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Research papers on Epigenetics and disease

Recent and highly-cited academic work on epigenetics and disease, gathered from Semantic Scholar, CrossRef and OpenAlex.

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  1. The Key Role of Epigenetics in Human Disease Prevention and Mitigation

    A. Feinberg · 2018 · The New England journal of medicine · 500 citations

    Epigenetics in Disease Prevention and Mitigation Epigenetics is the regulation of gene expression through alterations in DNA or associated factors (other than the DNA sequence). These factors control the diverse manifestations of diseases. Insights into epigenetic modification may lead to new therapies for common diseases.

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  2. The Impact of Nutrition and Environmental Epigenetics on Human Health and Disease

    C. Tiffon · 2018 · International Journal of Molecular Sciences · 373 citations

    Environmental epigenetics describes how environmental factors affect cellular epigenetics and, hence, human health. Epigenetic marks alter the spatial conformation of chromatin to regulate gene expression. Environmental factors with epigenetic effects include behaviors, nutrition, and chemicals and industrial pollutants. Epigenetic mechanisms are also implicated during development in utero and at the cellular level, so environmental exposures may harm the fetus by impairing the epigenome of the developing organism to modify disease risk later in life. By contrast, bioactive food components may trigger protective epigenetic modifications throughout life, with early life nutrition being partic

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  3. The Role of Epigenetics in Autoimmune/Inflammatory Disease

    Anna E. A. Surace, C. Hedrich · 2019 · Frontiers in Immunology · 245 citations

    Historically, systemic self-inflammatory conditions were classified as either autoinflammatory and caused by the innate immune system or autoimmune and driven by adaptive immune responses. However, it became clear that reality is much more complex and that autoimmune/inflammatory conditions range along an “inflammatory spectrum” with primarily autoinflammatory vs. autoimmune conditions resembling extremes at either end. Epigenetic modifications influence gene expression and alter cellular functions without modifying the genomic sequence. Methylation of CpG DNA dinucleotides and/or their hydroxymethylation, post-translational modifications to amino termini of histone proteins, and non-coding

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  4. Epigenetics in liver disease: from biology to therapeutics

    T. Hardy, D. Mann · 2016 · Gut · 155 citations

    Knowledge of the fundamental epigenetic mechanisms governing gene expression and cellular phenotype are sufficiently advanced that novel insights into the epigenetic control of chronic liver disease are now emerging. Hepatologists are in the process of shedding light on the roles played by DNA methylation, histone/chromatin modifications and non-coding RNAs in specific liver pathologies. Alongside these discoveries are advances in the technologies for the detection and quantification of epigenetic biomarkers, either directly from patient tissue or from body fluids. The premise for this review is to survey the recent advances in the field of liver epigenetics and to explore their potential fo

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  5. Smoking induces coordinated DNA methylation and gene expression changes in adipose tissue with consequences for metabolic health

    Pei-Chien Tsai, C. Glastonbury, M. Eliot, et al. · 2018 · Clinical Epigenetics · 139 citations

    Tobacco smoking is a risk factor for multiple diseases, including cardiovascular disease and diabetes. Many smoking-associated signals have been detected in the blood methylome, but the extent to which these changes are widespread to metabolically relevant tissues, and impact gene expression or metabolic health, remains unclear. We investigated smoking-associated DNA methylation and gene expression variation in adipose tissue biopsies from 542 healthy female twins. Replication, tissue specificity, and longitudinal stability of the smoking-associated effects were explored in additional adipose, blood, skin, and lung samples. We characterized the impact of adipose tissue smoking methylation an

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  6. How epigenetics impacts on human diseases.

