Search results for "aberrations"

showing 10 items of 192 documents

Mechanisms and consequences of methylating agent-induced SCEs and chromosomal aberrations: a long road traveled and still a far way to go.

2003

Since the milestone work of Evans and Scott, demonstrating the replication dependence of alkylation-induced aberrations, and Obe and Natarajan, pointing to the critical role of DNA double-strand breaks (DSBs) as the ultimate trigger of aberrations, the field has grown extensively. A notable example is the identification of DNA methylation lesions provoking chromosome breakage (clastogenic) effects, which made it possible to model clastogenic pathways evoked by genotoxins. Experiments with repair-deficient mutants and transgenic cell lines revealed both O<sup>6</sup>-methylguanine (O<sup>6</sup>MeG) and N- methylpurines as critical lesions. For S<sub>N</sub&g…

DNA ReplicationAlkylating AgentsGuanineDNA RepairDNA damageDNA repairBase Pair MismatchApoptosisBiologyMethylationLesionAnimals Genetically ModifiedMiceO(6)-Methylguanine-DNA MethyltransferaseCricetulusCricetinaeGeneticsmedicineAnimalsHumansPoint MutationAP siteMolecular BiologyGenetics (clinical)Chromosome AberrationsRecombination GeneticGuanosineModels GeneticCell CycleDNA replicationDNAFibroblastsMolecular biologyCell killingCell Transformation NeoplasticCancer researchDNA mismatch repairChromosome breakagemedicine.symptomSister Chromatid ExchangeDNA DamageMutagensCytogenetic and genome research
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Chromosomal instability, reproductive cell death and apoptosis induced by O6-methylguanine in Mex−, Mex+ and methylation-tolerant mismatch repair com…

1998

O6-Methylguanine (O6-MeG) is induced in DNA by methylating environmental carcinogens and various cytostatic drugs. It is repaired by O6-methylguanine-DNA methyltransferase (MGMT). If not repaired prior to replication, the lesion generates gene mutations and leads to cell death, sister chromatid exchanges (SCEs), chromosomal aberrations and malignant transformation. To address the question of how O6-MeG is transformed into genotoxic effects, isogenic Chinese hamster cell lines either not expressing MGMT (phenotypically Mex-), expressing MGMT (Mex+) or exhibiting the tolerance phenotype (Mex-, methylation resistant) were compared as to their clastogenic response. Mex- cells were more sensitiv…

DNA ReplicationMethylnitronitrosoguanidineGuanineDNA RepairDNA damageHealth Toxicology and MutagenesisDrug ResistanceApoptosisCHO CellsGene mutationBiologyChromosomesDNA AdductsO(6)-Methylguanine-DNA MethyltransferaseCricetulusCricetinaeChromosome instabilityGeneticsAnimalsSister chromatidsMolecular BiologyMitosisChromosome AberrationsCell DeathModels GeneticMutagenicity TestsDNA replicationDNA MethylationMolecular biologyDNA methylationDNA mismatch repairSister Chromatid ExchangeMutation Research/Fundamental and Molecular Mechanisms of Mutagenesis
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Genomic instability induced by α-pinene in Chinese hamster cell line.

2012

Here, we report the effects of exposure of mammalian cells to α-pinene, a bicyclic monoterpene used in insecticides, solvents and perfumes. Morphological analysis, performed in V79-Cl3 cells exposed for 1 h to increasing concentrations (25 up to 50 μM) of α-pinene, indicated a statistically significant increase in micronucleated and multinucleated cell frequencies; apoptotic cells were seen at 40 and 50 μM. This monoterpene caused genomic instability by interfering with mitotic process; in fact, 50% of cells (versus 19% of control cells) showed irregular mitosis with multipolar or incorrectly localised spindles. Cytogenetic analysis demonstrated high-frequency hypodiploid metaphases as well…

DNA damageHealth Toxicology and MutagenesisApoptosisToxicologymedicine.disease_causeChinese hamsterGenomic InstabilityColony-Forming Units AssayImmunoenzyme TechniquesMultinucleateCricetulusGenomic instability hamster cell lines a-pineneCricetinaeGeneticsmedicineAnimalsMitosisGenetics (clinical)Cells CulturedMicronuclei Chromosome-DefectiveBicyclic MonoterpenesChromosome AberrationsMicronucleus Testsbiologybiology.organism_classificationMolecular biologyComet assaySettore BIO/18 - GeneticaOxidative StressCell cultureMicronucleus testMonoterpenesComet AssayReactive Oxygen SpeciesOxidative stressDNA DamageMutagenesis
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Transformation of follicular lymphoma to diffuse large cell lymphoma is associated with a heterogeneous set of DNA copy number and gene expression al…

