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showing 10 items of 216 documents

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

2016

International audience; The increasing use of array-CGH in malformation syndromes with intellectual disability could lead to the description of new contiguous gene syndrome by the analysis of the gene content of the microdeletion and reverse phenotyping. Thanks to a national and international call for collaboration by Achropuce and Decipher, we recruited four patients carrying de novo overlapping deletions of chromosome 9q33.3q34.11, including the STXBP1, the LMX1B and the ENG genes. We restrained the selection to these three genes because the effects of their haploinsufficency are well described in the literature and easily recognizable clinically. All deletions were detected by array-CGH …

0301 basic medicineMale[ SDV.MHEP.PED ] Life Sciences [q-bio]/Human health and pathology/PediatricsHaploinsufficiencycerebral hypomyelinationwest-syndromeBioinformaticsCraniofacial Abnormalities0302 clinical medicineIntellectual disabilitySTXBP1ChildGenetics (clinical)Nail patella syndromeGeneticsEndoglinSyndrome3. Good healthdevelopmental delayPhenotypeintellectual disabilityMedical geneticsFemaleChromosome DeletionHaploinsufficiencyChromosomes Human Pair 9medicine.medical_specialtyAdolescentLIM-Homeodomain ProteinsBiologyContiguous gene syndromeArticle03 medical and health sciencesMunc18 ProteinsGenetic linkageGeneticsmedicineHumansde-novo mutations[SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/PediatricsdiseaseEpilepsyinfantile epileptic encephalopathyassociationdeletionsmedicine.diseaseHuman genetics030104 developmental biologynail-patella syndrome030217 neurology & neurosurgeryTranscription Factors
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Chronic myelogenous leukaemia exosomes modulate bone marrow microenvironment through activation of epidermal growth factor receptor

2016

Abstract Chronic myelogenous leukaemia (CML) is a clonal myeloproliferative disorder. Recent evidence indicates that altered crosstalk between CML and mesenchymal stromal cells may affect leukaemia survival; moreover, vesicles released by both tumour and non‐tumour cells into the microenvironment provide a suitable niche for cancer cell growth and survival. We previously demonstrated that leukaemic and stromal cells establish an exosome‐mediated bidirectional crosstalk leading to the production of IL8 in stromal cells, thus sustaining the survival of CML cells. Human cell lines used are LAMA84 (CML cells), HS5 (stromal cells) and bone marrow primary stromal cells; gene expression and protei…

0301 basic medicineStromal cellchronic myeloid leukaemiaEGFRBone Marrow CellsexosomesBiologyInterleukin 8AmphiregulinBone Marrow Stromal Cell03 medical and health sciencesAmphiregulinSettore BIO/13 - Biologia Applicatahemic and lymphatic diseasesCell Line TumorLeukemia Myelogenous Chronic BCR-ABL PositivemedicineCell AdhesionHumansInterleukin 8Epidermal growth factor receptorRNA MessengerPhosphorylationRNA Small InterferingAnnexin A2SNAILMesenchymal stem cellInterleukin-8Cell BiologyOriginal ArticlesMicrovesiclesCell biologyErbB Receptors030104 developmental biologymedicine.anatomical_structureCellular MicroenvironmentMatrix Metalloproteinase 9Cancer cellChronic Myelogenous Leukemia Exosomes; Interleukin 8; Bone Marrow Stromal Cells; EGFRbiology.proteinMolecular MedicineOriginal ArticleBone marrowSnail Family Transcription FactorsChronic Myelogenous Leukemia ExosomeStromal Cellsepidermal growth factor receptor
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GDF11 exhibits tumor suppressive properties in hepatocellular carcinoma cells by restricting clonal expansion and invasion.

2019

Growth differentiation factor 11 (GDF11) has been characterized as a key regulator of differentiation in cells that retain stemness features, despite some controversies in age-related studies. GDF11 has been poorly investigated in cancer, particularly in those with stemness capacity, such as hepatocellular carcinoma (HCC), one of the most aggressive cancers worldwide. Here, we focused on investigating the effects of GDF11 in liver cancer cells. GDF11 treatment significantly reduced proliferation, colony and spheroid formation in HCC cell lines. Consistently, down-regulation of CDK6, cyclin D1, cyclin A, and concomitant upregulation of p27 was observed after 24 h of treatment. Interestingly,…

0301 basic medicine[SDV]Life Sciences [q-bio]Cyclin ACellChick EmbryoChorioallantoic Membrane0302 clinical medicineCell MovementCyclin D1HCCbiologyNeovascularization PathologicCell DifferentiationHep G2 CellsCell cycleCadherinsHuh7 cells3. Good health[SDV] Life Sciences [q-bio]Gene Expression Regulation NeoplasticGrowth Differentiation Factorsmedicine.anatomical_structure030220 oncology & carcinogenesisBone Morphogenetic ProteinsMolecular MedicineLiver cancerCyclin-Dependent Kinase Inhibitor p27Signal Transduction[SDV.CAN]Life Sciences [q-bio]/CancerCyclin ACell cycleHep3B cells03 medical and health sciencesCyclin D1Downregulation and upregulation[SDV.CAN] Life Sciences [q-bio]/CancerAntigens CDCell Line TumorOccludinSpheroids CellularmedicineAnimalsHumansViability assayMolecular BiologyCell Proliferation[SDV.MHEP.HEG]Life Sciences [q-bio]/Human health and pathology/Hépatology and GastroenterologyCyclin-Dependent Kinase 6[SDV.MHEP.HEG] Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology030104 developmental biologyCell cultureGDF11biology.proteinCancer researchCyclin-dependent kinase 6Snail Family Transcription FactorsBiochimica et biophysica acta. Molecular basis of disease
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Trematode cercariae as prey for zooplankton: effect on fitness traits of predators.

