1,014 research outputs found

    Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus

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    A basic problem in genetic counseling of families with Duchenne/Becker muscular dystrophy (DMD/BMD) concerns the carrier status of female relatives of an affected male. In about 60% of these patients, deletions of one or more exons of the dystrophin gene can be identified. These deletions preferentially include exon 45, which can be detected by multiplex polymerase chain reaction (PCR) and Southern blot analysis of genomic cosmid clones that map to this critical region. As a new approach for definitive carrier detection, we have performed chromosomal in situ suppression (CISS) hybridization with these cosmid clones in female relatives of four unrelated patients. In normal females, most metaphases showed signals on both×chromosomes, whereas only one×chromosome was labeled in carriers. Our results demonstrate that CISS hybridization can define the carrier status in female relatives of DMD patients exhibiting a deletion in the dystrophin gene

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    Size distribution prediction of nanoparticle agglomerates in a fluidized bed

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    Nanoparticles have acquired considerable attention from academia and industry due to their unique properties arising from the large surface area to volume ratio. A promising method to process these particles is fluidization. Furthermore, it is worth knowing that nanoparticles fluidize as clusters called agglomerates, formed by the relatively strong adhesion forces among the individual particles (1). These agglomerates are large, highly porous fractal structures; thus, easy to access but extremely fragile. During fluidization, agglomerates move, collide, break, reform, deform, and combine, which make them suitable for a wide range of applications. Nanopowders can fluidize with bubbles or uniformly, which show different dynamics that might affect the morphology of the fluidized agglomerates. In order to better understand the dynamic behaviour of the system, it is crucial to know the agglomerate size distribution within the fluidized bed. Therefore, we developed a model based on a simple force balance to predict the agglomerate size distribution, which enables the optimization of processing methods. Please click Additional Files below to see the full abstract

    The selective reduction of NOx with NH3 over zirconia-supported vanadia catalysts

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    A series of sub-monolayer vanadia-on-zirconia catalysts have been prepared and the activities of these have been measured for the selective reduction of NO with NH3. It has been found that the activity per vanadium surface species depends on the square of the vanadium surface coverage. We therefore conclude that clusters of vanadia species on the surface of the catalysts are responsible for the de-NOx activity rather than isolated vanadia surface molecules

    The selective reduction of NOx with NH3 over zirconia-supported vanadia catalysts

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    A series of sub-monolayer vanadia-on-zirconia catalysts have been prepared and the activities of these have been measured for the selective reduction of NO with NH3. It has been found that the activity per vanadium surface species depends on the square of the vanadium surface coverage. We therefore conclude that clusters of vanadia species on the surface of the catalysts are responsible for the de-NOx activity rather than isolated vanadia surface molecules

    New methods for next generation sequencing based microRNA expression profiling

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    <p>Abstract</p> <p>Background</p> <p>MicroRNAs are small non-coding RNA transcripts that regulate post-transcriptional gene expression. The millions of short sequence reads generated by next generation sequencing technologies make this technique explicitly suitable for profiling of known and novel microRNAs. A modification to the small-RNA expression kit (SREK, Ambion) library preparation method for the SOLiD sequencing platform is described to generate microRNA sequencing libraries that are compatible with the Illumina Genome Analyzer.</p> <p>Results</p> <p>High quality sequencing libraries can successfully be prepared from as little as 100 ng small RNA enriched RNA. An easy to use perl-based analysis pipeline called E-miR was developed to handle the sequencing data in several automated steps including data format conversion, 3' adapter removal, genome alignment and annotation to non-coding RNA transcripts. The sample preparation and E-miR pipeline were used to identify 37 cardiac enriched microRNAs in stage 16 chicken embryos. Isomir expression profiles between the heart and embryo were highly correlated for all miRNAs suggesting that tissue or cell specific miRNA modifications do not occur.</p> <p>Conclusions</p> <p>In conclusion, our alternative sample preparation method can successfully be applied to generate high quality miRNA sequencing libraries for the Illumina genome analyzer.</p
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