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-Rearranged Enteric Tumors: Updates on Clinicopathologic and Molecular Genetics Features.
Cells
January 2025
Department of Pathology and Laboratory Medicine, Emory University School of Medicine, Atlanta, GA 30322, USA.
Recent advances in molecular genetics, particularly in identifying and characterizing genetic abnormalities within mesenchymal neoplasms, have led to a more comprehensive and evolving classification system. Modern technological developments in cytogenetics and next-generation sequencing have enabled the analysis of small clinical samples, expanded our understanding of tumor biology, and improved the diagnostic, prognostic, and predictive precision by identifying targeted genetic alterations, confirming the presence of fusion transcripts, and/or revealing the overexpression of specific genes and their targets. In this review, we focus specifically on the -rearranged enteric tumor, a recent clinicopathological entity that has emerged within the expanding classification of mesenchymal tumors.
View Article and Find Full Text PDFRepeatome landscapes and cytogenetics of hortensias provide a framework to trace Hydrangea evolution and domestication.
Ann Bot
January 2025
Graduate School of Human Development and Environment, Kobe University, Nada-ku, Kobe, 657-8501, Japan.
Background And Aims: Ornamental hortensias are bred from a reservoir of over 200 species in the genus Hydrangea s.l. (Hydrangeaceae), and are valued in gardens, households and landscapes across the globe.
View Article and Find Full Text PDFClinicopathologic and Molecular Characterization of NUP98-Rearranged Acute Leukemias.
Int J Lab Hematol
January 2025
Department of Pathology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Introduction: NUP98 rearrangements are rare in acute leukemias and portend a poor prognosis.
Methods: This study explored clinicopathologic and molecular features of five patients with NUP98 rearranged (NUP98-r) acute leukemias, including three females and two males with a median age of 34 years.
Results: NUP98 fusion partners were associated with distinctive leukemia characteristics and biology.
Characterization of NAT, GST, and CYP2E1 Genetic Variation in Sub-Saharan African Populations: Implications for Treatment of Tuberculosis and Other Diseases.
Clin Pharmacol Ther
January 2025
Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Tuberculosis (TB) is a major health burden in Africa. Although TB is treatable, anti-TB drugs are associated with adverse drug reactions (ADRs), which are partly attributed to pharmacogenetic variation. The distribution of star alleles (haplotypes) influencing anti-TB drug metabolism is unknown in many African populations.
View Article and Find Full Text PDFSingle-molecule toxicogenomics: Optical genome mapping of DNA-damage in nanochannel arrays.
DNA Repair (Amst)
January 2025
School of Chemistry, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University, Tel Aviv 6997801, Israel; Edmond J. Safra Center for Bioinformatics, Tel Aviv University, Tel Aviv 6997801, Israel; Department of Biomedical Engineering, Fleischman Faculty of Engineering, Tel Aviv University, Tel Aviv 6997801, Israel. Electronic address:
Quantitative genomic mapping of DNA damage may provide insights into the underlying mechanisms of damage and repair. Sequencing based approaches are bound to the limitations of PCR amplification bias and read length which hamper both the accurate quantitation of damage events and the ability to map them to structurally complex genomic regions. Optical Genome mapping in arrays of parallel nanochannels allows physical extension and genetic profiling of millions of long genomic DNA fragments, and has matured to clinical utility for characterization of complex structural aberrations in cancer genomes.
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