Search results for "Aberration"

showing 10 items of 293 documents

Cytogenetic characterization of HB2 epithelial cells from the human breast.

2014

HB2 is a cell line originated by subcloning of MTSV1-7 mammary luminal epithelial cells isolated from human milk and immortalization via introduction of the gene encoding simian virus 40 (SV40) large T antigen. Despite its wide utilization as non-neoplastic counterpart in assays aimed to elucidating various biochemical and genetical aspects of normal and tumoral breast cells, to our knowledge no literature data have so far appeared concerning the chromosomal characterization of the HB2 cells. Here, we report the cytogenetic characterization of the karyotype of HB2 cells, which puts in evidence the occurrence of changes in chromosomal number and structure and the presence of unidentified chr…

KaryotypeChromosomal translocationBiologyTranslocation GeneticCell LinemedicineHumansBreastSettore BIO/06 - Anatomia Comparata E CitologiaGeneHuman breast HB2 cells G-banded karyotype Jumping translocationGeneticsChromosome AberrationsKaryotypeCell BiologyGeneral MedicineEpitheliumSettore BIO/18 - GeneticaSubcloningmedicine.anatomical_structureCell cultureKaryotypingCancer researchFemaleStem cellDevelopmental biologyDevelopmental BiologyIn vitro cellulardevelopmental biology. Animal
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A region on human chromosome 4 (q35.1→qter) induces senescence in cell hybrids and is involved in cervical carcinogenesis

2005

Human papillomavirus (HPV) types 16 and 18 are known to play a major role in cervical carcinogenesis. Additional genetic alterations are required for the development and progression of cervical cancer. Previously, we showed that the introduction of an entire human chromosome 4 into HPV-immortalized cells by microcell-mediated chromosome transfer (MMCT) can induce senescence in cell hybrids. In the present study, we established eight new murine donor cell lines harboring different fragments of the human chromosome 4. These were tested for their ability to induce senescence by MMCT into HPV16-immortalized keratinocytes (HPK II) and cervical carcinoma cells (HeLa). By exclusion, we could ident…

KeratinocytesSenescenceCancer ResearchChromosome TransferUterine Cervical NeoplasmsLocus (genetics)Hybrid CellsBiologyPolymerase Chain ReactionLoss of heterozygosityGeneticsmedicineHumansAlleleCellular SenescenceIn Situ Hybridization FluorescenceSequence DeletionChromosome AberrationsCervical cancermedicine.diagnostic_testChromosome Mappingmedicine.diseaseMolecular biologyChromosome 4FemaleChromosomes Human Pair 4Microsatellite RepeatsFluorescence in situ hybridizationGenes, Chromosomes and Cancer
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Optical Quality Comparison between Spherical and Aspheric Toric Intraocular Lenses

2014

Purpose To measure and compare the optical quality of spherical and aspheric toric intraocular lenses (IOLs). Methods Wavefront aberrations of AcrySof Toric and IQ Toric IOLs (Alcon Laboratories) for different powers were measured at 3- and 5-mm pupils by Nimo TR0805 instrument. The Zernike coefficients of trefoil, coma, tetrafoil, secondary astigmatism, and spherical aberration were evaluated. The point spread functions (PSFs) of each IOL evaluated were calculated from the wavefront aberrations. The PSF images also were calculated from the IOL wavefront aberrations, adding the cornea's aberrations to simulate the optical quality after their implantation. Results Spherical toric IOLs showed…

Lenses IntraocularWavefrontPhysicsOptics and PhotonicsCorneal Wavefront Aberrationbusiness.industryZernike polynomialsAberrometryAstigmatismComa (optics)General MedicineModels TheoreticalOptical qualityOphthalmologyAlcon LaboratoriesSpherical aberrationsymbols.namesakeOpticsLens Implantation IntraocularIntraocular lensesAberrometrysymbolsHumansbusinessEuropean Journal of Ophthalmology
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WAVEFRONT TESTER: Un nuevo laboratorio virtual para el estudio de los sensores frente de onda.

