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721
Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion
Published 2014-01-01“…The patient was started on valproic acid (VPA, 600 mg/die per os) considering the capacity of this drug of increasing survival motor neuron through an epigenetic mechanism. Patient clinical course and molecular effects of VPA on skin fibroblasts obtained from the proband are described. …”
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722
The BET inhibitor JQ1 targets fat metabolism and counteracts obesity
Published 2025-02-01“…Conclusion: In conclusion, the current data highlight a potential benefit of JQ1 administration to counteract obesity, suggesting epigenetic modulation as a prospective target in the treatment of obesity and sarcopenic obesity, despite the underlying multiorgan molecular mechanism is still not completely elucidated.…”
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723
Overcoming the Silencing of Doxycycline-Inducible Promoters in hiPSC-derived Cardiomyocytes [version 1; peer review: 1 approved, 2 approved with reservations]
Published 2024-12-01“…Conclusions These findings underscore the need for integrating multiple strategies, including careful GSH selection, improved cassette design, epigenetic modulation, and clone screening, to develop robust dox-inducible systems that retain functionality during hiPSC differentiation.…”
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724
miR-21 and cathepsin B in familial Mediterranean fever: novel findings regarding their impact on disease severity
Published 2025-01-01“…Objective The limited predictive effect of genotype on familial Mediterranean fever (FMF) phenotype suggests that epigenetic factors and alternative mechanisms that may cause IL-1β release could contribute to phenotypic heterogeneity. …”
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725
Cyclin-dependent kinase 4 and 6 inhibitors (CDK4/6i): Mechanisms of resistance and where to find them
Published 2025-02-01“…Additionally, the importance of dissecting CDK4/6i resistance from endocrine resistance for personalized treatment is increasingly recognized.Liquid biopsy has emerged as a minimally invasive tool for identifying circulating biomarkers of resistance through the integration of multiparametric and dynamic assessments that encompass ctDNA, CTCs, exosomes, and epigenetic ctDNA alterations, representing a promising perspective for the clinical characterization of treatment resistance and guiding post-progression strategies to improve patient outcomes.Aim of this review is summarize potential mechanisms of CDK4/6i resistance, along with the advantages of using liquid biopsy to identify resistance biomarkers in HR+/HER2- MBC patients treated with CDK 4/6 inhibitors.…”
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726
Role of Sex Hormones in the Development and Progression of Hepatitis B Virus-Associated Hepatocellular Carcinoma
Published 2015-01-01“…Additionally, sex hormones can also affect HBV-related hepatocarcinogenesis by inducing epigenetic changes such as the regulation of mRNA levels by microRNAs (miRNAs), DNA methylation, and histone modification in liver tissue. …”
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727
Stem Cell Therapy for the Treatment of Amyotrophic Lateral Sclerosis: Comparison of the Efficacy of Mesenchymal Stem Cells, Neural Stem Cells, and Induced Pluripotent Stem Cells
Published 2024-12-01“…NSCs, isolated from the fetal spinal cord or brain, demonstrate promise in animal models but face functional integration and ethical challenges. iPSCs, created by reprogramming patient-specific somatic cells, offer a novel approach by potentially replacing or supporting neurons. iPSC therapy addresses ethical issues related to embryonic stem cells but encounters challenges regarding genotoxicity and epigenetic irregularities, somatic cell sources, privacy concerns, the need for extensive clinical trials, and high reprogramming costs. …”
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728
Assessing molecular changes underlying isopropylated phenyl phosphate (IPP)-induced larval sensorimotor response deficits in zebrafish
Published 2025-01-01“…Collectively, our data shows that IPP exposures can disrupt a battery of biological pathways spanning neurometabolomic, genetic, epigenetic as well as organ-level targets. Notably, these impacts occur at concentrations within environmental relevance where overt toxic morphological phenotypes are not recorded. …”
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729
Promoter Methylation Precedes Chromosomal Alterations in Colorectal Cancer Development
Published 2006-01-01“…Background: Colorectal cancers are characterized by genetic and epigenetic alterations. This study aimed to explore the timing of promoter methylation and relationship with mutations and chromosomal alterations in colorectal carcinogenesis. …”
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730
Preliminary Evidence of a Horizontal Transfer of Paramutation Phenomenon at the <i>pl1</i> Gene in Maize (<i>Zea mays</i> L.)
