Search results for "DELE"

showing 10 items of 631 documents

Mosaic particles formed by wild-type hepatitis B virus core protein and its deletion variants consist of both homo- and heterodimers.

2003

AbstractCo-expression in Escherichia coli of wild-type (wt) hepatitis B virus core protein (HBc) and its naturally occurring variants with deletions at amino acid positions 77–93 or 86–93 leads to formation of mosaic particles, which consist of three dimer subunit compositions. These compositions are wt/variant HBc heterodimers and two types of homodimers, formed by wt HBc or the variant HBc themselves. Mosaic particles were found also when both HBc deletion variants 77–93 and 86–93 were co-expressed in E. coli. These findings are discussed in terms of their significance for hepatitis B virus pathogenesis and prospective use of mosaic particles in vaccine development.

Hepatitis B virusvirusesProtein subunitDimerBiophysicsExpressionPlasma protein bindingBiologymedicine.disease_causeMosaic particlesBiochemistrychemistry.chemical_compoundHepatitis B virus core proteinProtein structureStructural Biologyparasitic diseasesGeneticsmedicineHepatitis B VaccinesCloning MolecularProtein Structure QuaternaryMolecular BiologyEscherichia coliSequence Deletionchemistry.chemical_classificationHepatitis B virusViral Core ProteinsWild typevirus diseasesGenetic VariationCell BiologyHepatitis BDimer formationVirologyMolecular biologydigestive system diseasesAmino acidProtein SubunitschemistryDimerizationProtein BindingFEBS letters
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Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence

2016

The chromosome bands 15q24.1-15q24.3 contain a complex region with numerous segmental duplications that predispose to regional microduplications and microdeletions, both of which have been linked to intellectual disability, speech delay and autistic features. The region may also harbour common inversion polymorphisms whose functional and phenotypic manifestations are unknown. Using single nucleotide polymorphism (SNP) data, we detected four large contiguous haplotype-genotypes at 15q24 with Mendelian inheritance in 2,562 trios, African origin, high population stratification and reduced recombination rates. Although the haplotype-genotypes have been most likely generated by decreased or abse…

HeredityAutism Spectrum DisorderIntelligenceSocial SciencesChromosome DisordersMAN2C1 geneFamiliesMicePsychologylcsh:ScienceChildChildrenIn Situ HybridizationCognitive ImpairmentIntelligence Testseducation.field_of_studyIntelligence quotientBrainGenomicsNeurologyChromosome DeletionHumanGenotypeEvolutionSingle-nucleotide polymorphismFluorescenceEvolution Molecular03 medical and health sciencesalpha-MannosidaseIntellectual DisabilityMannosidasesGeneticsChromosome 15q24 2HumansPolymorphismeducationChromosome Aberrationslcsh:RHaplotypePair 15PongoBiology and Life SciencesComputational BiologyMolecularmedicine.diseaseIntellectual Disability/genetics030104 developmental biologyNeurodevelopmental DisordersDevelopmental PsychologyAfricalcsh:QPopulation GroupingsGene expressionEthiopiaAutismePopulation GeneticsNeuroscience0301 basic medicineAutismlcsh:MedicineGene ExpressionHomozygosityGeographical LocationsCohort StudiesChromosome Disorders/geneticsIntellectual disabilityMedicine and Health SciencesIn Situ Hybridization FluorescenceSegmental duplicationMannosidases/geneticsGeneticsMultidisciplinaryGenomeCognitive NeurologyHomozygoteSingle NucleotidePhenotypesymbolsInfantsResearch ArticleCognitive NeurosciencePopulationInfants -- DesenvolupamentBiologyPolymorphism Single NucleotideChromosomessymbols.namesakeDevelopmental NeurosciencemedicineAnimalsBrain/metabolismCromosomes humans -- AnomaliesAlleleChromosomes Human Pair 15Evolutionary BiologyPopulation BiologyGenome HumanChromosome 15qIntelligence/geneticsGenome AnalysisGenomic LibrariesExpressió gènicaMacaca mulattaRatsHaplotypesAge GroupsPeople and PlacesMendelian inheritanceCognitive Science
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Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein…

2013

Rubinstein-Taybi syndrome is a rare autosomal dominant congenital disorder characterized by postnatal growth retardation, psychomotor developmental delay, skeletal anomalies, peculiar facial morphology, and tumorigenesis. Mutations in the gene encoding the cAMP response element-binding protein (CREB, also known as CREBBP or CBP) on chromosome 16p13.3 have been identified. In addition, some patients with low intelligence quotients and autistic features bear large deletions. Based on these observations, we used multiplex ligation-dependent probe amplification to search for large deletions affecting the CREBBP gene in a Rubinstein-Taybi syndrome patient. We identified a novel heterozygote dele…

