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Article
Open Access3D chromatin remodelling in the germ line modulates genome evolutionary plasticity
Chromosome folding has profound impacts on gene regulation, whose evolutionary consequences are far from being understood. Here we explore the relationship between 3D chromatin remodelling in mouse germ cells ...
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Article
Open AccessTranscriptional, epigenetic and metabolic signatures in cardiometabolic syndrome defined by extreme phenotypes
This work is aimed at improving the understanding of cardiometabolic syndrome pathophysiology and its relationship with thrombosis by generating a multi-omic disease signature.
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Article
Open AccessGenetic perturbation of PU.1 binding and chromatin loo** at neutrophil enhancers associates with autoimmune disease
Neutrophils play fundamental roles in innate immune response, shape adaptive immunity, and are a potentially causal cell type underpinning genetic associations with immune system traits and diseases. Here, we ...
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Article
Open AccessChromosome contacts in activated T cells identify autoimmune disease candidate genes
Autoimmune disease-associated variants are preferentially found in regulatory regions in immune cells, particularly CD4+ T cells. Linking such regulatory regions to gene promoters in disease-relevant cell context...
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Article
Open AccessPlatelet function is modified by common sequence variation in megakaryocyte super enhancers
Linking non-coding genetic variants associated with the risk of diseases or disease-relevant traits to target genes is a crucial step to realize GWAS potential in the introduction of precision medicine. Here w...
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Article
Open AccessIncreased DNA methylation variability in type 1 diabetes across three immune effector cell types
The incidence of type 1 diabetes (T1D) has substantially increased over the past decade, suggesting a role for non-genetic factors such as epigenetic mechanisms in disease development. Here we present an epige...
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Article
Therapy with TLR7 Agonists Induces Lymphopenia: Correlating Pharmacology to Mechanism in a Mouse Model
Synthetic TLR7 agonists have been proposed as oral replacements for interferonα (IFNα) therapy in the treatment of hepatitis C virus infection. However, adverse effects, such as lymphopenia and cardiovascular ...
