Browsing by Subject "Human genetics"
Now showing items 1-12 of 12
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Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria
(2014)We report on clinical and genetic studies in a non-consanguineous Irish sib-pair with infantile dilated cardiomyopathy and retinopathy. A diagnosis of Alström Syndrome (AS) was considered and diagnostic testing pursued. ... -
DRD2/ANKK1 polymorphism modulates the effect of ventral striatal activation on working memory performance
(2014)Motivation is important for learning and cognition. Although dopaminergic (D2) transmission in the ventral striatum (VS) is associated with motivation, learning, and cognition are more strongly associated with function of ... -
Functional Partitioning of Yeast Co-Expression Networks after Genome Duplication
(Public Library of Science, 2006)Several species of yeast, including the baker?s yeast Saccharomyces cerevisiae, underwent a genome duplication roughly 100 million years ago. We analyze genetic networks whose members were involved in this duplication. ... -
Global genetic variations predict brain response to faces
(2014)Face expressions are a rich source of social signals. Here we estimated the proportion of phenotypic variance in the brain response to facial expressions explained by common genetic variance captured by ~500,000 single ... -
Improving the efficiency of multisensory integration in older adults: audio-visual temporal discrimination training reduces the susceptibility to the sound-induced flash illusion.
(2014)From language to motor control, efficient integration of information from different sensory modalities is necessary for maintaining a coherent interaction with the environment. While a number of training studies have focused ... -
Multiple rounds of speciation associated with reciprocal gene loss in polyploid yeasts.
(2006)A whole-genome duplication occurred in a shared ancestor of the yeast species Saccharomyces cerevisiae, Saccharomyces castellii and Candida glabrata. Here we trace the subsequent losses of duplicated genes, and show that ... -
No differences in hippocampal volume between carriers and non-carriers of the ApoE ε4 and ε2 alleles in young healthy adolescents
(2014)Individuals with alcohol-dependent parents show an elevated risk of developing alcohol-related problems themselves. Modulations of the mesolimbic reward circuit have been postulated as a pre-existing marker of alcoholism. ... -
Validation in mesenchymal progenitor cells of a mutation-independent ex vivo approach to gene therapy for osteogenesis imperfecta
(Oxford University Press, 2002)Over 100 dominant-negative mutations within the COL1A1 gene have been identified in osteogenesis imperfecta (OI). In terms of human therapeutics, targeting each of these mutations independently is unlikely to be feasible. ... -
Visualizing syntenic relationships among the hemiascomycetes with the Yeast Gene Order Browser
(Oxford University Press, 2006)The Yeast Gene Order Browser (YGOB) is an online tool designed to facilitate the comparative genomic visualization and appraisal of synteny within and between the genomes of seven hemiascomycete yeast species. Three of ... -
The Yeast Gene Order Browser: combining curated homology and syntenic context reveals gene fate in polyploid species
(2005)We developed the Yeast Gene Order Browser (YGOB; http://wolfe.gen.tcd.ie/ygob) to facilitate visual comparisons and computational analysis of synteny relationships in yeasts. The data presented in YGOB, currently covering ...