2002

AbstractGenomic aberrations in a series of paired biopsy samples from patients who presented initially with follicle center lymphoma (FCL) and subsequently transformed to diffuse large B-cell lymphoma (DLBCL) were measured by array comparative genomic hybridization (CGH). The consequences of these aberrations on gene expression were determined by comparison with expression analysis on these specimens using cDNA microarrays. A heterogeneous pattern of acquired genomic abnormalities was observed upon transformation, some of which were recurrent in small subsets of patients. Some of the genomic aberration acquired upon transformation, such as gain/amplification of 1q21-q24, 2p16 (REL/BCL11A ge…

DNA ComplementaryImmunologyFollicular lymphomaLocus (genetics)BiologyAllelic ImbalanceBiochemistryGene duplicationmedicineChromosomes HumanHumansGeneLymphoma FollicularOligonucleotide Array Sequence AnalysisGeneticsChromosome AberrationsGene Expression ProfilingGene AmplificationCell BiologyHematologyDNA Neoplasmmedicine.diseaseBCL6Gene Expression Regulation NeoplasticCell Transformation NeoplasticDisease ProgressionLymphoma Large B-Cell DiffuseDNA microarrayChromosome DeletionDiffuse large B-cell lymphomaComparative genomic hybridizationBlood
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Parallel laser micromachining based on diffractive optical elements with dispersion compensated femtosecond pulses

2013

We experimentally demonstrate multi-beam high spatial resolution laser micromachining with femtosecond pulses. The effects of chromatic aberrations as well as pulse stretching on the material processed due to diffraction were significantly mitigated by using a suited dispersion compensated module (DCM). This permits to increase the area of processing in a factor 3 in comparison with a conventional setup. Specifically, 52 blind holes have been drilled simultaneously onto a stainless steel sample with a 30 fs laser pulse in a parallel processing configuration.

DiffractionFemtosecond pulse shapingMaterials scienceChromatic aberrationElectromagnetic pulseDiffraction efficiencyEngineering controlled termsUltrashort pulseslaw.inventionOpticslawLaser micro-machiningChromatic aberrationParallel processingDispersionsElectromagnetic pulseHigh spatial resolutionbusiness.industryEngineering main headingLaserBlind holesAtomic and Molecular Physics and OpticsAberrationsPulse stretchingParallel processing (DSP implementation)Fs laser pulseFemtosecondbusinessOptics Express
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Alterations in the organization of the isocortical layer I in trisomy 22.

1999

The isocortical layer I of human fetal brains obtained from different cases of chromosomal abnormalities (trisomy 18, 21, 22) and controls without pathological disturbances were investigated histologically and immunohistochemically by using the antibodies SMI 311, SMI 35 and SMI 81 (SNAP 25) as well as antibodies against GAP 43 and calretinin. In cases of trisomy 22 the Cajal-Retzius cells in Nissl-sections and in SMI 311-immunopreparations do not reveal any alterations regarding their location or morphology. However, the axonal plexus, selectively labelled with SMI 35, normally located in layer Ib, is malpositioned in Ia. Likewise, SNAP 25- and GAP 43-immunoreactive structures, which were …

Down syndromePathologymedicine.medical_specialtyChromosomes Human Pair 21Chromosomes Human Pair 22SynaptogenesisChromosome DisordersNerve Tissue ProteinsTrisomyTrisomy 22FetusGAP-43 ProteinS100 Calcium Binding Protein GmedicineHumansGap-43 proteinChromosome AberrationsPlexusbiologyGeneral NeuroscienceSnapBrainGeneral MedicineAnatomymedicine.diseasenervous systemCalbindin 2biology.proteinCalretininDown SyndromeTrisomyChromosomes Human Pair 18Neuroscience research
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Tumour vascularization via endothelial differentiation of glioblastoma stem-like cells

2010

Glioblastoma is a highly angiogenetic malignancy, the neoformed vessels of which are thought to arise by sprouting of pre-existing brain capillaries. The recent demonstration that a population of glioblastoma stem-like cells (GSCs) maintains glioblastomas indicates that the progeny of these cells may not be confined to the neural lineage. Normal neural stem cells are able to differentiate into functional endothelial cells. The connection between neural stem cells and the endothelial compartment seems to be critical in glioblastoma, where cancer stem cells closely interact with the vascular niche and promote angiogenesis through the release of vascular endothelial growth factor(VEGF) and str…