2019

AbstractRemoval of parasite free-living stages by predators has previously been suggested an important factor controlling parasite transmission in aquatic habitats. Experimental studies of zooplankton predation on macroparasite larvae are, however, scarce. We tested whether trematode cercariae, which are often numerous in shallow waters, are suitable prey for syntopic zooplankters. Feeding rates and survival of freshwater cyclopoids (Megacyclops viridis, Macrocyclops distinctus), calanoids (Arctodiaptomus paulseni), cladocerans (Sida crystallina) and rotifers Asplanchna spp., fed with cercariae of Diplostomum pseudospathaceum, a common fish trematode, were studied. In additional long-term e…

0301 basic medicinecopepodsSnailsRotiferareproduktioPredation0302 clinical medicineeye flukerataseläimetloisetCercariaTrophic levelLarvafood webbiologyparasite transmissionplanktonvesiekosysteemit030108 mycology & parasitologyFood webDiplostomumInfectious DiseaseshankajalkaisetTrematodaArctodiaptomusFood Chain030231 tropical medicineCladoceransZoologyZooplanktonZooplanktonfreshwater ecosystemrotifersCopepodatoukat03 medical and health sciencesAnimalsAnalysis of VarianceimumadotAquatic animalbiology.organism_classificationmortalityPredatory Behaviorvesikirputta1181MacroparasiteAnimal Science and ZoologyParasitologyravintoverkotParasitology
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Electromagnetic distal targeting system does not reduce the overall operative time of the intramedullary nailing for humeral shaft fractures

2018

Abstract Introduction We aimed to evaluate the efficacy of the use of the electromagnetic distal targeting system in treating humeral shaft fracture. Methods Patients were divided in: Group 1) patients that received a distal locking screw placement following the free-hand technique; Group 2) patients in which the distal locking screw was performed using the SURESHOT device. Results No differences were noted comparing Group 1 (freehand) [71,9 range 40–135 min] to Group 2 (SURESHOT)[70, range 25–125 min]. Conclusion The use of the EM distal targeting system doesn't reduce the overall operative time of the humeral shaft fracture fixation using IMN.

030222 orthopedicsmedicine.medical_specialtybusiness.industrysureshot030208 emergency & critical care medicineHumeral shaft fractureArticleScrew nailScrew placementSurgerylaw.inventionHumeral nailIntramedullary rod03 medical and health sciences0302 clinical medicineLocking naillawFracture fixationHumeral shaftmedicineOperative timeOrthopedics and Sports MedicinebusinessJournal of Orthopaedics
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Furcocercous cercariae (Trematoda) from freshwater snails in Central Finland

2007

AbstractA total of eight species of furcocercous cercariae of four families (Strigeidae, Diplostomidae, Schistosomatidae and Sanguinicolidae), were found in 2005 in Lake Konnevesi in Central Finland in four snail species (Valvata macrostoma, Lymnaea stagnalis, Bathyomphalus contortus and Planorbarius corneus). Australapatemon burti (Miller, 1923), Australapatemon sp., Cotylurus brevis Dubois et Rausch, 1950, Cercaria spinulosa Ginetsinskaya, 1959 and Sanguinicola sp. are new species records for Finland. Ichthyocotylurus variegatus (Creplin, 1825) and Bilharziella polonica (Kowalewski, 1895) were first recorded as cercariae in Finland. The most common cercariae were A. burti (prevalence 13.3…

0303 health sciencesPlanorbarius corneusbiologyEcology030231 tropical medicineProsobranchiaValvata macrostomaZoologyHealth sciencesLymnaea stagnalis:Health sciences [Medical and Health sciences]biology.organism_classificationPulmonata6. Clean waterFreshwater snail030308 mycology & parasitology:Ciências da saúde [Ciências médicas e da saúde]03 medical and health sciences0302 clinical medicineBathyomphalus contortusParasitology14. Life underwaterTrematodaCiências da saúde
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2019

Global changes promote the spread of infectious diseases worldwide. In this context, tropical urogenital schistosomiasis is now permanently established in Corsica since its first emergence in 2013. The local persistence of the tropical pathogens (schistosomes) responsible for urogenital schistosomiasis at such latitudes might be explained by (i) the presence of its intermediate host, the snail Bulinus truncatus, (ii) the recurrent local reseeding of schistosomes by their vertebrate hosts (either human or animal) every summer, and/or (iii) the maintenance and survival of schistosomes within their snail hosts over winter. In this study we conducted an ecological experiment to assess the abili…

2. Zero hunger0301 basic medicineBulinus truncatus030231 tropical medicineIntermediate hostZoologyTropical diseaseContext (language use)SnailBiologybiology.organism_classificationmedicine.disease03 medical and health sciences030104 developmental biology0302 clinical medicineInfectious Diseasesbiology.animalTemperate climatemedicineHelminthsParasitologyFreshwater molluscParasites & Vectors
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The transcription factor ZEB1 (deltaEF1) promotes tumour cell dedifferentiation by repressing master regulators of epithelial polarity.

