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Somatic mutations and DNA methylation identify a subgroup of poor prognosis within lower-risk myelodysplastic syndromes.
Hemasphere
January 2025
Université Paris Cité, Institut Cochin, INSERM U1016, CNRS UMR8104 Assistance Publique-Hôpitaux de Paris.Centre, Laboratory of Hematology, Hôpital Cochin Paris France.
Lower risk (LR) myelodysplastic syndromes (MDS) are heterogeneous hematopoietic stem and progenitor disorders caused by the accumulation of somatic mutations in various genes including epigenetic regulators that may produce convergent DNA methylation patterns driving specific gene expression profiles. The integration of genomic, epigenomic, and transcriptomic profiling has the potential to spotlight distinct LR-MDS categories on the basis of pathophysiological mechanisms. We performed a comprehensive study of somatic mutations and DNA methylation in a large and clinically well-annotated cohort of treatment-naive patients with LR-MDS at diagnosis from the EUMDS registry (ClinicalTrials.
View Article and Find Full Text PDFMethylation of and Are Risk Factors and Potential Biomarkers for Cervical Lesions.
World J Oncol
February 2025
Department of Pathology, The Seventh Medical Center, Chinese PLA General Hospital, Beijing 100700, China.
Background: The correlation between methylation of paired box gene 1 () and sex determining region Y-box 1 () with human papillomavirus (HPV) infection and the progression of cervical lesions is not well understood. This study aims to explore the potential value of and as diagnostic biomarkers for cervical diseases.
Methods: A total of 139 cervical biopsy tissue samples were obtained from the Department of Pathology, the Seventh Medical Center, Chinese PLA General Hospital from 2021 to 2023.
Comprehensive assessment of the significance of cellular senescence-associated genes in neuroblastoma.
Genes Genomics
January 2025
Department of Pediatric Surgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450000, Henan, China.
Background: The clinical course of high-risk neuroblastoma patients remains suboptimal, and the dynamic and reversible nature of cellular senescence provides an opportunity to develop new therapies.
Objective: This study aims to identify unique markers of cellular senescence in neuroblastoma and to explore their clinical significance.
Methods: The impact of multiple genetic regulatory mechanisms on cellular senescence-associated genes (CSAGs) was first assessed.
Advanced Distance-Resolved Evaluation of the Perienhancing Tumor Areas with FLAIR Hyperintensity Indicates Different ADC Profiles by Promoter Methylation Status in Glioblastoma.
AJNR Am J Neuroradiol
January 2025
From the Department of Neuroradiology (G.B., N.H., F.D.v.D., A.B., Z.K.), University Hospital Zürich, Zürich, Switzerland.
Background And Purpose: Whether differences in the O-methylguanine-DNA methyltransferase () promoter methylation status of glioblastoma (GBM) are reflected in MRI markers remains largely unknown. In this work, we analyze the ADC in the perienhancing infiltration zone of GBM according to the corresponding status by using a novel distance-resolved 3D evaluation.
Materials And Methods: One hundred one patients with wild-type GBM were retrospectively analyzed.
Stratification system with dual human endogenous retroviruses for predicting immunotherapy efficacy in metastatic clear-cell renal cell carcinoma.
J Immunother Cancer
January 2025
Department of Cancer and Functional Genomics, Institute of Genetics and Molecular and Cellular Biology (IGBMC), CNRS/INSERM/UNISTRA, Illkirch-Graffenstaden, France
Background: Endogenous retrovirus (ERV) elements are genomic footprints of ancestral retroviral infections within the human genome. While the dysregulation of ERV transcription has been linked to immune cell infiltration in various cancers, its relationship with immune checkpoint inhibitor (ICI) response in solid tumors, particularly metastatic clear-cell renal cell carcinoma (ccRCC), remains inadequately explored.
Methods: This study analyzed patients with metastatic ccRCC from two prospective clinical trials, encompassing 181 patients receiving nivolumab in the CheckMate trials (-009 to -010 and -025) and 48 patients treated with the ipilimumab-nivolumab combination in the BIONIKK trial.
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