Search results for "Hybridization"

showing 10 items of 812 documents

Outbreak of urogenital schistosomiasis in Corsica (France): an epidemiological case study

2016

Summary Background Schistosomiasis is a snail-borne parasitic disease endemic in several tropical and subtropical countries. However, in the summer of 2013, an unexpected outbreak of urogenital schistosomiasis occurred in Corsica, with more than 120 local people or tourists infected. We used a multidisciplinary approach to investigate the epidemiology of urogenital schistosomiasis in Corsica, aiming to elucidate the origin of the outbreak. Methods We did parasitological and malacological surveys at nine potential sites of infection. With the snails found, we carried out snail–parasite compatibility experiments by exposing snails to schistosome larvae recovered from the urine of a locally in…

0301 basic medicineBulinusBulinus truncatus030231 tropical medicineSnailsZoologySchistosomiasis[SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and NephrologyDisease Outbreaks03 medical and health sciencesFecesSchistosomiasis haematobia0302 clinical medicine[SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseasesparasitic diseasesmedicineHelminthsAnimalsHumansBulinusSchistosomaSchistosoma haematobium[SDV.MHEP.ME]Life Sciences [q-bio]/Human health and pathology/Emerging diseasesMolecular epidemiologybiologyEcology[SDV.BID.EVO]Life Sciences [q-bio]/Biodiversity/Populations and Evolution [q-bio.PE]Outbreakmedicine.diseasebiology.organism_classificationSenegal3. Good healthEpidemiologic Studies030104 developmental biologyInfectious DiseasesSchistosoma haematobiumHybridization Genetic[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologieFrance
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Spontaneous and Radiation-Induced Chromosome Aberrations in Primary Fibroblasts of Patients With Pediatric First and Second Neoplasms

2020

Frontiers in oncology 10, 1338 (2020). doi:10.3389/fonc.2020.01338

0301 basic medicineCancer ResearchDNA repairSomatic cell610Chromosomal translocationlcsh:RC254-28203 medical and health sciences0302 clinical medicineRadiation sensitivityChromosome instabilitymedicinechildhood cancerddc:610spontaneous chromosomal instabilityOriginal Researchmedicine.diagnostic_testbusiness.industryChromosomeradiation sensitivitysecond primary malignancieslcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensPrimary Neoplasm030104 developmental biologychromosome aberrationsOncology030220 oncology & carcinogenesisCancer researchbusinessionizing radiationSecond primary malignancies ; Radiation sensitivity ; Chromosome aberrations ; Childhood cancer ; Spontaneous chromosomal instability ; Ionizing radiationFluorescence in situ hybridization
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Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.

2017

Interpretation of variants of uncertain significance, especially chromosomal rearrangements in non-coding regions of the human genome, remains one of the biggest challenges in modern molecular diagnosis. To improve our understanding and interpretation of such variants, we used high-resolution three-dimensional chromosomal structural data and transcriptional regulatory information to predict position effects and their association with pathogenic phenotypes in 17 subjects with apparently balanced chromosomal abnormalities. We found that the rearrangements predict disruption of long-range chromatin interactions between several enhancers and genes whose annotated clinical features are strongly …

0301 basic medicineCandidate genediagnosis030105 genetics & heredityMedical and Health SciencescytogeneticsTranslocation Geneticchromosomal translocationChromosome Breakpointschromatin conformationbalanced chromosomal rearrangement2.1 Biological and endogenous factorsChromosomes HumanGenetics(clinical)AetiologyGenetics (clinical)In Situ HybridizationIn Situ Hybridization Fluorescencelong-range effectGeneticsGenetics & HeredityGene RearrangementGenomeChromosome MappingBiological SciencesChromatinPosition effectPhenotypeMedical geneticsHPOHumandistal effectmedicine.medical_specialtyChromosome engineeringchromosomal rearrangement/dk/atira/pure/subjectarea/asjc/1300/1311KaryotypeTranslocationChromosomal rearrangementBiologyChromosomesFluorescenceArticleChromosomal Position Effects03 medical and health sciencesGeneticClinical ResearchmedicineGeneticsHumansGenetic Predisposition to DiseaseGeneGenome HumanHuman GenomeGenetic Variation/dk/atira/pure/subjectarea/asjc/2700/2716030104 developmental biologyGene Expression RegulationHuman genomeclinical geneticsAmerican journal of human genetics
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In the ovary of Ciona intestinalis (Type A), immune-related galectin and phenoloxidase genes are differentially expressed by the follicle accessory c…

2017

Abstract Riboprobes (in situ hybridization) and antibodies (immunohistochemistry), previously used to show the upregulation of Ciona intestinalis (Type A) galectins (CiLgals-a, CiLgals-b) and phenoloxidase (CinPO2) immune-related genes, were tested on histological sections of the ovary. The ovarian follicles are composed of oocytes encased by follicular cells (FCs) and test cells (TCs). Results show the transcription upregulation of both CiLgals and CinPO2 genes in the vitellogenic FCs, conversely distinct cytolocalization of the proteins are shown. At vitellogenic stage, the CiLgals are localized in the FCs, in the oocyte cytoplasm, and close to the germinal vesicle (GV), whereas the CinPO…

