52 research outputs found

    Identification of regulatory variants associated with genetic susceptibility to meningococcal disease.

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    Non-coding genetic variants play an important role in driving susceptibility to complex diseases but their characterization remains challenging. Here, we employed a novel approach to interrogate the genetic risk of such polymorphisms in a more systematic way by targeting specific regulatory regions relevant for the phenotype studied. We applied this method to meningococcal disease susceptibility, using the DNA binding pattern of RELA - a NF-kB subunit, master regulator of the response to infection - under bacterial stimuli in nasopharyngeal epithelial cells. We designed a custom panel to cover these RELA binding sites and used it for targeted sequencing in cases and controls. Variant calling and association analysis were performed followed by validation of candidate polymorphisms by genotyping in three independent cohorts. We identified two new polymorphisms, rs4823231 and rs11913168, showing signs of association with meningococcal disease susceptibility. In addition, using our genomic data as well as publicly available resources, we found evidences for these SNPs to have potential regulatory effects on ATXN10 and LIF genes respectively. The variants and related candidate genes are relevant for infectious diseases and may have important contribution for meningococcal disease pathology. Finally, we described a novel genetic association approach that could be applied to other phenotypes

    Entwicklung und Untersuchung eines katalytischen Strahlungsbrenners zur NOx-armen Verbrennung von Methanol

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    Entwicklung und Untersuchung eines katalytischen Strahlungsbrenners zur NOx_{x}-armen Verbrennung von Methanol

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    This report describes the behaviour of a catalytic radiant burner firing methanol in dependence upon the most important system and operating parameters. In the existing burner the methanol is first vaporized and then mixed with the combustion air. This mixture then passes through a fibrous cylindrical support structure. It is burning only at the outer surface which is covered with platinum coated wire meshs. The heat generation in this reaction zone is largely transmitted by means of thermal radiation to a heat exchanger. Thus high thermal efficiencies were reached. Due to the flameless combustion the burner operates noiseless and does not form soot. Furthermore, nitrogen oxides are approximately zero due to the relatively low reaction temperature

    Energiespeicherung mit Wasserstoff

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