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Cell Genom
March 2025
Institute for Systems Genomics, University of Connecticut, Storrs, CT, USA; Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA; Department of Genetics and Genome Sciences, UConn Health, Farmington, CT, USA. Electronic address:
Great apes have maintained a stable karyotype with few large-scale rearrangements; in contrast, gibbons have undergone a high rate of chromosomal rearrangements coincident with rapid centromere turnover. Here, we characterize fully assembled centromeres in the eastern hoolock gibbon, Hoolock leuconedys (HLE), finding a diverse group of transposable elements (TEs) that differ from the canonical alpha-satellites found across centromeres of other apes. We find that HLE centromeres contain a CpG methylation centromere dip region, providing evidence that this epigenetic feature is conserved in the absence of satellite arrays.
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Background And Objective: With the increasing number of diagnostic biomarkers associated with tumor diagnosis, targeted therapy, and immunotherapy, access to clinical pathological specimens of an appropriate size for analysis is becoming a problem. Conventional high-throughput sequencing assays for non-small cell lung cancer (NSCLC) often necessitate the extraction of separate DNA and RNA samples to achieve precise detection of various mutation types. This study aimed to employ RNA-next-generation sequencing (NGS) technology to simultaneously detect different types of mutations in NSCLC samples, including single nucleotide variations, insertions and deletions, fusions/rearrangements, and exon skipping, thereby addressing the issue of limited sample availability.
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Background: Discrimination between clonal and reactive cell proliferation is critical for the correct management of T-cell lymphocytosis. Multiparametric flow cytometry (MFC) represents a valuable tool, particularly because it allows the evaluation of the T-cell receptor (TCR) Vβ repertoire to pinpoint eventual clonality in T-cell lymphocytosis. A restricted expansion of a single out of the 24 evaluable families or a "clonogram-off" pattern is highly suggestive of the presence of a clonal T-cell population.
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Leukemia is characterized by multiple rearrangements of signal transduction genes and overexpression of nonmutated genes, such as transcription factors (TFs) genes. Super-enhancers (SEs) are prevalent in human cancers and are associated with the accumulation of numerous core TFs. SEs drive the expression of core TF genes by delivering robust transcriptional activation signals.
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BMC Neurol
March 2025
Department of Neurosurgery, West China Hospital, Sichuan University, No. 37 Guo Xue Xiang, Chengdu, 610041, China.
Background: The rarity of adult primary cerebral rhabdomyosarcoma (PCRMS) cases has necessitated the adoption of pediatric rhabdomyosarcoma (RMS) therapeutic protocols, highlighting a critical need for expanded treatment experiences to enhance prognoses.
Case Presentation: A 21-year-old female presented to our facility with a 20-day history of persistent headache, nausea, and vomiting, along with mild upward gaze palsy for the past 5 to 7 days. A brain magnetic resonance imaging (MRI) revealed a mass in the pineal region, extending into the third ventricle, measuring approximately 2.
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