2016

[EN] We present a new virtual laboratory developed with MatlabcGUI (Graphical User Interface) used toteach di erent aberration eff ects in the "Tecnologi a de Sensores Optoelectr onicos" at "Escuela T ecnicaSuperior de Ingenier a del Diseño" of the Universitat Polit ecnica de Val encia. The objective of this lab is to provide a computer tool to study the working principle of a Shack Hartman sensor and the parameters that determine the dynamic range of the same. Some examples made with di fferent aberrations (defocus,astigmatism, coma) and for diff erent sensor con gurations are presented.

MATLABAberraciones02 engineering and technologyGeneral MedicineGeneral ChemistryWavefront sensors01 natural scienceslcsh:Education (General)aberraciones sensores de frente de onda MATLAB.010309 opticsAberrations020210 optoelectronics & photonics0103 physical sciencesSensores de frente de onda0202 electrical engineering electronic engineering information engineeringlcsh:L7-991Modelling in Science Education and Learning
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The genetic tumor background is an important determinant for heterogeneous MYCN ‐amplified neuroblastoma

2016

Amplification of MYCN is the signature genetic aberration of 20–25% of neuroblastoma and a stratifying marker associated with aggressive tumor behavior. The detection of heterogeneous MYCN amplification (hetMNA) poses a diagnostic dilemma due to the uncertainty of its relevance to tumor behavior. Here, we aimed to shed light on the genomic background which permits hetMNA in neuroblastoma and tied the occurrence to other stratifying markers and disease outcome. We performed SNP analysis using Affymetrix Cytoscan HD arrays on 63 samples including constitutional DNA, tumor, bone marrow and relapse samples of 26 patients with confirmed hetMNA by MYCN‐FISH. Tumors of patients ≤18m were mostly an…

Male0301 basic medicineCancer ResearchPathologymedicine.medical_specialtyTumor Markers and Signaturesuniparental disomyAdolescentMYCN amplificationAneuploidyBiologyPolymorphism Single NucleotideN-Myc Proto-Oncogene ProteinBenign tumorGenetic HeterogeneityNeuroblastoma03 medical and health sciences0302 clinical medicineNeuroblastomamedicineHumansChildIn Situ Hybridization FluorescenceChromosome AberrationsOncogene ProteinsN-Myc Proto-Oncogene ProteinGenetic heterogeneityGene AmplificationInfantNuclear ProteinsAneuploidymedicine.diseaseUniparental disomy030104 developmental biologyOncologyChild Preschool030220 oncology & carcinogenesisintratumoral heterogeneityCancer researchFemaleChromosome DeletionTrisomySNP arrayInternational Journal of Cancer
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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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Influence of GSM signals on human peripheral lymphocytes: study of genotoxicity.

2013

Exposure to radiofrequency (RF) electromagnetic fields (EMF) is continuously increasing worldwide. Yet, conflicting results of a possible genotoxic effect of RF EMF continue to be discussed. In the present study, a possible genotoxic effect of RF EMF (GSM, 1,800 MHz) in human lymphocytes was investigated by a collaboration of six independent institutes (institutes a, b, c, d, e, h). Peripheral blood of 20 healthy, nonsmoking volunteers of two age groups (10 volunteers 16-20 years old and 10 volunteers 50-65 years old) was taken, stimulated and intermittently exposed to three specific absorption rates (SARs) of RF EMF (0.2 W/kg, 2 W/kg, 10 W/kg) and sham for 28 h (institute a). The exposures…

MaleAdolescentEndpoint DeterminationRadio WavesBiophysicsmedicine.disease_causeRadiation DosageChromosome aberrationAge groupsSurveys and QuestionnairesmedicineHumansRadiology Nuclear Medicine and imagingLymphocytesRadiationbusiness.industryMutagenicity TestsAge FactorsMiddle AgedPeripheral bloodPeripheralNuclear medicinebusinessLaboratoriesGenotoxicityCell PhoneRadiation research
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Frequency of dicentrics and contamination levels in Ukrainian children and adolescents from areas near Chernobyl 20 years after the nuclear plant acc…