    A. Farsetti, B. Illi, C. Gaetano · 2023 · European journal of internal medicine · 139 citations

    Epigenetics is a rapidly growing field of biology that studies the changes in gene expression that are not due to alterations in the DNA sequence but rather the chemical modifications of DNA and its associated proteins. Epigenetic mechanisms can profoundly influence gene expression, cell differentiation, tissue development, and disease susceptibility. Understanding epigenetic changes is essential to elucidate the mechanisms underlying the increasingly recognized role of environmental and lifestyle factors in health and disease and the intergenerational transmission of phenotypes. Recent studies suggest epigenetics may be critical in various diseases, from cardiovascular disease and cancer to

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  7. Epigenetics of aging and disease: a brief overview

    C. Pagiatakis, Elettra Musolino, R. Gornati, et al. · 2019 · Aging Clinical and Experimental Research · 100 citations

    Aging is an important risk factor for several human diseases such as cancer, cardiovascular disease and neurodegenerative disorders, resulting from a combination of genetic and environmental factors (e.g., diet, smoking, obesity and stress), which, at molecular level, cause changes in gene expression underlying the decline of physiological function. Epigenetics, which include mechanisms regulating gene expression independently of changes to DNA sequence, regulate gene expression by modulating the structure of chromatin or by regulating the binding of transcriptional machinery to DNA. Several studies showed that an impairment of epigenetic mechanisms promotes alteration of gene expression und

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  8. Translational Perspective on Epigenetics in Cardiovascular Disease

    P. van der Harst, L. D. de Windt, J. Chambers · 2017 · Journal of the American College of Cardiology · 97 citations

    A plethora of environmental and behavioral factors interact, resulting in changes in gene expression and providing a basis for the development and progression of cardiovascular diseases. Heterogeneity in gene expression responses among cells and individuals involves epigenetic mechanisms. Advancing technology allowing genome-scale interrogation of epigenetic marks provides a rapidly-expanding view of the complexity and diversity of the epigenome. In this review, we discuss the expanding landscape of epigenetic modifications and highlight their importance for our future understanding of disease. The epigenome provides a mechanistic link between environmental exposures and gene expression prof

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  9. The prima donna of epigenetics: the regulation of gene expression by DNA methylation.

    K. Santos, T. Mazzola, H. Carvalho · 2005 · Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas · 82 citations

    This review focuses on the mechanisms of DNA methylation, DNA methylation pattern formation and their involvement in gene regulation. Association of DNA methylation with imprinting, embryonic development and human diseases is discussed. Furthermore, besides considering changes in DNA methylation as mechanisms of disease, the role of epigenetics in general and DNA methylation in particular in transgenerational carcinogenesis, in memory formation and behavior establishment are brought about as mechanisms based on the cellular memory of gene expression patterns.

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  10. Identification of potential blood biomarkers for Parkinson’s disease by gene expression and DNA methylation data integration analysis

    Changliang Wang, Liang Chen, Yang Yang, et al. · 2019 · Clinical Epigenetics · 69 citations

    Blood-based gene expression or epigenetic biomarkers of Parkinson’s disease (PD) are highly desirable. However, accuracy and specificity need to be improved, and methods for the integration of gene expression with epigenetic data need to be developed in order to make this feasible. Whole blood gene expression data and DNA methylation data were downloaded from Gene Expression Omnibus (GEO) database. A linear model was used to identify significantly differentially expressed genes (DEGs) and differentially methylated genes (DMGs) according to specific gene regions 5′—C—phosphate—G—3′ (CpGs) or all gene regions CpGs in PD. Gene set enrichment analysis was then applied to DEGs and DMGs. Subsequen

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  11. Role of Genetics and Epigenetics in the Pathogenesis of Alzheimer’s Disease and Frontotemporal Dementia

    C. Fenoglio, E. Scarpini, M. Serpente, et al. · 2018 · Journal of Alzheimer's Disease · 69 citations

    Alzheimer’s disease (AD) and frontotemporal dementia (FTD) represent the first cause of dementia in senile and pre-senile population, respectively. A percentage of cases have a genetic cause, inherited with an autosomal dominant pattern of transmission. The majority of cases, however, derive from complex interactions between a number of genetic and environmental factors. Gene variants may act as risk or protective factors. Their combination with a variety of environmental exposures may result in increased susceptibility to these diseases or may influence their course. The scenario is even more complicated considering the effect of epigenetics, which encompasses mechanisms able to alter the e

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