Search results for "Chromosomal Aberrations"

showing 6 items of 6 documents

Identification of metastasis-related genes by genomic and transcriptomic studies in murine melanoma.

2021

Abstract Aims We systematically characterized metastatic murine B16-F10 melanoma, a sub-line derived from murine melanoma B16-F1 cells. Materials and methods RNA-sequencing and network analyses (Ingenuity Pathway Analysis) were performed to identify novel potential metastasis mechanisms. Chromosomal aberrations were identified by multicolor fluorescence in situ hybridization (mFISH) using all 21 murine whole chromosome painting probes. Key findings Numerous genes were overexpressed in B16-F10 cells, some of which have been already described as being metastasis-linked. Nr5a1/sf1, a known prognostic marker for adrenal tumors, was 177-fold upregulated in B16-F10 cells compared to B16-F1 cells.…

0301 basic medicinemedicine.medical_specialtyMelanoma ExperimentalBiologymedicine.disease_cause030226 pharmacology & pharmacyGeneral Biochemistry Genetics and Molecular BiologyMetastasisTranscriptome03 medical and health sciencesMice0302 clinical medicineCell Line TumormedicineAnimalsGeneral Pharmacology Toxicology and PharmaceuticsNeoplasm MetastasisneoplasmsMelanomaIn Situ Hybridization FluorescenceGenomemedicine.diagnostic_testSequence Analysis RNAMelanomaCytogeneticsCancerGeneral MedicineGenomicsmedicine.diseasecarcinogenesis ; chromosomal aberrations ; cytogenetics ; melanoma ; rna-sequencing ; transcriptomicsSquamous carcinomaMice Inbred C57BL030104 developmental biologyCancer researchCarcinogenesisTranscriptomeFluorescence in situ hybridizationLife sciences
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Imbalance between genomic gain and loss identifies high-risk neuroblastoma patients with worse outcomes

2021

Survival in high-risk neuroblastoma (HR-NB) patients remains poor despite multimodal treatment. We aimed to identify HR-NB patients with worse outcomes by analyzing the genomic instability derived from segmental chromosomal aberrations. We calculated 3 genomic instability indexes for primary tumor SNP array profiles from 127 HR-NB patients: (1) Copy number aberration burden (%gainslength+%losseslength), (2) copy number load (CNL) (%gainslength-%losseslength) and (3) net genomic load (NGL) (%gainsamount-%lossesamount). Tumors were classified according to positive or negative CNL and NGL genomic subtypes. The impact of the genomic instability indexes on overall survival (OS) was assessed with…

Male0301 basic medicineGenome instabilityOncologyCancer ResearchCopy number loadSNPa single nucleotide polymorphism arrayNeuroblastoma0302 clinical medicineHigh risk neuroblastomaSegmental chromosomal aberrationsHR high-riskCNA copy number aberrationTumor biologyCNL copy number loaddNGL decreased net genomic loadlcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensPrognosisPrimary tumornCNL negative copy number loadGI genomic instabilityHomogeneous030220 oncology & carcinogenesisMNA MYCN-amplificationFemaleHR-NB high-risk neuroblastomaNB neuroblastomaSNP arrayOriginal articlemedicine.medical_specialtyDNA Copy Number VariationsiNGL increased net genomic loadpCNL positive copy number loadhetMNA heterogeneous MYCN-amplificationlcsh:RC254-282Polymorphism Single NucleotideGenomic InstabilityUHR ultra-high-riskOS overall survivalNet genomic load03 medical and health sciencesSCA segmental chromosomal aberrationInternal medicineNeuroblastomamedicineHumansNGL net genomic loadGenetic Predisposition to DiseaseGenomic imbalanceGenetic Association StudiesEFS event-free survivalProportional Hazards ModelsChromosome AberrationsPloidieshomMNA homogeneous MYCN-amplificationProportional hazards modelbusiness.industryGene AmplificationGenetic Variationmedicine.diseasePatient Outcome AssessmentCopy number aberration burden030104 developmental biologybusinessNeoplasia
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Distinct Xp11.2 breakpoints in two renal cell carcinomas exhibiting X;autosome translocations

1995

Several human renal cell carcinomas with X;autosome translocations have been reported in recent years. The t(X; I)(p11.2;q21) appears to be a specific primary anomaly, suggesting that tumors with this translocation form a distinct subgroup of RCC. Here we report two new cases, one with a t(X;10)(p11.2;q23), the other with a t(X;1)(p11.2;p34). The common breakpoint in Xp11.2 suggests that they belong to the above-mentioned subset of RCC. Using FISH in conjunction with X-specific YAC clones, we demonstrate that the two new cases exhibited distinct breakpoints within Xp11.2. (C) 1995 Wiley-Liss, Inc.