0301 basic medicineCiona intestinaliGalectinsIn situ hybridizationAquatic ScienceOogenesis03 medical and health sciencesAccessory cellmedicineAnimalsEnvironmental ChemistryCiona intestinalisOvarian follicleGalectinNucleoplasmGerminal vesicle030102 biochemistry & molecular biologybiologyMonophenol MonooxygenaseGene Expression ProfilingOvaryAccessory cells; Ciona intestinalis; Galectins; Ovary; PhenoloxidaseRiboprobeGeneral Medicinebiology.organism_classificationImmunity InnateCiona intestinalisCell biology030104 developmental biologymedicine.anatomical_structureGene Expression RegulationGenesPhenoloxidaseGalectinFemaleFish & Shellfish Immunology
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Rescuing monopronucleated-derived human blastocysts: a model to study chromosomal topography and fingerprinting.

2021

Objective To quantify the percentage of monopronuclear-derived blastocysts (MNBs) that are potentially useful for reproductive purposes using classic and state-of-the-art chromosome analysis approaches, and to study chromosomal distribution in the inner cell mass (ICM) and trophectoderm (TE) for intertissue/intratissue concordance comparison. Design Prospective experimental study. Setting Single-center in vitro fertilization clinic and reproductive genetics laboratory. Patient(s) A total of 1,128 monopronuclear zygotes were obtained between June 2016 and December 2018. Intervention(s) MNBs were whole-fixed or biopsied to obtain a portion of ICM and 2 TE portions (TE1 and TE2) and were subse…

0301 basic medicineConcordanceBiopsyBiologyPolymorphism Single NucleotideChromosomesAndrology03 medical and health sciences0302 clinical medicinemedicineInner cell massHumansProspective StudiesIn Situ Hybridization FluorescenceGenetic testing030219 obstetrics & reproductive medicineZygotePloidiesmedicine.diagnostic_testObstetrics and GynecologyChromosomeHigh-Throughput Nucleotide SequencingEmbryoDNA Fingerprinting030104 developmental biologyBlastocystReproductive MedicineBlastocyst Inner Cell MassFemalePloidyFluorescence in situ hybridizationFertility and sterility
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Easy One-Step Amplification and Labeling Procedure for Copy Number Variation Detection.

2019

Abstract Background The specific characteristics of copy number variations (CNVs) require specific methods of detection and characterization. We developed the Easy One-Step Amplification and Labeling procedure for CNV detection (EOSAL-CNV), a new method based on proportional amplification and labeling of amplicons in 1 PCR. Methods We used tailed primers for specific amplification and a pair of labeling probes (only 1 labeled) for amplification and labeling of all amplicons in just 1 reaction. Products were loaded directly onto a capillary DNA sequencer for fragment sizing and quantification. Data obtained could be analyzed by Microsoft Excel spreadsheet or EOSAL-CNV analysis software. We d…

0301 basic medicineDNA Copy Number VariationsClinical BiochemistryComputational biologyPolymerase Chain Reaction03 medical and health sciences0302 clinical medicineHumansMultiplexMultiplex ligation-dependent probe amplificationCopy-number variationIn Situ Hybridization FluorescenceFluorescent DyesChemistryBiochemistry (medical)Sequence Analysis DNAAmpliconChromosome 17 (human)MSH6DNA sequencer030104 developmental biologyReceptors LDLMSH2030220 oncology & carcinogenesisDNA ProbesMultiplex Polymerase Chain ReactionClinical chemistry
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Photobacterium toruni sp. nov., a bacterium isolated from diseased farmed fish.

2017

Three bacterial strains were isolated from liver and spleen of diseased farmed redbanded seabream (Pagrus auriga) in south-west Spain. Their partial 16S rRNA gene sequences clustered within those of the genus Photobacterium , showing high similarity (98.6–99.3 %) to the type strains of Photobacterium iliopiscarium , P. piscicola , P. kishitanii , P. aquimaris and P. phosphoreum . Multilocus sequence analysis using six housekeeping genes (gapA, topA, mreB, ftsZ, gyrB and 16S rRNA) confirmed the new strains as forming an independent branch with a bootstrap value of 100, likely to represent a novel species. To confirm this, we used whole genome sequencing and genomic analysis (ANIb, ANIm and i…

0301 basic medicineDNA BacterialBacilliSequence analysisMicrobiologyMicrobiology03 medical and health sciencesVibrionaceaeRNA Ribosomal 16SAnimalsGeneEcology Evolution Behavior and SystematicsPhospholipidsPhylogenyWhole genome sequencingGeneticsBase CompositionbiologyPhotobacteriumFatty AcidsNucleic Acid HybridizationVitamin K 2General MedicineSequence Analysis DNA16S ribosomal RNAbiology.organism_classificationPhotobacteriumSea BreamHousekeeping geneBacterial Typing Techniques030104 developmental biologyGenes BacterialSpainMultilocus Sequence TypingInternational journal of systematic and evolutionary microbiology
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Ruegeria denitrificans sp. nov., a marine bacterium in the family Rhodobacteraceae with the potential ability for cyanophycin synthesis.