EndotheliumAngiogenesisTransplantation HeterologousSettore MED/27 - NEUROCHIRURGIAMice TransgenicMice SCIDBiologyModels BiologicalMiceVasculogenesisNeural Stem CellsMice Inbred NODCell Line TumormedicineAnimalsHumansCell LineageVasculogenic mimicryglioblastoma tumor vascularizationIn Situ Hybridization FluorescenceChromosome AberrationsMultidisciplinaryNeovascularization PathologicEndothelial CellsCell DifferentiationVascular endothelial growth factor BEndothelial stem cellVascular endothelial growth factor Amedicine.anatomical_structureVascular endothelial growth factor CTumor Markers BiologicalImmunologyCancer researchEndothelium VascularGlioblastomaNeoplasm TransplantationNature
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Comparative analysis of DNA breakage, chromosomal aberrations and apoptosis induced by the anti-herpes purine nucleoside analogues aciclovir, gancicl…

2002

Nucleoside analogues have been used in antiviral therapy and suicide cancer gene therapy. Therefore, it is of importance to compare their potential cytotoxic and genotoxic action. Using metabolically competent CHO cells expressing the thymidine kinase gene of herpes simplex virus type 1 (CHO-HSVtk cells) as a model system, the induction of DNA breaks was compared with the induction of structural chromosomal aberrations and apoptosis/necrosis after exposure to the anti-herpes nucleoside analogues aciclovir (ACV), ganciclovir (GCV) and penciclovir (PCV). After continuous treatment of CHO-HSVtk cells with the drugs, LD(10) in a colony-forming assay was 50, 0.5 and 1 microM for ACV, GCV and PCV…

GanciclovirGuanineDNA damagevirusesHealth Toxicology and MutagenesisAcyclovirApoptosisCHO CellsBiologymedicine.disease_causeAntiviral AgentsThymidine KinaseChromosomesColony-Forming Units AssayNecrosisCricetulusCricetinaeGeneticsmedicineCytotoxic T cellAnimalsSimplexvirusAciclovirEnzyme InhibitorsMolecular BiologyGanciclovirChromosome AberrationsDNAMolecular biologyHerpes simplex virusApoptosisPenciclovirNucleosidemedicine.drugDNA DamageMutation research
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FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited S…

2005

Supernumerary marker chromosomes (SMCs) are frequently found at pre- and postnatal cytogenetic diagnosis and require identification. A disproportionally large subset of SMCs is derived from the human chromosome 22 and confers tri- or tetrasomy for the cat eye chromosomal region (CECR, the proximal 2 Mb of chromosome 22q) and/or other segments of 22q. Using fluorescence in situ hybridization (FISH) and 15 different DNA probes, we studied nine unrelated patients with an SMC(22) that contained the CECR. Five patients showed the small (type I) cat eye syndrome (CES) chromosome and each one had the larger (type II) CES chromosome, small ring chromosome 22, der(22)t(11;22) extrachromosome, and a …

Genetic MarkersChromosomes Human Pair 22Marker chromosomeRing chromosomeAnal CanalTrisomyBiologyCraniofacial AbnormalitiesGeneticsmedicineHumansAbnormalities MultipleSmall supernumerary marker chromosomeIn Situ Hybridization FluorescenceGenetics (clinical)Chromosome AberrationsGeneticsmedicine.diagnostic_testSyndromemedicine.diseaseMolecular biologyCat eye syndromeColobomaChromosome 17 (human)Chromosome 21Chromosome 22Fluorescence in situ hybridizationEuropean Journal of Human Genetics
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Family studies in scleroderma (systemic sclerosis) demonstrating an HLA-linked increased chromosomal breakage rate in cultured lymphocytes

1988

An increased chromosomal breakage rate (ICBR) was found in 27 of 28 patients with scleroderma (systemic sclerosis, SS) - 5 with the syndrome including calcinosis cutis, Raynaud phenomenon, esophagus hypomotility, sclerodactyly and telangiectasia (CREST), 4 incomplete CREST, 1 overlapping syndrome, 18 progressive systemic sclerosis (PSS). Not only the patients, but also about half of their first-degree relatives showed an increased chromosomal breakage rate (more than 5 breaks per 100 metaphases). This character segregated as a dominant marker in nine families of scleroderma patients. In the six informative of the nine families, the ICBR trait showed close linkage with the HLA region on chro…

Genetic MarkersMaleSystemic diseaseGenetic LinkageHuman leukocyte antigenBiologySclerodermaCalcinosis cutisHLA AntigensGeneticsmedicineHumansLymphocytesCells CulturedGenetics (clinical)Chromosome AberrationsAutoimmune diseaseScleroderma SystemicSclerodactylyChromosome Fragilitymedicine.diseaseConnective tissue diseasePedigreeHaplotypesImmunologyFemalemedicine.symptomHuman Genetics
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