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Article
Open AccessCirculating cell-free DNA methylation mirrors alterations in cerebral patterns in epilepsy
DNA methylation profiling of circulating cell-free DNA (cfDNA) has rapidly become a promising strategy for biomarker identification and development. The cell-type-specific nature of DNA methylation patterns an...
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Article
Open AccessEpigenetic and transcriptomic reprogramming in monocytes of severe COVID-19 patients reflects alterations in myeloid differentiation and the influence of inflammatory cytokines
COVID-19 manifests with a wide spectrum of clinical phenotypes, ranging from asymptomatic and mild to severe and critical. Severe and critical COVID-19 patients are characterized by marked changes in the myelo...
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Article
Open AccessEpigenetic regulation of B cells and its role in autoimmune pathogenesis
B cells play a pivotal role in the pathogenesis of autoimmune diseases. Although previous studies have shown many genetic polymorphisms associated with B-cell activation in patients with various autoimmune dis...
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Article
Open AccessEpigenomics and transcriptomics of systemic sclerosis CD4+ T cells reveal long-range dysregulation of key inflammatory pathways mediated by disease-associated susceptibility loci
Systemic sclerosis (SSc) is a genetically complex autoimmune disease mediated by the interplay between genetic and epigenetic factors in a multitude of immune cells, with CD4+ T lymphocytes as one of the princ...
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Article
Open AccessInflammatory cytokines and organ dysfunction associate with the aberrant DNA methylome of monocytes in sepsis
Sepsis, a life-threatening organ dysfunction caused by a dysregulated systemic immune response to infection, associates with reduced responsiveness to subsequent infections. How such tolerance is acquired is n...
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Article
Dissecting Epigenetic Dysregulation of Primary Antibody Deficiencies
Primary antibody deficiencies (PADs), the most prevalent inherited primary immunodeficiencies (PIDs), are associated with a wide range of genetic alterations (both monogenic or polygenic) in B cell-specific ge...
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Article
Epigenetic control of myeloid cell differentiation, identity and function
The interplay between transcription factors and epigenetic regulators is crucial for regulating gene-expression programmes during haematopoiesis. Epigenetic re...
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Chapter
Disruption of Epigenetic Mechanisms in Autoimmune Syndromes
Autoimmune disorders are a heterogeneous group of both systemic and organ-specific diseases characterized by the abnormal recognition of self-components by the immune system. These are genetically complex dise...
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Article
Open AccessEpigenetic alterations in autoimmune disease
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Chapter
An Introduction to Epigenetics
Eukaryotic genomic information is modulated by a variety of epigenetic modifications that play both a direct role in establishing transcription profiles, modulation of DNA replication and repair processes and ...
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Chapter
Examining DNA–Protein Interactions with Genome-Wide Chromatin Immunoprecipitation Analysis
Understanding the mechanisms by which genomic information is hierarchically organized and used by different cell and tissue types under different physiological conditions requires the detailed analysis of the ...
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Chapter
A Changing Epigenome in Health and Disease
In mammals, epigenetic modifications play an essential role both in establishing transcription profiles and in organizing DNA architecture within the cell nucleus. Specifically, the role of epigenetic modifica...
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Article
A truncating mutation of HDAC2 in human cancers confers resistance to histone deacetylase inhibition
Disruption of histone acetylation patterns is a common feature of cancer cells, but very little is known about its genetic basis. We have identified truncating mutations in one of the primary human histone dea...
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Article
Loss of acetylation at Lys16 and trimethylation at Lys20 of histone H4 is a common hallmark of human cancer
CpG island hypermethylation and global genomic hypomethylation are common epigenetic features of cancer cells. Less attention has been focused on histone modifications in cancer cells. We characterized post-tr...
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Article
The impact of MECP2 mutations in the expression patterns of Rett syndrome patients
Rett syndrome (RTT), the second most common cause of mental retardation in females, has been associated with mutations in MeCP2, the archetypical member of the methyl-CpG binding domain (MBD) family of protein...
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Article
Mi-2 complex couples DNA methylation to chromatin remodelling and histone deacetylation
Methylation of DNA at the dinucleotide CpG is essential for mammalian development and is correlated with stable transcriptional silencing1,2,3. This transcriptional silencing has recently been linked at a molecul...