2018

Strain CECT 5091T, an aerobic, marine, Gram-reaction- and Gram-stain-negative, chemoheterotrophic bacterium was isolated from oysters harvested off the Spanish Mediterranean coast. Analysis of the 16S rRNA gene sequence placed the strain within the genus Ruegeria , in the family Rhodobacteraceae , with 16S rRNA gene similarities of 98.7, 98.7 and 98.4 % to Ruegeria conchae , Ruegeria atlantica and Ruegeria arenilitoris , respectively. Average nucleotide identities (ANI) and in silico DNA–DNA hybridization (DDH) were determined, comparing the genome sequence of CECT 5091T with those of the type strains of 12 species of the genus Ruegeria : the values obtained were always below the thresholds…

0301 basic medicineDNA BacterialCyanophycinRuegeriaMicrobiology03 medical and health scienceschemistry.chemical_compoundMarine bacteriophageBacterial ProteinsRNA Ribosomal 16SMediterranean SeaAnimalsRhodobacteraceaeRhodobacteraceaeMagnesium ionEcology Evolution Behavior and SystematicsPhylogenyBase CompositionbiologyFatty AcidsNucleic Acid HybridizationGeneral MedicineSequence Analysis DNA16S ribosomal RNAbiology.organism_classificationOstreidaeHalophileBacterial Typing Techniques030104 developmental biologyBiochemistrychemistrySpainBacteriaInternational journal of systematic and evolutionary microbiology
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Marinomonas spartinae sp. nov., a novel species with plant-beneficial properties.

2016

Two strains of Gram-stain-negative, chemo-organotrophic, aerobic and halophilic gammaproteobacteria, isolated from within the stem and roots of Spartina maritima in salt marshes from the south Atlantic Spanish coast, were found to represent a novel species in the genus Marinomonas through phylogenetic analysis of their 16S rRNA genes and phenotypic characterization. 16S rRNA gene sequences of the two strains shared < 96.2 % similarity with other Marinomonas species, with Marimonas alcarazii being the most similar in sequence. They required sodium ions for growth, were able to thrive at low (4 °C) temperatures and at salinities of 12–15 %, were unable to hydrolyse any tested macromolecule ex…

0301 basic medicineDNA BacterialMarinomonasMolecular Sequence DataBiologyPoaceaeMicrobiologyPlant Roots03 medical and health sciencesRNA Ribosomal 16SGammaproteobacteriaBotanyEndophytesSugarMarinomonasEcology Evolution Behavior and SystematicsPhylogenychemistry.chemical_classificationBase CompositionPhylogenetic treePlant StemsFatty AcidsNucleic Acid HybridizationGeneral MedicineSequence Analysis DNA16S ribosomal RNAbiology.organism_classificationHalophileAmino acidBacterial Typing Techniques030104 developmental biologychemistrySpainWetlandslipids (amino acids peptides and proteins)Spartina maritimaInternational journal of systematic and evolutionary microbiology
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Identification of novel drug resistance mechanisms by genomic and transcriptomic profiling of glioblastoma cells with mutation-activated EGFR.

2021

Abstract Aims Epidermal growth factor receptor (EGFR) is not only involved in carcinogenesis, but also in chemoresistance. We characterized U87.MGΔEGFR glioblastoma cells with constitutively active EGFR due to deletion at the ligand binding domain in terms of gene expression profiling and chromosomal aberrations. Wild-type U87.MG cells served as control. Materials and methods RNA sequencing and network analyses (Ingenuity Pathway Analysis) were performed to identify novel drug resistance mechanisms related to expression of mutation activated EGFR. Chromosomal aberrations were characterized by multicolor fluorescence in situ hybridization (mFISH) and array comparative genomic hybridization (…

0301 basic medicineDown-RegulationBiologymedicine.disease_cause030226 pharmacology & pharmacyGeneral Biochemistry Genetics and Molecular BiologyTranscriptome03 medical and health sciences0302 clinical medicineCell Line TumormedicineHumansGene Regulatory NetworksProtein Interaction MapsGeneral Pharmacology Toxicology and PharmaceuticsGeneTranscription factorMetaphaseChromosome AberrationsMutationmedicine.diagnostic_testBrain NeoplasmsGene Expression ProfilingGeneral MedicineGenomicsUp-RegulationGene expression profilingErbB ReceptorsGene Expression Regulation Neoplastic030104 developmental biologyDrug Resistance NeoplasmMutationCancer researchCarcinogenesisGlioblastomaTranscriptomeComparative genomic hybridizationFluorescence in situ hybridizationSignal TransductionLife sciences
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