Search Results - "Cole, Brian S"
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Stem-Loop Recognition by DDX17 Facilitates miRNA Processing and Antiviral Defense
Published in Cell (14-08-2014)“…DEAD-box helicases play essential roles in RNA metabolism across species, but emerging data suggest that they have additional functions in immunity. Through…”
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Eleven quick tips for architecting biomedical informatics workflows with cloud computing
Published in PLoS computational biology (01-03-2018)“…Cloud computing has revolutionized the development and operations of hardware and software across diverse technological arenas, yet academic biomedical…”
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Transcriptome-Wide RNA Interaction Profiling Reveals Physical and Functional Targets of hnRNP L in Human T Cells
Published in Molecular and Cellular Biology (01-01-2014)“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Global analysis of physical and functional RNA targets of hnRNP L reveals distinct sequence and epigenetic features of repressed and enhanced exons
Published in RNA (Cambridge) (01-12-2015)“…HnRNP L is a ubiquitous splicing-regulatory protein that is critical for the development and function of mammalian T cells. Previous work has identified a few…”
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Tyrosinase is the modifier of retinoschisis in mice
Published in Genetics (Austin) (01-12-2010)“…X-linked retinoschisis (XLRS) is a form of macular degeneration with a juvenile onset. This disease is caused by mutations in the retinoschisin (RS1) gene. The…”
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A pathogenic relationship between a regulator of the actin cytoskeleton and serum response factor
Published in Genetics (Austin) (01-09-2010)“…Cell hyperproliferation, inflammation, and angiogenesis are biological processes central to the pathogenesis of corneal disease, as well as other conditions…”
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The Role of Genetic Ancestry as a Risk Factor for Primary Open-angle Glaucoma in African Americans
Published in Investigative ophthalmology & visual science (01-02-2021)“…POAG is the leading cause of irreversible blindness in African Americans. In this study, we quantitatively assess the association of autosomal ancestry with…”
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Characteristics of p.Gln368Ter Myocilin Variant and Influence of Polygenic Risk on Glaucoma Penetrance in the UK Biobank
Published in Ophthalmology (Rochester, Minn.) (01-09-2021)“…MYOC (myocilin) mutations account for 3% to 5% of primary open-angle glaucoma (POAG) cases. We aimed to understand the true population-wide penetrance and…”
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Alternative splicing networks regulated by signaling in human T cells
Published in RNA (Cambridge) (01-05-2012)“…The formation and execution of a productive immune response requires the maturation of competent T cells and a robust change in cellular activity upon antigen…”
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Position-dependent activity of CELF2 in the regulation of splicing and implications for signal-responsive regulation in T cells
Published in RNA biology (02-06-2016)“…CELF2 is an RNA binding protein that has been implicated in developmental and signal-dependent splicing in the heart, brain and T cells. In the heart, CELF2…”
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Analysis of Gene-Gene Interactions
Published in Current protocols in human genetics (01-10-2017)“…The goal of this unit is to introduce epistasis, or gene-gene interactions, as a significant contributor to the genetic architecture of complex traits,…”
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Characteristics of Gln368Ter Myocilin variant and influence of polygenic risk on glaucoma penetrance in the UK Biobank
Published in Ophthalmology (Rochester, Minn.) (10-03-2021)Get full text
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13
Design and Implementation of the International Genetics and Translational Research in Transplantation Network
Published in Transplantation (01-11-2015)“…BACKGROUNDGenetic association studies of transplantation outcomes have been hampered by small samples and highly complex multifactorial phenotypes, hindering…”
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Taming the Firehose: Unsupervised Machine Learning for Syntactic Partitioning of Large Volumes of Automatically Generated Items to Assist Automated Test Assembly
Published in Journal of applied testing technology (2020)“…Automatic item generation can rapidly generate large volumes of exam items, but this creates challenges for assembly of exams which aim to include…”
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Palliative care for the terminally ill
Published in Medical journal of Australia (17-06-1996)Get more information
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