HeterozygoteCREBExonSettore BIO/13 - Biologia ApplicataGeneticsmedicineHumansMultiplexMultiplex ligation-dependent probe amplificationGenetic TestingCREB-binding proteinMolecular BiologyGeneGeneticsRubinstein-Taybi SyndromeRubinstein–Taybi syndromebiologyMultiplex ligation-dependent probe amplification Comparative multiplex dosage analysis CREB-binding protein Rubinstein-Taybi syndromeHeterozygote advantageGeneral Medicinemedicine.diseaseMolecular biologyCREB-Binding ProteinChild Preschoolbiology.proteinFemaleMultiplex Polymerase Chain ReactionGene Deletion
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Loss of heterozygosity at the short arm of chromosome 3 in renal‐cell cancer correlates with the cytological tumour type

1993

A majority of renal-cell tumours retain heterozygosity at the short arm of chromosome 3. To investigate possible histopathological differences between tumours with and without such losses, we compared loss of heterozygosity data from 51 tumours with 1 histological and 2 different cytological classifications of renal-cell tumour. Using the cytological classification of Thoenes et al., we only found tumours with loss of heterozygosity in these authors' clear-cell category. Possibly, only these tumours arise by a mechanism of double loss of a tumour-suppressor gene on 3p, non-clear-cell renal tumours having a different genetic background. Alternatively, deletions may occur in all subtypes, in …

HeterozygoteCancer Researchmedicine.medical_specialtyPathologyMitotic crossoverCARCINOMAChromosome DisordersBiologyMOLECULAR ANALYSISLoss of heterozygosityGene duplicationmedicineHumansCarcinoma Renal CellSequence DeletionChromosome AberrationsDELETIONBreakpointCytogeneticsChromosomeCYTOGENETICSKidney NeoplasmsOncologyChromosome 3Clear cell carcinomaChromosomes Human Pair 3Polymorphism Restriction Fragment LengthInternational Journal of Cancer
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p16INK4A (CDKN2A) gene deletion is a frequent genetic event in synovial sarcomas.

2006

We assessed the frequency of genomic deletion of p16 INK4A (CDKN2A) in synovial sarcomas (SSs) and its possible association with immunoexpression of p16 and cyclin D1 and the Ki-67 proliferation index using dualcolor fluorescence in situ hybridization (FISH) on tissue microarray sections of 41 histologically and molecularly confirmed SSs. A heterozygous p16 INK4A gene deletion was identified in 28 (74%) of 38 cases, with 25 (89%) of them showing abnormal p16 protein expression (20 negative and 5 heterogeneous). Of 25 cases, 19 (76%) exhibiting increased cyclin D1 expression also demonstrated heterozygous p16 INK4A deletion. No significant association was observed between p16 INK4A deletion …

HeterozygoteProliferation indexTumor suppressor geneSoft Tissue NeoplasmsBiologySarcoma SynovialCyclin D1CDKN2ACyclin DCyclinsmedicineBiomarkers TumorHumansCDKN2A Gene DeletionCyclin-Dependent Kinase Inhibitor p16In Situ Hybridization FluorescenceCell Nucleusmedicine.diagnostic_testGeneral Medicinemedicine.diseaseImmunohistochemistrySynovial sarcomaKi-67 AntigenTumor progressionTissue Array AnalysisCancer researchGene DeletionFluorescence in situ hybridizationAmerican journal of clinical pathology
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What «making» history of philosophy means: Deleuze and the question of method

2012

el cometido que Deleuze asigna a la práctica del comentario no es otro que el de liberar al pensamiento del orden filosófico custodiado por la historiografía standard. Para ello el filósofo francés recurre a un determinado tipo de discurso, calificado como «indirecto libre», capaz de ablandar los cercados en los que la Historia de la Filosofía ha confinado y arrinconado a los pensadores —y, con ellos, al pensamiento. Asimismo Deleuze destaca la existencia de un «devenirfilosófico», el cual, a la vez que rebasa la falsa alternativa de lo eterno y de lo histórico, alumbra y anuncia una concepción nueva (intempestiva) de (la historia de) la filosofía. Résumé: la tâche que Deleuze assigne à la …

HistoireUNESCO::FILOSOFÍA:FILOSOFÍA [UNESCO]ConstructivismoDeleuzeCartografíaRizomaHistoria1 - Filosofía y psicologíaDevenir
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The lai “Si bé, Fortuna, has dat lo torn”: a critical edition of the catalan poem from the novel Triste deleitación