2013

International audience; Purpose To survey the possible presence of chromosomal damage and internal contamination in a group of Ukrainian children and adolescents, 20 years after the Chernobyl accident at the Nuclear Power Plant. Materials and methods Cytogenetical procedures were performed according to dicentric assay in 55 Ukrainian children and adolescents (29 boys and 26 girls), living near Chernobyl. In addition, a whole body detector and urinalysis were used to detect internal contamination. Results 36 dicentrics were found in a total of 53,477 metaphases scored in these children, which reflected a frequency of dicentrics below the background level. On the other hand, internal contamin…

MaleAdolescentUkrainian[SDV]Life Sciences [q-bio]educationNuclear plantChernobyl Nuclear AccidentRadiation Dosage030218 nuclear medicine & medical imaging03 medical and health sciencesDicentric chromosome0302 clinical medicineRadiation OverexposureEnvironmental healthDosimetryMedicineChromosomes HumanHumansRadiology Nuclear Medicine and imagingChildChromosome AberrationsRadiological and Ultrasound Technologybusiness.industryContaminationlanguage.human_languagehumanities3. Good healthBackground levelChernobyl Nuclear Accident030220 oncology & carcinogenesisCytogenetic AnalysislanguageBody BurdenFemaleNuclear medicinebusinessUkraineInternational journal of radiation biology
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A conserved role for the mitochondrial citrate transporter Sea/SLC25A1 in the maintenance of chromosome integrity.

2009

Histone acetylation plays essential roles in cell cycle progression, DNA repair, gene expression and silencing. Although the knowledge regarding the roles of acetylation of histone lysine residues is rapidly growing, very little is known about the biochemical pathways providing the nucleus with metabolites necessary for physiological chromatin acetylation. Here, we show that mutations in the scheggia (sea)-encoded Sea protein, the Drosophila ortholog of the human mitochondrial citrate carrier Solute carrier 25 A1 (SLC25A1), impair citrate transport from mitochondria to the cytosol. Interestingly, inhibition of sea expression results in extensive chromosome breakage in mitotic cells and indu…

MaleAnion Transport ProteinsBlotting WesternMolecular Sequence DataOrganic Anion Transporterscitrate transporterSAP30BiologyModels BiologicalHistonesMitochondrial ProteinsHistone H2AGeneticsHistone codeAnimalsDrosophila ProteinsHumansAmino Acid SequenceCitratesSLC25A1Molecular BiologyGenetics (clinical)Cells CulturedConserved SequenceChromosome Aberrationsmetabolism epigenetics histone acetylation AcCoA Citrate carrierSequence Homology Amino AcidChromosome integrityhistone acetylationHDAC8AcetylationChromosome BreakageGeneral MedicineCitrate transportFibroblastsHDAC4mitochondriaHistoneBiochemistryAcetylationMutationcitrate transporter histone acetylationbiology.proteinFemaleRNA InterferenceCarrier ProteinsHuman molecular genetics
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Amplification of ETS2 oncogene in acute nonlymphoblastic leukemia with t(6;21;18).

1992

Cytogenetic and molecular studies in a case of acute nonlymphoblastic leukemia (ANLL) are reported in this paper. Bone marrow blasts carried a hypodiploid karyotype with a complex t(6;18;21)(6qter----6p21::21q22----21qter;18qter ----18p11::6p22----6pter; 21pter----21q22::6p21----6p22::18p11----18pte r) and other numerical and structural changes. We studied the organization and the expression of the ETS2 gene which is located on chromosome 21 in order to investigate its possible involvement in the disease. DNA analysis showed a 20-fold amplification of ETS2 sequences; an increase of 3- to 4-fold in the mRNAs level compared to normal was shown by Northern hybridization.

MaleCancer ResearchChromosomes Human Pair 21Chromosomal translocationBiologyTranslocation GeneticProto-Oncogene Protein c-ets-2Proto-Oncogene ProteinsGene duplicationGeneticsmedicineHumansNorthern blotMolecular BiologySouthern blotAgedChromosome AberrationsOncogeneGene AmplificationKaryotypeProtein-Tyrosine KinasesBlotting NorthernMolecular biologyDNA-Binding ProteinsRepressor ProteinsBlotting SouthernLeukemia Myeloid Acutemedicine.anatomical_structureCancer researchTrans-ActivatorsChromosomes Human Pair 6Bone marrowChromosome 21Chromosomes Human Pair 18Transcription FactorsCancer genetics and cytogenetics
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