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Protein arginine methyltransferase 7 linked to schizophrenia through regulation of neural progenitor cell proliferation and differentiation
Published 2025-02-01“…Mechanistically, PRMT7 regulates the expression of genes related to the cell cycle and neuronal functions, such as CDKN2A and SYP, via symmetrical di-methylation at arginine 3 of histone 4 (H4R3me2s) modification in their promoters. …”
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Human placental extract improves liver cirrhosis in mice with regulation of macrophages and senescent cells
Published 2025-03-01“…Furthermore, there was a decrease in the number of senescent cells in the liver and the mRNA levels of secrete senescence-associated secretory phenotype factors and Cdkn2a (p16). In vitro, HPE induced macrophage polarization to the anti-inflammatory M2 phenotype. …”
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High p16INK4A expression in glioblastoma is associated with senescence phenotype and better prognosis
Published 2025-02-01“…Previous studies have identified a few prognostic markers for GBM, including the methylation status of O6-methylguanine-DNA methyltransferase (MGMT) promoter, TERT promoter mutation, EGFR amplification, and CDKN2A/2B deletion. However, the classification of GBM remains incomplete, necessitating a comprehensive analysis. …”
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Glioma Image-Level and Slide-Level Gene Predictor (GLISP) for Molecular Diagnosis and Predicting Genetic Events of Adult Diffuse Glioma
Published 2024-12-01“…Using the concept of multiple-instance learning, we developed an AI framework named GLioma Image-level and Slide-level gene Predictor (GLISP) to predict nine genetic abnormalities in hematoxylin and eosin sections: <i>IDH1/2</i>, <i>ATRX</i>, <i>TP53</i> mutations, <i>TERT</i> promoter mutations, <i>CDKN2A/B</i> homozygous deletion (CHD), <i>EGFR</i> amplification (<i>EGFR</i>amp), 7 gain/10 loss (7+/10−), 1p/19q co-deletion, and <i>MGMT</i> promoter methylation. …”
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A Case Report and Genetic Characterization of a Massive Acinic Cell Carcinoma of the Parotid with Delayed Distant Metastases
Published 2013-01-01“…The primary tumor and blood underwent exome sequencing which revealed deletions in CDKN2A as well as PPP1R13B, which induces p53. A damaging nonsynonymous mutation was noted in EP300, a histone acetylase which plays a role in cellular proliferation. …”
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An Optimized NGS Workflow Defines Genetically Based Prognostic Categories for Patients with Uveal Melanoma
Published 2025-01-01“…Methods: Following the findings published by “The Cancer Genome Atlas–UM” (TCGA-UM) study, we developed an NGS-based gene panel (called the UMpanel) that classifies mutation sets in four categories: initiating alterations (<i>CYSLTR2</i>, <i>GNA11</i>, <i>GNAQ</i> and <i>PLCB4</i>), prognostic alterations (<i>BAP1</i>, <i>EIF1AX</i>, <i>SF3B1</i> and <i>SRSF2</i>), emergent biomarkers (<i>CDKN2A</i>, <i>CENPE</i>, <i>FOXO1</i>, <i>HIF1A</i>, <i>RPL5</i> and <i>TP53</i>) and chromosomal abnormalities (imbalances in chromosomes 1, 3 and 8). …”
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