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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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  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

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  3. UALCAN: A Portal for Facilitating Tumor Subgroup Gene Expression and Survival Analyses

    Darshan S. Chandrashekar, Bhuwan Bashel, Sai Akshaya Hodigere Balasubramanya, et al. · 2017 · Neoplasia · 6,589 citations

    Genomics data from The Cancer Genome Atlas (TCGA) project has led to the comprehensive molecular characterization of multiple cancer types. The large sample numbers in TCGA offer an excellent opportunity to address questions associated with tumo heterogeneity. Exploration of the data by cancer researchers and clinicians is imperative to unearth novel therapeutic/diagnostic biomarkers. Various computational tools have been developed to aid researchers in carrying out specific TCGA data analyses; however there is need for resources to facilitate the study of gene expression variations and survival associations across tumors. Here, we report UALCAN, an easy to use, interactive web-portal to per

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  5. Genetic effects on gene expression across human tissues

    François Aguet, Ayellet V. Segrè, Beryl B. Cummings, et al. · 2017 · Nature · 4,736 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

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  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 · 3,631 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

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  9. Epigenetics in cancer

    Shilpa Sharma, T. K. Kelly, P A Jones · 2009 · Carcinogenesis · 2,590 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

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  11. 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

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  17. From Environment to Gene Expression: Epigenetics and the Development of Mental Health Disorders

    Jennings Hernandez · 2023 · International Neuropsychiatric Disease Journal · 2 citations

    Psychiatric disorders have multifaceted origins, involving a combination of genetic and environmental factors that contribute significantly to their development. In recent times, researchers have emphasized the role of epigenetic mechanisms as the underlying molecular foundation for how environmental factors influence biological processes. Consequently, the field of epigenetics has gained growing prominence within the realm of psychiatry as a means to understand these intricate connections. This qualitative research paper explores the role of epigenetics in mental health disorders, focusing on the impact of environmental factors on gene expression. By examining the complex interplay between

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  19. Epigenetics: The Impact of Trauma on Gene Expression and Transgenerational Transmission

    Sama A. Akbarli, Chilanay M. Alakbarova · 2026 · Journal of Molecular Biosciences and Engineering

    This study examines the relationship between childhood trauma and epigenetic changes in genes that regulate the stress response. Traumas such as violence or lack of control experienced at an early age can disrupt the long-term regulatory mechanisms of the hypothalamic-pituitary-adrenal (HPA) axis, leading to impaired stress responses. Epigenetic mechanisms such as DNA methylation, histone modifications, and non-coding RNAs play an important role in the stress response by regulating gene expression without altering the DNA sequence. Genes such as FKBP5, MAOA, and NR3C1, which are important in stress regulation, are sensitive to childhood trauma; changes in their methylation and transcription

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  20. Epigenetics and Dietary Phytochemicals: Modulating Gene Expression for Disease Prevention

    T. Divya, A. Mangala Gowri · 2026 · Journal of Advances in Biology & Biotechnology

    Epigenetics refers to changes in chromatin organisation and gene expression that occur without alteration of the DNA sequence. This review discusses how dietary phytochemicals and nutritional states may influence epigenetic mechanisms relevant to disease prevention. The manuscript focuses on DNA methylation, histone acetylation, histone methylation, histone biotinylation and microRNA-mediated regulation, and describes how these processes can be affected by nutrients, methyl donors and bioactive plant compounds. Evidence discussed in the review indicates that nutrition during maternal, paternal, periconceptional and postnatal periods can influence methylation patterns, gene expression and met

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  22. The Influence of Epigenetics on Gene Expression: Mechanisms, Environmental Interactions and Clinical Applications in Disease Prevention and Treatment

    Yun Ao · 2025 · Theoretical and Natural Science

    Epigenetics, as defined, is a crucial field of heritable modifications in gene activity or function independent of genetic DNA code variability. Determining this knowledge is very important. The review will elaborate on the principal epigenetic mechanisms comprising DNA methylation, histone modifications, and non-coding RNAs. Each bears responsibilities for being a major contributor to specifying gene expression as well as guardians for maintaining genomic stability. It also covers the impact of environmental factors, including nutrition, psychosocial stress, and toxic exposure, on changing epigenetic states often associated with shifts in disease susceptibility. By focusing on paradigmatic

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