Laboratory of Molecular and Cellular Neurobiology, Department of Cellular, Computational and Integrative Biology - CIBIO, University of Trento, Trento, Italy.
Bioinformatics Facility, Department of Cellular, Computational and Integrative Biology - CIBIO, University of Trento, Trento, Italy.
J Hematol Oncol. 2020 Oct 12;13(1):135. doi: 10.1186/s13045-020-00974-3.
Pediatric myelodysplastic syndrome (PMDS) is a very rare and still poorly characterized disorder. In this work, we identified novel potential targets of PMDS by determining genes with aberrant expression, which can be correlated with PMDS pathogenesis. We identified 291 differentially expressed genes (DEGs) in PMDS patients, comprising genes involved in the regulation of apoptosis and the cell cycle, ribosome biogenesis, inflammation and adaptive immunity. Ten selected DEGs were then validated, confirming the sequencing data. These DEGs will potentially represent new molecular biomarkers and therapeutic targets for PMDS.
儿童骨髓增生异常综合征（PMDS）是一种非常罕见且特征仍不清楚的疾病。在这项工作中，我们通过确定表达异常的基因来鉴定 PMDS 的新潜在靶点，这些基因可能与 PMDS 的发病机制相关。我们在 PMDS 患者中鉴定了 291 个差异表达基因（DEGs），这些基因涉及细胞凋亡和细胞周期、核糖体生物发生、炎症和适应性免疫的调节。然后验证了 10 个选定的 DEGs，确认了测序数据。这些 DEGs 可能代表 PMDS 的新分子生物标志物和治疗靶点。
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