range of soil Ni concentrations. The metal concentration in the trichome basal compartment was approximately 15-20% dry weight, the highest ever reported for healthy vascular plant tissue.  相似文献   
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The techniques which can be used in the analysis of quantitative data by the methods of biometrical genetics are outlined. The need for achieving a suitable scale is noted. Data provided by experiments in psychogentics which are amenable to this type of analysis are reanalized in terms of additive, dominance and interaction components of variance. From Psyc Abstracts 36:01:3DP37B. (PsycINFO Database Record (c) 2010 APA, all rights reserved)  相似文献   
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Metabolomics seeks to measure potentially all the metabolites in a biological sample, and consequently, we need to develop and optimize methods to increase significantly the number of metabolites we can detect. We extended the closed-loop (iterative, automated) optimization system that we had previously developed for one-dimensional GC-TOF-MS (O'Hagan, S.; Dunn, W. B.; Brown, M.; Knowles, J. D.; Kell, D. B. Anal. Chem. 2005, 77, 290-303) to comprehensive two-dimensional (GCxGC) chromatography. The heuristic approach used was a multiobjective version of the efficient global optimization algorithm. In just 300 automated runs, we improved the number of metabolites observable relative to those in 1D GC by some 3-fold. The optimized conditions allowed for the detection of over 4000 raw peaks, of which some 1800 were considered to be real metabolite peaks and not impurities or peaks with a signal/noise ratio of less than 5. A variety of computational methods served to explain the basis for the improvement. This closed-loop optimization strategy is a generic and powerful approach for the optimization of any analytical instrumentation.  相似文献   
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The environmental benefits of waste desulfurization were evaluated in the Santa Catarina coal field, Brazil. Coal waste from a beneficiation plant was separated into three density fractions, using a two stage process. Characterization of these fractions indicated that the low (D?<?2.2 g/cm3) and high (D?>?2.7 g/cm3) density fractions were potentially suitable for energy and sulfuric acid production, respectively. The waste fraction of intermediate density (2.2?<?D?<?2.7 g/cm3) represented 69% of the total mass studied and had a relatively low sulfide content, and it was postulated that it may be suitable for land disposal with minimum risk to the surrounding environment. This hypothesis was tested using laboratory-scale static and kinetic tests, which indicated that although the fraction remained net acid generating, the rate and net amount of metals, salts, and acidity that leached was considerably less than that of the discards before separation. It was concluded that this approach could reduce the amount of waste generated, as well as the associated pollution risk.  相似文献   
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We provide a data mine of proven results for Multiple Zeta Values (MZVs) of the form with weight and depth k and for Euler sums of the form with signs ?i=±1. Notably, we achieve explicit proven reductions of all MZVs with weights w?22, and all Euler sums with weights w?12, to bases whose dimensions, bigraded by weight and depth, have sizes in precise agreement with the Broadhurst-Kreimer and Broadhurst conjectures. Moreover, we lend further support to these conjectures by studying even greater weights (w?30), using modular arithmetic. To obtain these results we derive a new type of relation for Euler sums, the Generalized Doubling Relations. We elucidate the “pushdown” mechanism, whereby the ornate enumeration of primitive MZVs, by weight and depth, is reconciled with the far simpler enumeration of primitive Euler sums. There is some evidence that this pushdown mechanism finds its origin in doubling relations. We hope that our data mine, obtained by exploiting the unique power of the computer algebra language form, will enable the study of many more such consequences of the double-shuffle algebra of MZVs, and their Euler cousins, which are already the subject of keen interest, to practitioners of Quantum Field Theory, and to mathematicians alike.  相似文献   
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"The procedure involves setting up a separate card file to index the collection of references, these being filed irrespective of author or content but merely according to a serial number assigned to each reference as it is added—technically the accession number. The classification of the reference is done by selecting certain words and underlining them ('tracing')." By coincidences of numbers on Uniterm cards (cards containing key words), references can be selected dealing with 2, 3, or more topics. The method is mechanical, simple, cheap, and can accommodate a variety of material. (PsycINFO Database Record (c) 2010 APA, all rights reserved)  相似文献   
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