MaleCancer Researchmedicine.medical_specialtycongenital hereditary and neonatal diseases and abnormalitiesX ChromosomeChromosomal translocationBiologyTranslocation GeneticCLASSIFICATIONCHILDGeneticsmedicineCarcinomaHumansDe rol van chromosoomafwijkingen en (anti-)oncogenen in humane tumorenCarcinoma Renal CellGeneralLiterature_REFERENCE(e.g.dictionariesencyclopediasglossaries)In Situ Hybridization FluorescenceX chromosomeAgedGeneticsAutosomeBreakpointCytogeneticsKaryotypeADENOCARCINOMAMiddle Agedmedicine.diseaseMolecular biologyTUMORSCYTOGENETICSKidney NeoplasmsChromosome BandingAdenocarcinomaThe role of chromosomal aberrations and (anti-)oncogenes in human tumoursGenes, chromosomes & cancer
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Convergent adaptation of Saccharomyces uvarum to sulfite, an antimicrobial preservative widely used in human-driven fermentations

2021

Different species can find convergent solutions to adapt their genome to the same evolutionary constraints, although functional convergence promoted by chromosomal rearrangements in different species has not previously been found. In this work, we discovered that two domesticated yeast species, Saccharomyces cerevisiae, and Saccharomyces uvarum, acquired chromosomal rearrangements to convergently adapt to the presence of sulfite in fermentation environments. We found two new heterologous chromosomal translocations in fermentative strains of S. uvarum at the SSU1 locus, involved in sulfite resistance, an antimicrobial additive widely used in food production. These are convergent events that …

Metabolic ProcessesCancer ResearchAdaptation BiologicalYeast and Fungal ModelsArtificial Gene Amplification and ExtensionWineChromosomal translocationQH426-470BiochemistryGenomeTranslocation Geneticchemistry.chemical_compoundAnti-Infective AgentsMedicine and Health SciencesPromoter Regions GeneticPhylogenyGenetics (clinical)GeneticsChromosome BiologyAlcoholic BeveragesEukaryotaGenomicsChromosomal AberrationsPolymerase chain reactionChemistryExperimental Organism SystemsPhysical SciencesChromosomes FungalResearch ArticleSaccharomyces cerevisiae ProteinsAnion Transport ProteinsSaccharomyces cerevisiaeLocus (genetics)Saccharomyces cerevisiaeChromosomal translocationsBiologyResearch and Analysis MethodsBeveragesSaccharomycesModel OrganismsSulfiteGeneticsHumansSulfitesMolecular Biology TechniquesMolecular BiologyGeneEcology Evolution Behavior and SystematicsNutritionChemical CompoundsOrganismsFungiBiology and Life SciencesCell Biologybiology.organism_classificationYeastYeastDietMetabolismchemistryFermentationFood PreservativesAnimal StudiesAdaptationPLOS Genetics
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Two immortalized rat astrocyte cell lines as in vitro model for specific cell proliferation studies: cytogenetic and epigenomic characterization and …

2018

Here we report differences between: 1) a heterogeneous population of primary rat brain astrocytes (Primary), in culture since several years ago, and 2) a cloned cell line (Clone), obtained from the Primary cells. Both populations maintain astrocyte morphology but, according to cytogenetic and epigenomic characterization, differ for the chromosomal asset from rat normal cells (42 chromosomes): Primary cells show mostly a bimodal karyotype with 41 or 43 chromosomes, and Clone has a unique-modal karyotype of 43 chromosomes. Interestingly, we also found that both cell lines show genome-wide DNA hypomethylation, with Clone showing even more pronounced demethylation respect to Primary cells. Thes…

Settore BIO/18 - GeneticaSettore BIO/10 - BiochimicaAstrocyte Chromosomal aberrations Genomewide DNA methylation.Settore BIO/06 - Anatomia Comparata E Citologia
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Genetic and Molecular Characterization of The Human Osteosarcoma 3AB-OS Cancer Stem Cell Line: A Possible Model For Studying Osteosarcoma Origin and …

2013

Finding new treatments targeting cancer stem cells (CSCs) within a tumor seems to be critical to halt cancer and improve patient survival. Osteosarcoma is an aggressive tumor affecting adolescents, for which there is no second-line chemotherapy. Uncovering new molecular mechanisms underlying the development of osteosarcoma and origin of CSCs is crucial to identify new possible therapeutic strategies. Here, we aimed to characterize genetically and molecularly the human osteosarcoma 3AB-OS CSC line, previously selected from MG63 cells and which proved to have both in vitro and in vivo features of CSCs. Classic cytogenetic studies demonstrated that 3AB-OS cells have hypertriploid karyotype wit…

cancer stem cellsPhysiologyClinical Biochemistrymedicine.disease_causePolymerase Chain ReactionOsteosarcoma cancer stem cellSettore BIO/10 - BiochimicaChromosomes HumanGene Regulatory NetworksCopy-number variationOligonucleotide Array Sequence AnalysisGeneticsComparative Genomic HybridizationOsteosarcomabiologychromosomal aberrationGene Expression Regulation NeoplasticPhenotypemiRNAsNeoplastic Stem CellsOsteosarcomaMitosisBone NeoplasmsHMGA2Cancer stem cellCell Line TumormicroRNABiomarkers Tumorgene expression profilingmedicineHumansOsteosarcoma cancer stem cells; karyotype; chromosomal aberrations; gene expression profiling; miRNAsCell LineageGenetic Predisposition to DiseaseRNA MessengerCell NucleusChromosome AberrationsPloidiesModels GeneticComputational BiologyCancerCell Biologymedicine.diseasekaryotypeMicroRNAsKaryotypingbiology.proteinCancer researchCarcinogenesisComparative genomic hybridization
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