39 research outputs found

    Autism as a disorder of neural information processing: directions for research and targets for therapy

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    The broad variation in phenotypes and severities within autism spectrum disorders suggests the involvement of multiple predisposing factors, interacting in complex ways with normal developmental courses and gradients. Identification of these factors, and the common developmental path into which theyfeed, is hampered bythe large degrees of convergence from causal factors to altered brain development, and divergence from abnormal brain development into altered cognition and behaviour. Genetic, neurochemical, neuroimaging and behavioural findings on autism, as well as studies of normal development and of genetic syndromes that share symptoms with autism, offer hypotheses as to the nature of causal factors and their possible effects on the structure and dynamics of neural systems. Such alterations in neural properties may in turn perturb activity-dependent development, giving rise to a complex behavioural syndrome many steps removed from the root causes. Animal models based on genetic, neurochemical, neurophysiological, and behavioural manipulations offer the possibility of exploring these developmental processes in detail, as do human studies addressing endophenotypes beyond the diagnosis itself

    Human and mouse essentiality screens as a resource for disease gene discovery.

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    The identification of causal variants in sequencing studies remains a considerable challenge that can be partially addressed by new gene-specific knowledge. Here, we integrate measures of how essential a gene is to supporting life, as inferred from viability and phenotyping screens performed on knockout mice by the International Mouse Phenotyping Consortium and essentiality screens carried out on human cell lines. We propose a cross-species gene classification across the Full Spectrum of Intolerance to Loss-of-function (FUSIL) and demonstrate that genes in five mutually exclusive FUSIL categories have differing biological properties. Most notably, Mendelian disease genes, particularly those associated with developmental disorders, are highly overrepresented among genes non-essential for cell survival but required for organism development. After screening developmental disorder cases from three independent disease sequencing consortia, we identify potentially pathogenic variants in genes not previously associated with rare diseases. We therefore propose FUSIL as an efficient approach for disease gene discovery

    The stock market impact of German reunification: international evidence

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    This study uses a country beta market model and a multivariate GARCH conditional beta model to examine if German reunification has impacted upon country returns, across different nations. The results suggest a stronger reaction in European countries particularly those with closer economic links. The analysis also revealed that the most significant individual events occur in August 1990.

    Collective identity and well-being of Bulgarian Roma adolescents and their mothers

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    In Europe and specifically in Bulgaria, Roma represent the largest indigenous ethnic minority exposed to severe discrimination, social exclusion, poverty, and compromised well-being. To improve their conditions, identifying sources of psychological well-being for Roma is theoretically relevant and practically important. This study investigated the relation between ethnic, familial, and religious identities as salient collective identity components for psychological well-being among 194 Roma adolescents (age: M = 16.11 years, SD = 1.36) and their mothers (age: M = 35.95 years, SD = 3.54). The results indicated that in line with marginalization models of acculturation, Roma youth and their mothers showed a low endorsement of both Bulgarian mainstream and Roma ethnic identity. The average scores of well-being were also low. For both groups, familial identity was stronger compared to Roma, Bulgarian, and religious identity. A path model showed that collective identity was a positive predictor of well-being in both adolescents and mothers and that the mothers' collective identity was a predictor of adolescent well-being. Bulgarian mainstream identity had the strongest relationship with collective identity. It is concluded that, for Roma youth and their mothers, family is an important identity domain as it represents the most salient identification source that is not challenged in their environment
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