FolioStart free

Biology · Literature

Research papers on Epigenetics and disease

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

Search all 200M+ papers on this topic, free →Or track new epigenetics and disease papers automatically as they publish

  2. Epigenetic Regulations of GABAergic Neurotransmission: Relevance for Neurological Disorders and Epigenetic Therapy

    Shikshya Shrestha, Steven M. Offer · 2016 · Medical Epigenetics · 8,960 citations

    The GABAergic neurotransmission is a highly conserved system that has been attributed to various regulatory events. There has been a notable number of studies on the importance of GABAergic neurotransmission, both excitatory and inhibitory, in neurogenesis and central nervous system development including its control of neuronal cell proliferation and migration, synaptogenesis, dendrite formation and branching, and new neuronal cell integration in the adult brain. There has been remarkable progress in understanding the epigenetic regulations of GABAergic genes and their aberrant expressions in various neurological disorders such as autism spectrum disorder, Rett's syndrome, schizophrenia and

  4. Genetic effects on gene expression across human tissues

    François Aguet, Ayellet V. Segrè, Beryl B. Cummings, et al. · 2017 · Nature · 4,717 citations

    Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue Expression (GTEx) project aims to characterize variation in gene expression levels across individuals and diverse tissues of the human body, many of which are not easily accessible. Here we describe genetic effects on gene expression levels across 44 human tissues. We find that local genetic variation affects gene expression levels for the majority of genes, and we further identify inter-chromosomal genetic effects for 93 genes and 112 loci. On the basis of the identified g

  5. Epigenetics in cancer.

    Shikhar Sharma, T. Kelly, Peter A. Jones · 2010 · Carcinogenesis · 4,708 citations

    Epigenetic mechanisms are essential for normal development and maintenance of tissue-specific gene expression patterns in mammals. Disruption of epigenetic processes can lead to altered gene function and malignant cellular transformation. Global changes in the epigenetic landscape are a hallmark of cancer. The initiation and progression of cancer, traditionally seen as a genetic disease, is now realized to involve epigenetic abnormalities along with genetic alterations. Recent advancements in the rapidly evolving field of cancer epigenetics have shown extensive reprogramming of every component of the epigenetic machinery in cancer including DNA methylation, histone modifications, nucleosome

  7. Epigenetic differences arise during the lifetime of monozygotic twins

    Mario F. Fraga, Esteban Ballestar, Maria F. Paz, et al. · 2005 · Proceedings of the National Academy of Sciences · 3,624 citations

    Monozygous twins share a common genotype. However, most monozygotic twin pairs are not identical; several types of phenotypic discordance may be observed, such as differences in susceptibilities to disease and a wide range of anthropomorphic features. There are several possible explanations for these observations, but one is the existence of epigenetic differences. To address this issue, we examined the global and locus-specific differences in DNA methylation and histone acetylation of a large cohort of monozygotic twins. We found that, although twins are epigenetically indistinguishable during the early years of life, older monozygous twins exhibited remarkable differences in their overall

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

    A. Feinberg · 2018 · The New England journal of medicine · 496 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.

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

    C. Tiffon · 2018 · International Journal of Molecular Sciences · 372 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

  16. The Role of Epigenetics in Autoimmune/Inflammatory Disease

    Anna E. A. Surace, C. Hedrich · 2019 · Frontiers in Immunology · 244 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

  17. Epigenetic Regulation of Gene Expression in the Inflammatory Response and Relevance to Common Diseases

    Anthony G. Wilson · 2008 · Journal of Periodontology · 229 citations

    Epigenetics can be defined as all the meiotically and mitotically inherited changes in gene expression that are not encoded in the DNA sequence itself. Epigenetic modifications of chromatin and DNA have been recognized as important permissive and suppressive factors in controlling the expressed genome via gene transcription. Two major epigenetic mechanisms are the posttranslational modification of histone proteins in chromatin and the methylation of DNA itself, which are regulated by distinct, but coupled, pathways. It is clear that the epigenetic state is a central regulator of cellular development and activation. Emerging evidence suggests a key role for epigenetics in human pathologies, i

  19. Epigenetics in liver disease: from biology to therapeutics

    T. Hardy, D. Mann · 2016 · Gut · 156 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

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

    P. Tsai, C. A. 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

  21. How epigenetics impacts on human diseases.

    A. Farsetti, B. Illi, C. Gaetano · 2023 · European journal of internal medicine · 136 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

  24. 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

Write your paper with these sources

Folio is the integrity-first research workspace: search 200M+ papers, save sources, and write with citations that format themselves. Free for students and researchers.

Start writing free →