2019

The Castilian novel Triste deleitación, written in the late fifteenth century by an author from the Crown of Aragon, includes several letters and poems. One of these poems, “Sy bé, Fortuna, as dat lo torn”, is written in Catalan. This article presents the poem’s annotated critical edition, which reports how it is indebted to the Catalan lyrical tradition. Written in an evolved form of the French lai cultivated by various Catalan poets, the poem is clearly influenced by Pere Torroella’s lai “Qui volrà veure un pobre estat”, and linked to two other similar lais also dependent on Torroella’s. This edition is completed by a translation into modern Catalan. La novel·la en castellà Triste deleita…

HistoryFifteenthLiterature and Literary TheoryLais catalansmedia_common.quotation_subjectPere TorroellaTriste deleitaciónFortunaMossèn NavarroCastilian sentimental fictionmedia_commonRamisUNESCO::CIENCIAS DE LAS ARTES Y LAS LETRASPoetryCatalan laiArtPhilological editionPoesia del segle XVCritical editionlanguage.human_languageFicció sentimental en castellàPoesia catalana medievalMedieval Catalan poetry:CIENCIAS DE LAS ARTES Y LAS LETRAS [UNESCO]languageFifteenth century poetryCatalanHumanities
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Representación y delegación de poderes. Los usos públicos del mandato en el ducado de Borgoña (siglos XIII-XIV)

2019

El presente trabajo trata sobre los usos públicos dados a la técnica romano-canónica del mandato en el ducado de Borgoña durante el siglo XIII y principios del XIV. El artículo tiene como objetivo mostrar la centralidad de esta técnica en las prácticas de delegación de facultades y de representación, esenciales para el ejercicio del gobierno laico en el Occidente medieval. 

History[SHS.ARCHEO] Humanities and Social Sciences/Archaeology and Prehistory[SHS.ARCHEO]Humanities and Social Sciences/Archaeology and PrehistoryDelegationCorporate governancemedia_common.quotation_subjectPoder; justicia; Gobernanza; institucionesHistoriaRepresentation (politics)Attorneyship; Delegation of Powers; Mandate; Duchy of Burgundy; Capeto governmentPoliticsProcuración; Delegación de Poderes; Mandato; Ducado de Borgoña; Gobierno capetoPolitical scienceDuchyHumanitiesComputingMilieux_MISCELLANEOUSmedia_commonAnos 90
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The role of the human cytomegalovirus UL111A gene in down-regulating CD4+ T-cell recognition of latently infected cells: implications for virus elimi…

2009

AbstractThe capacity of human cytomegalovirus (HCMV) to establish and maintain a latent infection from which it can later reactivate ensures its widespread distribution in the population, but the mechanisms enabling maintenance of latency in the face of a robust immune system are poorly understood. We examined the role of the HCMV UL111A gene, which encodes homologs of the immunosuppressive cytokine interleukin-10 in the context of latent infection of myeloid progenitor cells. A UL111A deletion virus was able to establish, maintain, and reactivate from experimental latency in a manner comparable with parental virus, but major histocompatibility complex class II levels increased significantl…

Human cytomegalovirusCD4-Positive T-LymphocytesIsoantigensMyeloidGenes Viralmedicine.medical_treatmentImmunologyPopulationCytomegalovirusDown-RegulationBiologyIn Vitro Techniquesmedicine.disease_causeBiochemistryAutoantigensHerpesviridaeVirusImmune systemmedicineHumansProgenitor celleducationMyeloid Progenitor Cellseducation.field_of_studyHistocompatibility Antigens Class IICell BiologyHematologymedicine.diseaseVirologyVirus LatencyCytokinemedicine.anatomical_structureImmunologyCytomegalovirus InfectionsHost-Pathogen InteractionsGene DeletionBlood
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Candida albicans adhesin Als3p is dispensable for virulence in the mouse model of disseminated candidiasis

2011

The presence of specific proteins, including Ece1p, Hwp1p and Als3p, distinguishes theCandida albicanshyphal cell wall from that of yeast-form cells. These proteins are thought to be important for the ability ofC. albicanscells to adhere to living and non-living surfaces and for the cell-to-cell adhesion necessary for biofilm formation, and also to be pivotal in mediatingC. albicansinteractions with endothelial cells. Using anin vitroflow adhesion assay, we previously observed that yeast cells bind in greater numbers to human microvascular endothelial cells than do hyphal or pseudohyphal cells. This is consistent with previous observations that, in a murine model of disseminated candidiasis…

HyphaeMicrobiologyMicrobiologyMicrobial PathogenicityFungal ProteinsMiceCandida albicansCell AdhesionAnimalsHumansCandida albicansCell adhesionFungal proteinMice Inbred BALB CbiologyVirulenceBiofilmCandidiasisEndothelial Cellsbiology.organism_classificationDisseminated CandidiasisCorpus albicansBacterial adhesinDisease Models AnimalFemaleHyphal cell wallGene Deletion
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