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Unlabelled: is one of the three most frequently mutated genes in age-related clonal hematopoiesis (CH), alongside and . CH can progress to myeloid malignancies including chronic monomyelocytic leukemia (CMML), and is also strongly associated with inflammatory cardiovascular disease and all-cause mortality in humans. DNMT3A and TET2 regulate DNA methylation and demethylation pathways respectively, and loss-of-function mutations in these genes reduce DNA methylation in heterochromatin, allowing de-repression of silenced elements in heterochromatin.
View Article and Find Full Text PDFMitochondrial diseases, caused by mutations in either nuclear or mitochondrial DNA (mtDNA), currently have limited treatment options. For mtDNA mutations, reducing mutant-to-wild-type mtDNA ratio (heteroplasmy shift) is a promising therapeutic option, though current approaches face significant challenges. Previous research has shown that severe mitochondrial dysfunction triggers an adaptive nuclear epigenetic response, characterized by changes in DNA methylation, which does not occur or is less important when mitochondrial impairment is subtle.
View Article and Find Full Text PDFGenome-wide association studies (GWAS) of melanoma risk have identified 68 independent signals at 54 loci. For most loci, specific functional variants and their respective target genes remain to be established. Capture-HiC is an assay that links fine-mapped risk variants to candidate target genes by comprehensively mapping cell-type specific chromatin interactions.
View Article and Find Full Text PDFImmune Dysregulation and Cellular Composition in Lichen Sclerosus Revealed by Integrative Epigenetic Analysis with Cell Type Deconvolution.
J Inflamm Res
January 2025
Key Laboratory of Biomechanics and Mechanobiology, Ministry of Education; Key Laboratory of Innovation and Transformation of Advanced Medical Devices, Ministry of Industry and Information Technology; National Medical Innovation Platform for Industry-Education Integration in Advanced Medical Devices (Interdiscipline of Medicine and Engineering); School of Engineering Medicine, Beihang University, Beijing, 100191, People's Republic of China.
Background: Lichen sclerosus (LS) is a chronic inflammatory disease affecting skin and mucosal tissues, particularly external genitalia, with a risk of cancer. Its etiology is unknown, possibly involving immune dysregulation and inflammation.
Methods: Study used DNA methylation (DNAme) and single-cell RNA sequencing (scRNA-seq) to compare LS with normal skin.
Here, we have discussed the molecular mechanisms of p53-responsive microRNAs dysregulation in response to genotoxic stress in diffuse large B-cell lymphoma (DLBCL) patients. The role of micro ribonucleic acids (microRNAs) in p53-signaling cellular stress has been studied. MicroRNAs are the small non-coding RNAs, which regulate genes expression at post-transcriptional level.
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