Search results for "chromosome aberration"

showing 10 items of 160 documents

Organometallic complexes with biological molecues, part 3.in vivo cytotoxicity of diorganotin (IV) chloro and triorganotin (IV) chloro derivatives of…

1994

In order to obtain a continuous source of mitotic metaphases, gill tissue of Aphaius fasciatus (Pisces, Cyprinodontiformes) has been successfully employed. Results gathered after exposure of fish to R2SnClpenG, R3SnClpenGNa, to the parents R2SnCl2, R3SnCl and to penGNa (penGNa = penicillinGNa; R = methyl, butyl and phenyl) suggest that both the parent organotin (IV) chloride and organotin (IV) chloropenG derivatives are toxic while penGNa exerts no significant toxic activity. Essentially, all of the chromosome abnormalities are classifiable as irregularly staining of chromosomes, breakages, side-arm bridges or pseudochiasmata.

biologyStereochemistryChemistryMutagenBiological activityGeneral Chemistrybiology.organism_classificationmedicine.disease_causeChromosome aberrationStainingInorganic ChemistryIn vivomedicineCyprinodontiformesMitosisGenotoxicityApplied Organometallic Chemistry
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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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Langer-Giedion syndrome with interstitial 8q-deletion.

1982

We describe a 12-year-old girl with Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II) who also had vertebral malformations. Chromosome analysis identified an interstitial del(8q): 46,XX,del(8)(pter leads to q22::q234 leads to qter) as a cause of this syndrome.

congenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyChromosome DisordersNoseBone and BonesLanger–Giedion syndromeFingersChromosome analysisInternal medicineIntellectual Disabilityotorhinolaryngologic diseasesMedicineHumansAbnormalities MultipleChildGenetics (clinical)Chromosome AberrationsChromosomes Human 6-12 and XSyndrome typebusiness.industryAnatomySyndromemedicine.diseaseSpineChromosome BandingEndocrinologyKaryotypingFemaleChromosome DeletionbusinessAmerican journal of medical genetics
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Aneiploīdija, dzimumhromosomu izmaiņas un mejotisko gēnu ekspresija vīriešu ļaundabīgajos audzējos: Iespējamā mejotiskā izcelsme

2017

Novērots, ka vairākos vēža tipos DNS sadalījums para-triploīdajā diapazonā (ap 69 hromosomām) ir bieži saistīts ar lielāku ļaundabīgumu, paaugstinātu rezistenci pret ķīmijterapiju un nelabvēlīgu prognozi pacientam. Šobrīd vadošā teorija uzskata, ka triploīdās vēža šūnas veidojas no tetraploīdajām nejaušo anomālo mitožu sērijas rezultātā. Tomēr jaunākie novērojumi liecina, ka triploīdijas rašanās var nebūt pilnīgi nejauša un ka tā varētu būt iesaistīta vēža attīstības svarīgākajās stadijās. Sakarā ar jaunākajiem novērojumiem par to, kādu lomu spēlē vēža cilmes šūnas audzēju pašatjaunošanās procesā, zinātnieki sāka atkārtoti pievērsties 19. gadsimta teorijai, kura uzskata, ka vēža šūnu evolūc…

male cancerstriploidymeiotic genessex chromosome aberrationsmeiosisBioloģija
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Pigmented esthesioneuroblastoma showing dual differentiation following transplantation in nude mice

1989

Esthesioneuroblastoma (ESTH) is a neuroepithelial-cell-derived neoplasm of the olfactory mucosa composed of homogeneous small round cells which contain neurosecretory granules. Melanin has been detected in such tumours only occasionally. Here we describe a new case of ESTH with divergent differentiation. The primary neoplasm was found in a 67 year-old female, involving the left nasal and maxillary sinus; she died of cerebral metastasis ten months after diagnosis. Histologically only small round cells were seen, with S-100 and NSE positivity. Electron microscopy revealed neurosecretory granules and filaments, as well as the occasional presence of melanosomes. A nude mice xenograft line has b…

medicine.medical_specialtyCell typePathologyTransplantation HeterologousMice NudeBiologyPathology and Forensic MedicineMiceOlfactory mucosaEsthesioneuroblastomaTumor Cells CulturedmedicineAnimalsHumansNeuroectodermal Tumors Primitive PeripheralMolecular BiologyAgedChromosome AberrationsChromosome 7 (human)Olfactory NeuroblastomaCytogeneticsCell BiologyGeneral Medicinemedicine.diseaseImmunohistochemistryPrimary NeoplasmTransplantationMicroscopy Electronmedicine.anatomical_structureFemaleNeoplasm TransplantationVirchows Archiv A Pathological Anatomy and Histopathology
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Establishment and Characterization of a Continuous Human Chondrosarcoma Cell Line, ch-2879: Comparative Histologic and Genetic Studies with Its Tumor…

2003

Chondrosarcomas are malignant cartilage-forming tumors that represent the second most common malignant solid tumor of bone. These biologically poorly understood neoplasms vary considerably in clinical presentation and biologic behavior. Chemotherapy and radiation therapy are generally ineffective. Here we describe the establishment and characterization of a new human chondrosarcoma cell line named ch-2879, and we compare the cell line with its tumor of origin. The cell line was established from a recurrent grade 3 chondrosarcoma of the chest wall and characterized by growth kinetics and morphologic studies. Immunocytochemistry and RT-PCR were performed to examine the expression of cartilage…

medicine.medical_specialtyPathologyPopulationCell Culture TechniquesChondrosarcomaBone NeoplasmsChromosomal translocationVimentinPathology and Forensic MedicineCyclin D1Tumor Cells CulturedmedicineHumanseducationMolecular BiologyMetaphaseChromosome Aberrationseducation.field_of_studymedicine.diagnostic_testbiologyCytogeneticsKaryotypeCell BiologyFlow Cytometrymedicine.diseaseMicroscopy ElectronKaryotypingbiology.proteinCancer researchChondrosarcomaFluorescence in situ hybridizationLaboratory Investigation
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The world of twins: an update

