2 resultados para Situs Inversus

em Aston University Research Archive


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Humans display structural and functional asymmetries in brain organization, strikingly with respect to language and handedness. The molecular basis of these asymmetries is unknown. We report a genome-wide association study meta-analysis for a quantitative measure of relative hand skill in individuals with dyslexia [reading disability (RD)] (n = 728). The most strongly associated variant, rs7182874 (P = 8.68×10-9), is located in PCSK6, further supporting an association we previously reported. We also confirmed the specificity of this association in individuals with RD; the same locus was not associated with relative hand skill in a general population cohort (n = 2,666). As PCSK6 is known to regulate NODAL in the development of left/right (LR) asymmetry in mice, we developed a novel approach to GWAS pathway analysis, using gene-set enrichment to test for an over-representation of highly associated variants within the orthologs of genes whose disruption in mice yields LR asymmetry phenotypes. Four out of 15 LR asymmetry phenotypes showed an over-representation (FDR≤5%). We replicated three of these phenotypes; situs inversus, heterotaxia, and double outlet right ventricle, in the general population cohort (FDR≤5%). Our findings lead us to propose that handedness is a polygenic trait controlled in part by the molecular mechanisms that establish LR body asymmetry early in development. © 2013 Brandler et al.

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Enhanced data services through mobile phones are expected to be soon fully transactional, interactive and embedded with other mobile consumption practices. While private services will continue to take the lead in the mobile data revolution, others such as government and NGOs are becoming more prominent m-players. This paper adopts a qualitative case study approach interpreting micro-level municipality officers’ mobility concept, ICT histories and choice practices for m-government services in Turkey. The findings highlight that in-situs ICT choice strategies are non-homogenous, sometimes conflicting with each other, and that current strategies have not yet justified the necessity for municipality officers to engage and fully commit to m-government efforts. Furthermore, beyond m-government initiatives’ success or failure, the mechanisms related to public administration mobile technical capacity building and knowledge transfer are identified to be directly related to m-government engagement likelihood.