21 research outputs found

    A genome-wide association study in multiple system atrophy

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    Objective: To identify genetic variants that play a role in the pathogenesis of multiple system atrophy (MSA), we undertook a genome-wide association study (GWAS). Methods: We performed a GWAS with .5 million genotyped and imputed single nucleotide polymorphisms (SNPs) in 918 patients with MSA of European ancestry and 3,864 controls. MSA cases were collected from North American and European centers, one third of which were neuropathologically confirmed. Results: We found no significant loci after stringent multiple testing correction. A number of regions emerged as potentially interesting for follow-up at p , 1 3 1026, including SNPs in the genes FBXO47, ELOVL7, EDN1, and MAPT. Contrary to previous reports, we found no association of the genes SNCA and COQ2 with MSA. Conclusions: We present a GWAS in MSA.We have identified several potentially interesting gene loci, including the MAPT locus, whose significance will have to be evaluated in a larger sample set. Common genetic variation in SNCA and COQ2 does not seem to be associated with MSA. In the future, additional samples of well-characterized patients with MSA will need to be collected to perform a larger MSA GWAS, but this initial study forms the basis for these next steps

    Charmonium Production in Deep Inelastic Scattering at HERA

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    The electroproduction of J/psi and psi(2S) mesons is studied in elastic, quasi-elastic and inclusive reactions for four momentum transfers 2 Q^2 80 GeV^2 and photon-proton centre of mass energies 25 W 180 GeV. The data were taken with the H1 detector at the electron proton collider HERA in the years 1995 to 1997. The total virtual photon-proton cross section for elastic J/psi production is measured as a function of Q^2 and W. The dependence of the production rates on the square of the momentum transfer from the proton (t) is extracted. Decay angular distributions are analysed and the ratio of the longitudinal and transverse cross sections is derived. The ratio of the cross sections for quasi-elastic psi(2S) and J/psi meson production is measured as a function of Q^2. The results are discussed in terms of theoretical models based upon perturbative QCD. Differential cross sections for inclusive and inelastic production of J/psi mesons are determined and predictions within two theoretical frameworks are compared with the data, the non-relativistic QCD factorization approach including colour octet and colour singlet contributions, and the model of Soft Colour Interactions

    Immunology of infections with Cryptococcus neoformans

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    Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

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    Correction to: Nature Genetics https://doi.org/10.1038/s41588-021-00973-1, published online 6 December 2021. In the version of this article initially published, the affiliation for Nazli Başak appeared incorrectly. Nazli Başak is at Koç University, School of Medicine, KUTTAM-NDAL, Istanbul, Turkey, and not Bogazici University. The error has been corrected in the HTML and PDF versions of the article
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