Published 2024-12-01“…Paramutation, a specific epigenetic phenomenon first identified in <i>Zea mays</i> by Alexander Brink in the 1950s, has since been observed in different plant and animal species. …”
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731
RAS/RAF/MEK/ERK and PI3K/PTEN/AKT Signaling in Malignant Melanoma Progression and Therapy
Published 2012-01-01“…Melanomagenesis is initially triggered by environmental agents including ultraviolet (UV), which induces genetic/epigenetic alterations in the chromosomes of melanocytes. …”
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732
Deciphering the Genetic Alterations in PIK3CA Gene Interacting Network and Their Putative Association with Breast Cancer: A Computational Approach
Published 2025-01-01“…Also, the effect of tumor suppressors and epigenetic factors targeting PIK3CA has to be assessed to gain more insight into the increased expression of PIK3CA in breast cancer patients.…”
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733
The role of polymorphic variants of arginase genes (<i>ARG1, ARG2</i>) involved in beta-2-agonist metabolism in the development and course of asthma
Published 2020-07-01“…The sensitivity to asthma therapy largely depends on the interaction of genetic and epigenetic factors, which account for about 50–60 % of variability of therapeutic response. …”
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734
LncRNA PVT1 links estrogen receptor alpha and the polycomb repressive complex 2 in suppression of pro-apoptotic genes in hormone-responsive breast cancer
Published 2025-02-01“…A set of lncRNAs was selected among ERα-associated RNAs in BC cell nuclei due to their roles in processes such as transcriptional regulation and epigenetic chromatin modifications. Native immunoprecipitation of nuclear ERα-interacting RNAs coupled to NGS (RIP-Seq) was performed in MCF-7 cells, leading to the identification of essential lncRNAs interacting with the receptor in multi-molecular regulatory complexes. …”
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735
Differential Regulation of Methylation-Regulating Enzymes by Senescent Stromal Cells Drives Colorectal Cancer Cell Response to DNA-Demethylating Epi-Drugs
Published 2018-01-01“…The data show an increased activity of DAC in high stromal cell cocultures and suggest the potential of the tumor-stroma ratio in predicting the outcome of DNA-demethylating epigenetic cancer therapy.…”
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736
Integrated analysis of transcriptome, sRNAome, and degradome involved in the drought-response of maize Zhengdan958
Published 2025-01-01“…Drought is a major abiotic stress in restricting the growth, development, and yield of maize. As a significant epigenetic regulator, small RNA also functions in connecting the transcriptional and post-transcriptional regulatory network. …”
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737
Metabolic phenotype of adult mice offspring obtained from different variants of embryo transfer
Published 2020-12-01“…Since all this occurs at the stage of the highest susceptibility of embryos to epigenetic reprogramming, the full cycle of ART and its individual components can lead to stable phenotypic changes in the offspring. …”
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738
Exercise-induced methylation of the Serhl2 promoter and implication for lipid metabolism in rat skeletal muscle
Published 2025-02-01“…Objectives: Environmental factors such as physical activity induce epigenetic modifications, with exercise-responsive DNA methylation changes occurring in skeletal muscle. …”
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739
Post-translational histone modifications associated with the development of metabolic dysfunction-associated fatty liver disease. Part 2. Histone methylation
Published 2024-12-01“…Based on the analysis of literary sources of databases Pubmed, MEDLINE, The Cochrane Library, Embase, the authors highlight the essential role of epigenetic modulations in the pathogenesis of metabolic dysfunction-associated fatty liver disease. …”
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740
H3K4 methylation regulates development, DNA repair, and virulence in Mucorales
Published 2024-03-01“…However, the role of epigenetic changes at the histone level never has been studied in Mucorales. …”
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