Medical Research Council

About: Medical Research Council is a government organization based out in London, United Kingdom. It is known for research contribution in the topics: Population & Malaria. The organization has 16430 authors who have published 19150 publications receiving 1475494 citations.

Lexical representation and process

Abstract: How do humans understand and produce language? "Lexical Representation and Process" is the first collection to cover the full range of lexical representations and their role in language processing. The 18 contributions focus on psychological models of lexical processing, the nature of the input, lexical structure and process, and parsing and interpretation. "Lexical Representation and Process "provides a coherent and well documented frame of reference for a field of study that is becoming a central to both linguistics and psycholinguistics. It includes a wide variety of approaches from the radical alternative of new connectionist models, through new developments in traditional symbolic approaches, to the reemphasis on linguistic concepts as a crucial input to psycholinguistic models. The contributors are William Marslen Wilson, Ken Forster, Mark Seidenberg, Gary Dell, Dennis Matt, Jeff Elman, Keith Rayner, David Balota, Derek Besner, James Johnston, Uli Frauenfelder, Aditi Lahiri, Anne Cutler, Leslie Henderson, Jorge Hankamer, Rob Schreuder, Ino Flores D'Arcais, Lyn Frazier, Lorraine Tyler, Mark Steedman, Mike Tanenhaus, and Greg Carlson. William Marslen Wilson is a Senior Scientist at the Medical Research Council Applied Psychology Unit in Cambridge, England. A Bradford Book

The C. elegans genome sequencing project: a beginning.

Abstract: The long-term goal of this project is the elucidation of the complete sequence of the Caenorhabditis elegans genome. During the first year methods have been developed and a strategy implemented that is amenable to large-scale sequencing. The three cosmids sequenced in this initial phase are surprisingly rich in genes, many of which have mammalian homologues.

Global Consensus Recommendations on Prevention and Management of Nutritional Rickets

Abstract: Background: Vitamin D and calcium deficiencies are common worldwide, causing nutritional rickets and osteomalacia, which have a major impact on health, growth, an

Imprinted expression of the murine Angelman syndrome gene, Ube3a , in hippocampal and Purkinje neurons

Abstract: Angelman syndrome (AS) is a human genetic disorder characterized by mental retardation, seizures, inappropriate laughter, abnormal galt, tremor and ataxia. There is strong genetic evidence that the disorder is associated with a maternally expressed, imprinted gene mapping to chromosome 15q11-13. Affected patients demonstrate varied molecular abnormalities, including large maternal deletions, uniparental paternal disomy (UPD). Imprinting mutations and loss of function mutations of E6-associated-protein (E6-AP) ubiquitin-protein ligase (UBE3A). All of these abnormalities are associated with loss of maternal expression of UBE3A. Although mutations in UBE3A cause AS, indicating that maternal-specific expression of UBE3A is essential for a normal phenotype, evidence for maternal-specific expression of UBE3A has been lacking. Using mice with partial paternal UPD encompassing Ube3a to differentiate maternal and paternal expression, we found by in situ hybridization that expression of Ube3a in Purkinje cells, hippocampal neurons and mitral cells of the olfactory bulb in UPD mice was markedly reduced compared to non-UPD littermates. In contrast, expression of Ube3a in other regions of the brain was only moderately or not at all reduced in UPD mice. The major phenotypic features of AS correlate with the loss of maternal-specific expression of Ube3a in hippocampus and cerebellum as revealed in the mouse model.

The African Genome Variation Project shapes medical genetics in Africa

Abstract: Given the importance of Africa to studies of human origins and disease susceptibility, detailed characterization of African genetic diversity is needed. The African Genome Variation Project provides a resource with which to design, implement and interpret genomic studies in sub-Saharan Africa and worldwide. The African Genome Variation Project represents dense genotypes from 1,481 individuals and whole-genome sequences from 320 individuals across sub-Saharan Africa. Using this resource, we find novel evidence of complex, regionally distinct hunter-gatherer and Eurasian admixture across sub-Saharan Africa. We identify new loci under selection, including loci related to malaria susceptibility and hypertension. We show that modern imputation panels (sets of reference genotypes from which unobserved or missing genotypes in study sets can be inferred) can identify association signals at highly differentiated loci across populations in sub-Saharan Africa. Using whole-genome sequencing, we demonstrate further improvements in imputation accuracy, strengthening the case for large-scale sequencing efforts of diverse African haplotypes. Finally, we present an efficient genotype array design capturing common genetic variation in Africa.