Review of the role and potential clinical value of m6A methylation modifications in the biological process of osteosarcoma
Frontiers in Genetics
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2w ago
Osteosarcoma (OS), an aggressive bone tumor, is a substantial threat to the quality of life and survival of affected individuals. Despite recent improvements in OS therapies, the considerable variability and chemotherapy resistance of this cancer necessitate continuous research to discover new treatment targets and biomarkers. Recent epigenetic advances highlight the crucial role of N6-methyladenosine (m6A) methylation in cancer. In OS, m6A methylation has been demonstrated to be a pivotal component in the pathogenesis. This review introduces new findings regarding the association between m6A ..read more
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DLBWE-Cys: a deep-learning-based tool for identifying cysteine S-carboxyethylation sites using binary-weight encoding
Frontiers in Genetics
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3M ago
Cysteine S-carboxyethylation, a novel post-translational modification (PTM), plays a critical role in the pathogenesis of autoimmune diseases, particularly ankylosing spondylitis. Accurate identification of S-carboxyethylation modification sites is essential for elucidating their functional mechanisms. Unfortunately, there are currently no computational tools that can accurately predict these sites, posing a significant challenge to this area of research. In this study, we developed a new deep learning model, DLBWE-Cys, which integrates CNN, BiLSTM, Bahdanau attention mechanisms, and a fully c ..read more
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Co-methylation networks associated with cognition and structural brain development during adolescence
Frontiers in Genetics
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3M ago
IntroductionTypical adolescent neurodevelopment is marked by decreases in grey matter (GM) volume, increases in myelination, measured by fractional anisotropy (FA), and improvement in cognitive performance.MethodsTo understand how epigenetic changes, methylation (DNAm) in particular, may be involved during this phase of development, we studied cognitive assessments, DNAm from saliva, and neuroimaging data from a longitudinal cohort of normally developing adolescents, aged nine to fourteen. We extracted networks of methylation with patterns of correlated change using a weighted gene correlation ..read more
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Exome sequencing in 90 children with developmental delay: a single-center experience
Frontiers in Genetics
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4M ago
IntroductionDevelopmental delay (DD) in children is often caused by genetic abnormalities, which are challenging to diagnose due to the vast genetic variability.MethodsThis study presents a detailed analysis of whole-exome sequencing (WES) on 90 children with DD at a single clinical center.ResultsWe identified pathogenic or likely pathogenic variants in 27.8% of cases, with 7.8% revealing variants of uncertain significance (VUS). Among the positive findings, 21 (84.0%) corresponded to the main clinical manifestations in patients, and 4 (16.0%) secondary findings provided new insights into the ..read more
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DSB profiles in human spermatozoa highlight the role of TMEJ in the male germline
Frontiers in Genetics
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4M ago
The male mammalian germline is characterized by substantial chromatin remodeling associated with the transition from histones to protamines during spermatogenesis, followed by the reversal to nucleohistones in the male pronucleus preceding the zygotic genome activation. Both transitions are associated with the extensive formation of DNA double-strand breaks (DSBs), requiring an estimated 5 to 10 million transient DSBs per spermatozoa. Additionally, the high transcription rate in early stages of spermatogenesis leads to transcription-coupled damage preceding meiotic homologous recombination, po ..read more
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Brief research report: WGCNA-driven identification of histone modification genes as potential biomarkers in AQP4-Associated optic neuritis
Frontiers in Genetics
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4M ago
IntroductionNeuromyelitis Optica spectrum disorder (NMOSD) is an autoimmune disease characterized by anti-aquaporin-4 (AQP4) auto-antibodies. The discovery of antibodies AQP4 and myelin oligodendrocyte glycoprotein (MOG) has expanded our understanding of the pathogenesis of neuromyelitis optica. However, the molecular mechanisms underlying the disease, particularly AQP4-associated optic neuritis (AQP4-ON), remain to be fully elucidated.MethodsIn this study, we utilized Weighted Gene Co-expression Network Analysis (WGCNA) to investigate the transcriptomic profiles of peripheral blood samples fr ..read more
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Editorial: Epigenetic mechanisms and their involvement in rare diseases, volume II
Frontiers in Genetics
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6M ago
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Trends and frontiers of RNA methylation in cancer over the past 10 years: a bibliometric and visual analysis
Frontiers in Genetics
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6M ago
PurposeTo highlight the trends and frontiers of RNA methylation in cancer over the past 10 years.MethodsResearch publications on RNA methylation in cancer were retrieved from the Web of Science Core Collection database. VOSviewer, CiteSpace, and Bibliometrix were used to conduct bibliometric and visualization analysis of countries, institutions, authors, journals, and keywords relevant to this field.ResultsFrom 2014 to 2023, research on RNA methylation in cancer has developed rapidly, with an overall increase in the number of publications and citations. China (4320 papers, 115056citations ..read more
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Identification and validation of an m7G-related lncRNAs signature for predicting prognosis, immune response and therapy landscapes in ovarian cancer
Frontiers in Genetics
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6M ago
BackgroundOvarian cancer is the most mortality malignancy in gynecology. N7-methylguanosine (m7G) is one of the most prevalent RNA modifications in the development and progression of cancer. The aim of this study is to investigate the effect of m7G-related lncRNA on ovarian cancer in terms of instruction prognosis and immunotherapy.MethodsAfter integrating and processing the RNA expression profiles with the clinical sample information in the TCGA database, we initially screened to the m7G-related lncRNAs by Spearman correlation analysis, and subsequently obtained a prognostic model constructed ..read more
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Personality and COMT gene: molecular-genetic and epigenetic associations with NEO-PI-R personality domains and facets in monozygotic twins
Frontiers in Genetics
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6M ago
BackgroundThis study investigates the relationship between MB-COMT DNA methylation (DNAm) and the personality traits outlined in the NEO-PI-R model through an epigenetic study of monozygotic twins. DNAm, a critical epigenetic mechanism, regulates gene expression and has been linked to various biological processes and disorders. By leveraging the genetic similarities of monozygotic twins, this research explores how epigenetic variations influenced by environmental factors correlate with personality differences.MethodsThe study utilized the Five-Factor Model (FFM) to categorize personality trait ..read more
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