2007

Epithelial to mesenchymal transition (EMT) is implicated in the progression of primary tumours towards metastasis and is likely caused by a pathological activation of transcription factors regulating EMT in embryonic development. To analyse EMT-causing pathways in tumouri-genesis, we identified transcriptional targets of the E-cadherin repressor ZEB1 in invasive human cancer cells. We show that ZEB1 repressed multiple key determinants of epithelial differentiation and cell–cell adhesion, including the cell polarity genes Crumbs3, HUGL2 and Pals1-associated tight junction protein. ZEB1 associated with their endogenous promoters in vivo, and strongly repressed promotor activities in reporter …

AdultCancer ResearchChromatin ImmunoprecipitationCellular differentiationImmunoblottingDown-RegulationBreast NeoplasmsBiologymedicine.disease_causeEpitheliumArticleCell polarityGeneticsmedicineTumor Cells CulturedHumansNeoplasm InvasivenessEpithelial–mesenchymal transitionCell adhesionPromoter Regions GeneticMolecular BiologyTranscription factorEpithelial polarityAgedOligonucleotide Array Sequence AnalysisHomeodomain ProteinsMembrane GlycoproteinsReverse Transcriptase Polymerase Chain ReactionGene Expression ProfilingCell PolarityMembrane ProteinsZinc Finger E-box-Binding Homeobox 1Cell DifferentiationMiddle AgedCadherinsCytoskeletal ProteinsMicroscopy FluorescenceCancer cellColonic NeoplasmsCancer researchDisease ProgressionSnail Family Transcription FactorsCarcinogenesisNucleoside-Phosphate KinaseTranscription FactorsOncogene
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An evaluation of clinical, radiological and three-dimensional dental tomography findings in ectodermal dysplasia cases

2015

Background:This study aimed to review the results related to head and jaw disorders in cases of ectodermal dysplasia. The evaluation of ectodermal dysplasia cases was made by clincal examination and examination of the jaw and facial areas radiologically and on cone-beam 3-dimensional dental tomography (CBCT) images. Material and Methods: In the 36 cases evaluated in the study, typical clinical findings of pure hypohidrotic ectodermal displasia (HED) were seen, such as missing teeth, dry skin, hair and nail disorders. CBCT images were obtained from 12 of the 36 cases, aged 1.5- 45 years, and orthodontic analyses were made on these images. Results: The clinical and radiological evaluations de…

AdultMaleEctodermal dysplasiaAdolescentSaddle noseTooth resorptionDentistryOdontologíaEctodermal dysplasiaOligodontiathree-dimensional dental tomographyYoung AdultGingivitisImaging Three-Dimensionalstomatognathic systemmedicineHumansChildGeneral DentistryRetrospective StudiesEctodermal dysplasia three-dimensional dental tomographyHypopigmentationbusiness.industryResearchStomatognathic DiseasesInfantCone-Beam Computed TomographyMiddle AgedMedically compromised patients in Dentistry:CIENCIAS MÉDICAS [UNESCO]medicine.diseaseCiencias de la saludstomatognathic diseasesHypodontiamedicine.anatomical_structureOtorhinolaryngologyChild PreschoolUNESCO::CIENCIAS MÉDICASNail (anatomy)FemaleSurgerymedicine.symptombusinessMedicina Oral Patología Oral y Cirugia Bucal
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Exposure to toxic agents alters organic elemental composition in human fingernails.

2008

Abstract Background and objective: The human fingernail plate is highly keratinized. The keratin structure is held together by disulfide bonds. The organic elements sulfur and nitrogen occur almost exclusively in amino acids of the nail plate. This study analyzed whether occupational exposure to harmful chemical agents alters the organic elemental composition in fingernails. Subjects and methods: Participants were 71 occupationally exposed workers (49 hairdressers, 22 painters) and 49 unexposed controls. Aspects of exposure were assessed by questionnaire. Nail clippings of index and little fingers were analyzed for sulfur (S), nitrogen (N), carbon (C), and hydrogen (H) contents, using an au…

AdultMaleEnvironmental EngineeringChemical compoundStereochemistryNitrogenHair Preparationschemistry.chemical_elementchemistry.chemical_compoundSex FactorsOccupational ExposurePaintmedicineEnvironmental ChemistryHumansWaste Management and DisposalDiminutionElemental compositionintegumentary systemChemistryNail plateMiddle AgedPollutionNitrogenSulfurCarbonmedicine.anatomical_structureNailsEnvironmental chemistryNail (anatomy)FemaleOccupational exposureSulfurHydrogenThe Science of the total environment
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