Search Results - "Knight, Julian C."
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Major Histocompatibility Complex Genomics and Human Disease
Published in Annual review of genomics and human genetics (01-01-2013)“…Over several decades, various forms of genomic analysis of the human major histocompatibility complex (MHC) have been extremely successful in picking up many…”
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The association between endometriosis and autoimmune diseases: a systematic review and meta-analysis
Published in Human reproduction update (01-07-2019)“…Abstract BACKGROUND Endometriosis is a chronic gynaecological disorder that affects 2–10% of women of reproductive age. The aetiology of endometriosis is…”
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Innate Immune Activity Conditions the Effect of Regulatory Variants upon Monocyte Gene Expression
Published in Science (American Association for the Advancement of Science) (07-03-2014)“…To systematically investigate the impact of immune stimulation upon regulatory variant activity, we exposed primary monocytes from 432 healthy Europeans to…”
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XGR software for enhanced interpretation of genomic summary data, illustrated by application to immunological traits
Published in Genome medicine (13-12-2016)“…Biological interpretation of genomic summary data such as those resulting from genome-wide association studies (GWAS) and expression quantitative trait loci…”
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Identification of LZTFL1 as a candidate effector gene at a COVID-19 risk locus
Published in Nature genetics (01-11-2021)“…The severe acute respiratory syndrome coronavirus 2 (SARS‑CoV‑2) disease (COVID-19) pandemic has caused millions of deaths worldwide. Genome-wide association…”
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Genomic landscape of the individual host response and outcomes in sepsis: a prospective cohort study
Published in The lancet respiratory medicine (01-04-2016)“…Summary Background Effective targeted therapy for sepsis requires an understanding of the heterogeneity in the individual host response to infection. We…”
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Systematic identification of trans eQTLs as putative drivers of known disease associations
Published in Nature genetics (01-10-2013)“…Lude Franke and colleagues report the results of a large expression QTL study performed on peripheral blood samples from 5,311 individuals. They identify trans…”
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Distinct HLA associations of LGI1 and CASPR2-antibody diseases
Published in Brain (London, England : 1878) (01-08-2018)“…The mechanisms responsible for the generation of LGI1- or CASPR2-antibodies are unknown. Binks et al. describe two strikingly dichotomous HLA-associations,…”
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Genetics of gene expression in immunity to infection
Published in Current opinion in immunology (01-10-2014)“…Highlights • Mapping gene expression as a quantitative trait resolves functional regulatory genetic variants. • Genomic modulators of immune gene expression…”
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Expression of the multiple sclerosis-associated MHC class II Allele HLA-DRB11501 is regulated by vitamin D
Published in PLoS genetics (01-02-2009)“…Multiple sclerosis (MS) is a complex trait in which allelic variation in the MHC class II region exerts the single strongest effect on genetic risk…”
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Pathogenic implications for autoimmune mechanisms derived by comparative eQTL analysis of CD4+ versus CD8+ T cells
Published in PLoS genetics (01-03-2017)“…Inappropriate activation or inadequate regulation of CD4+ and CD8+ T cells may contribute to the initiation and progression of multiple autoimmune and…”
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Enhanced understanding of the host–pathogen interaction in sepsis: new opportunities for omic approaches
Published in The lancet respiratory medicine (01-03-2017)“…Summary Progress in sepsis research has been severely hampered by a heterogeneous disease phenotype, limiting the interpretation of clinical trials and the…”
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Genome-wide CRISPR/Cas9-knockout in human induced Pluripotent Stem Cell (iPSC)-derived macrophages
Published in Scientific reports (19-02-2021)“…Genome engineering using CRISPR/Cas9 technology enables simple, efficient and precise genomic modifications in human cells. Conventional immortalized cell…”
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Mapping the epigenomic landscape of human monocytes following innate immune activation reveals context-specific mechanisms driving endotoxin tolerance
Published in BMC genomics (07-10-2023)“…Abstract Background Monocytes are key mediators of innate immunity to infection, undergoing profound and dynamic changes in epigenetic state and immune…”
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HLA-C Level Is Regulated by a Polymorphic Oct1 Binding Site in the HLA-C Promoter Region
Published in American journal of human genetics (01-12-2016)“…Differential HLA-C levels influence several human diseases, but the mechanisms responsible are incompletely characterized. Using a validated prediction…”
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Epigenomic analysis reveals a dynamic and context-specific macrophage enhancer landscape associated with innate immune activation and tolerance
Published in Genome Biology (24-06-2022)“…Abstract Background Chromatin states and enhancers associate gene expression, cell identity and disease. Here, we systematically delineate the acute innate…”
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Regulatory polymorphisms underlying complex disease traits
Published in Journal of molecular medicine (Berlin, Germany) (01-02-2005)“…There is growing evidence that genetic variation plays an important role in the determination of individual susceptibility to complex disease traits. In…”
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Context-specific regulation of surface and soluble IL7R expression by an autoimmune risk allele
Published in Nature communications (08-10-2019)“…IL-7 is a key factor in T cell immunity and common variants at IL7R , encoding its receptor, are associated with autoimmune disease susceptibility. IL7R mRNA…”
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Using de novo assembly to identify structural variation of eight complex immune system gene regions
Published in PLoS computational biology (03-08-2021)“…Driven by the necessity to survive environmental pathogens, the human immune system has evolved exceptional diversity and plasticity, to which several factors…”
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Cell Specific eQTL Analysis without Sorting Cells
Published in PLoS genetics (01-05-2015)“…The functional consequences of trait associated SNPs are often investigated using expression quantitative trait locus (eQTL) mapping. While trait-associated…”
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