2010

In last years, owing to the widespread availability of assisted-reproduction technology, multiple pregnancy rates in Western countries have increased. In twin pregnancies, an increased rate of gestational complications, intrauterine growth restriction (IUGR), preterm birth and severe perinatal conditions is present. These complications are more frequent in monozygotic twins compared to dizygotic twins as well as an increased relative risk of chromosomal abnormalities and congenital malformation. Monochorionic twins are at higher risk for complications, since they share a common placenta where an imbalance in unidirectional arteriovenous anastomoses can lead to twin#x2013;twin transfusion sy…

medicine.medical_specialtyTwinsIntrauterine growth restrictionInfant Newborn DiseasesCongenital AbnormalitiesTwins monozygotic dizygotic twin–twin transfusion syndrome selective intrauterine growth restriction developmental delaySettore MED/38 - Pediatria Generale E SpecialisticaPregnancyPlacentaDiseases in TwinsHumansMedicineChromosome AberrationsPregnancyFetusbusiness.industryObstetricsMortality rateInfant NewbornObstetrics and Gynecologymedicine.diseasemedicine.anatomical_structureRelative riskPediatrics Perinatology and Child HealthGestationFemaleMonochorionic twinsPregnancy MultiplebusinessThe Journal of Maternal-Fetal & Neonatal Medicine
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Molecular Analysis of the Androgen Receptor Gene in 52 Patients with Complete or Partial Androgen Insensitivity Syndrome: A Collaborative Study

1992

In patients with androgen insensitivity syndrome (AIS), RFLP study of the androgen receptor gene made it possible to analyze whether deletions or mutations could be responsible for abnormalities in androgen responsiveness. We studied RFLPs of DNA from 25 46,XY patients with partial AIS (PAIS), defined as a concentration of androgen receptor in genital-skin fibroblasts less than 340 fmol/mg DNA, and DNA from 27 46,XY patients with complete AIS (CAIS) with no detectable androgen receptor site. DNA samples were digested with BamHI, EcoRI, HindIII and TaqI restriction enzymes and hybridized with three cDNA probes covering the three domains of the androgen receptor. When we had the maternal and …

medicine.medical_specialtyX Chromosomemedicine.drug_classEndocrinology Diabetes and MetabolismMolecular Sequence DataDeoxyribonuclease HindIIIBiologyurologic and male genital diseasesPolymerase Chain Reactionchemistry.chemical_compoundEndocrinologyInternal medicinemedicineHumansPartial androgen insensitivity syndromeGeneSex Chromosome AberrationsBase SequenceAndrogen Receptor GeneDNASyndromeMetribolonemedicine.diseaseAndrogenMolecular analysisEndocrinologychemistryReceptors AndrogenMutationAndrogensAndrogen insensitivity syndromeRestriction fragment length polymorphismPolymorphism Restriction Fragment LengthDNAHormone Research
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Neonatal Respiratory Insufficiency Caused by an (Homozygous) ABCA3-Stop Mutation: a Systematic Evaluation of Therapeutic Options

2014

Background Autosomal recessive ABCA3 (ATP-binding cassette protein A3) gene mutations have been associated with neonatal respiratory distress and pediatric interstitial lung disease. The clinical course of the disease depends on the underlying mutations. Therefore, knowledge of course, symptoms and treatment of the disease is important. Patient and methods A term newborn suffered from progressive respiratory insufficiency, which led to death at the age of 4.8 months. The girl developed interstitial lung disease. Infections as well as structural and functional disorders of the lung were systematically excluded. A homozygous c.4681C > T (Arg 1561 Stop) mutation of the ABCA3 gene was identifie…

medicine.medical_specialtymedicine.medical_treatmentGenes RecessiveDiseaseGene mutationABCA3Fatal OutcomeAdrenal Cortex HormonesInternal medicinemedicineHumansLung transplantationTreatment FailureIntensive care medicineChromosome AberrationsRespiratory Distress Syndrome NewbornLungbiologybusiness.industryHomozygoteInfant NewbornInterstitial lung diseaseInfantHydroxychloroquinemedicine.diseasePathophysiologymedicine.anatomical_structureMutationPediatrics Perinatology and Child HealthCodon Terminatorbiology.proteinATP-Binding Cassette TransportersFemaleMacrolidesLung Diseases InterstitialRespiratory InsufficiencybusinessHydroxychloroquinemedicine.drugKlinische Pädiatrie
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Transfection of lipoma cells with papilloma bovine virus subgenomic fragment.

1991

Abstract Lipoma cells with consistent chromosomal aberration have been transfected with plasmids carrying papilloma bovine virus subgenomic fragment (PBV 69). The succesful transformation of the cells was ascerted on the changed growth pattern of the cells in liquid medium, colony formation in soft agar and modified cell appearrance in electron microscopy; transfection with PBV 69 has not been, however, sufficient to immortalize lipoma cells.

virusesCellEndoplasmic ReticulumTransfectionVirusPlasmidotorhinolaryngologic diseasesmedicineTumor Cells CulturedHumansBovine papillomavirusSubgenomic mRNABovine papillomavirus 1Cell Line TransformedChromosome AberrationsbiologyMusclesCell DifferentiationCell BiologyTransfectionFibroblastsbiology.organism_classificationmedicine.diseaseCell Transformation ViralVirologyClone CellsMicroscopy Electronmedicine.anatomical_structureAdipose TissueCell culturePapillomaLipomaCell DivisionCell biology international reports
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