Multiple mutations are present in most human tumours. These genetic modifications appear to be necessary to produce and select pretumoral, tumoral and metastatic clones. These multiple mutations can be sequentially produced by genotoxic agents leading to cancers with a long latency period or due to mutations in genes implicated in the control of the genetic stability. Several human diseases are linked with a very high cancer incidence because they are hereditarily carrying a mutation on some DNA repair genes, mismatch repair genes or tumour suppressor genes. These abnormal functions will produced a mutator phenotype leading to a cascade of genetic modifications which will allow the rapid production of cancer cells.
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Cancer Cell Int
January 2025
Department of Infectious Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, No. 197, Ruijin 2nd Road, Shanghai, 20025, China.
Background: Methyltransferase-like (METTL) family protein plays a crucial role in the progression of malignancies. However, the function of METTL17 across pan-cancers, especially in hepatocellular carcinoma (HCC) is still poorly understood.
Methods: All original data were downloaded from TCGA, GTEx, HPA, UCSC databases and various data portals.
Cancer Cell Int
January 2025
Department of Laboratory Medicine, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul, 03722, Korea.
Background: The prognosis of a plasma cell neoplasm (PCN) varies depending on the presence of genetic abnormalities. However, detecting sensitive genetic mutations poses challenges due to the heterogeneous nature of the cell population in bone marrow aspiration. The established gold standard for cell sorting is fluorescence-activated cell sorting (FACS), which is associated with lengthy processing times, substantial cell quantities, and expensive equipment.
View Article and Find Full Text PDFJ Muscle Res Cell Motil
January 2025
School of Molecular and Cellular Biology, University of Leeds, Leeds, LS2 9JT, UK.
Biallelic mutations in multiple EGF domain protein 10 (MEGF10) gene cause EMARDD (early myopathy, areflexia, respiratory distress and dysphagia) in humans, a severe recessive myopathy, associated with reduced numbers of PAX7 positive satellite cells. To better understand the role of MEGF10 in satellite cells, we overexpressed human MEGF10 in mouse H-2k-tsA58 myoblasts and found that it inhibited fusion. Addition of purified extracellular domains of human MEGF10, with (ECD) or without (EGF) the N-terminal EMI domain to H-2k-tsA58 myoblasts, showed that the ECD was more effective at reducing myoblast adhesion and fusion by day 7 of differentiation, yet promoted adhesion of myoblasts to non-adhesive surfaces, highlighting the importance of the EMI domain in these behaviours.
View Article and Find Full Text PDFNat Commun
January 2025
Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9PL, UK.
A fundamental obstacle to tackling the antimicrobial resistance crisis is identifying mutations that lead to resistance in a given genomic background and environment. We present a high-throughput technique - Quantitative Mutational Scan sequencing (QMS-seq) - that enables quantitative comparison of which genes are under antibiotic selection and captures how genetic background influences resistance evolution. We compare four E.
View Article and Find Full Text PDFClin Lung Cancer
December 2024
Department of Biostatistics, Yamaguchi University Graduate School of Medicine, Yamaguchi, Japan.
Background: While Epidermal growth factor receptor (EGFR) mutation-positive lung adenocarcinoma (LUAD) has favorable outcomes with targeted therapy, early-stage prognosis remains influenced by pathological factors and central nervous system (CNS) recurrence. The study aimed to clarify prognostic factors in pathological stage (pStage) I EGFR mutation-positive LUAD.
Methods: Between 2015 and 2018, 2,191 pStage I LUAD cases with known EGFR status (excluding EGFR testing after recurrence) who received anatomical resection were included from multiple institutions in Japan.
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