Search results for " deletion"

showing 10 items of 361 documents

Concomitant loss of conformation and superantigenic activity of staphylococcal enterotoxin B deletion mutant proteins.

1993

The T-cell-stimulating activity of staphylococcal enterotoxin B (SEB) is an important factor in the pathogenesis of certain staphylococcal diseases. To investigate the immunologically active domains of the SEB molecule, we have produced truncated fragments of recombinant SEB by C-terminal and N-terminal deletions. The fragments were expressed as fusion proteins with protein A, including a cleavage site to remove the protein A part. Mutant proteins were tested for the ability to stimulate human resting T cells and SEB-reactive T-cell clones. Deletion of only 9 amino acids from the C terminus leads to complete loss of T-cell-stimulating activity. Removing further amino acids from the SEB mole…

DNA BacterialStaphylococcus aureusRecombinant Fusion ProteinsImmunologyMutantMolecular Sequence DataBiologyMicrobiologyEpitopeEnterotoxinsMiceStructure-Activity RelationshipMutant proteinAnimalsAmino Acid SequencePeptide sequencechemistry.chemical_classificationAntigens BacterialMice Inbred BALB CBase SequenceC-terminusFusion proteinMolecular biologyAmino acidInfectious DiseaseschemistryMutationParasitologyGene DeletionConformational epitopeResearch Article
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Identification of the mstE Gene Encoding a Glucose-inducible, Low Affinity Glucose Transporter in Aspergillus nidulans

2006

The mstE gene encoding a low affinity glucose transporter active during the germination of Aspergillus nidulans conidia on glucose medium has been identified. mstE expression also occurs in hyphae, is induced in the presence of other repressing carbon sources besides glucose, and is dependent on the function of the transcriptional repressor CreA. The expression of MstE and its subcellular distribution have been studied using a MstE-sGFP fusion protein. Concordant with data on mstE expression, MstE-sGFP is synthesized in the presence of repressing carbon sources, and fluorescence at the periphery of conidia and hyphae is consistent with MstE location in the plasma membrane. Deletion of mstE …

DNA ComplementaryDatabases FactualMonosaccharide Transport ProteinsRecombinant Fusion ProteinsGlucose uptakeGenes FungalGreen Fluorescent ProteinsMolecular Sequence DataHyphaeRepressorBiochemistryAspergillus nidulansSubstrate SpecificityFungal ProteinsCell membraneAspergillus nidulansGene Expression Regulation FungalmedicineAmino Acid SequenceMolecular BiologyGenePhylogenyExpressed Sequence TagsFungal proteinbiologyCell MembranefungiGlucose transporterCell BiologySpores FungalBlotting Northernbiology.organism_classificationFusion proteinRepressor ProteinsKineticsGlucosemedicine.anatomical_structureMicroscopy FluorescenceBiochemistryGene DeletionJournal of Biological Chemistry
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Transformation of follicular lymphoma to diffuse large cell lymphoma is associated with a heterogeneous set of DNA copy number and gene expression al…

2002

AbstractGenomic aberrations in a series of paired biopsy samples from patients who presented initially with follicle center lymphoma (FCL) and subsequently transformed to diffuse large B-cell lymphoma (DLBCL) were measured by array comparative genomic hybridization (CGH). The consequences of these aberrations on gene expression were determined by comparison with expression analysis on these specimens using cDNA microarrays. A heterogeneous pattern of acquired genomic abnormalities was observed upon transformation, some of which were recurrent in small subsets of patients. Some of the genomic aberration acquired upon transformation, such as gain/amplification of 1q21-q24, 2p16 (REL/BCL11A ge…

DNA ComplementaryImmunologyFollicular lymphomaLocus (genetics)BiologyAllelic ImbalanceBiochemistryGene duplicationmedicineChromosomes HumanHumansGeneLymphoma FollicularOligonucleotide Array Sequence AnalysisGeneticsChromosome AberrationsGene Expression ProfilingGene AmplificationCell BiologyHematologyDNA Neoplasmmedicine.diseaseBCL6Gene Expression Regulation NeoplasticCell Transformation NeoplasticDisease ProgressionLymphoma Large B-Cell DiffuseDNA microarrayChromosome DeletionDiffuse large B-cell lymphomaComparative genomic hybridizationBlood
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Analysis of expression of an alternative La (SS-B) cDNA and localization of the encoded N- and C-terminal peptides

1997

AbstractA deletion of an (A)-residue was detected in a cDNA encoding for the nuclear autoantigen La/SS-B. The cDNA was recently isolated from a cDNA library made from peripheral blood lymphocytes of a patient with primary Sjögren's Syndrome. The region, where the deletion occurred, represents a hot spot region in the La gene(s). It leads to a frame shift mutation and a premature stop codon eleven amino acids downstream of the deletion site within one of the protease sensitive regions of the La protein. In spite of the frame shift mutation expression of full length La protein occurred efficiently in E. coli. Full length La protein was also made in SF9 cells infected with recombinant baculovi…

DNA ComplementaryMolecular Sequence DataBiologyAutoantigensCell LineFrameshift mutationSingle-stranded binding proteinComplementary DNAEscherichia coliConsensus sequenceProtein biosynthesisHumansAmino Acid SequenceGeneMolecular BiologyBase SequencecDNA libraryCell BiologyMolecular biologyPeptide FragmentsSjogren's SyndromeRibonucleoproteinsCytoplasmMutationbiology.proteinBaculoviridaeGene DeletionBiochimica et Biophysica Acta (BBA) - Molecular Cell Research
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The Rate and Molecular Spectrum of Spontaneous Mutations in Arabidopsis thaliana

2010

Evolution in Action Rates of evolution in gene and genome sequences have been estimated, but these estimates are subject to error because many of the steps of evolution over the ages are not directly measurable or are hidden under subsequent changes. Ossowski et al. (p. 92 ) now provide a more accurate measurement of how often spontaneous mutations arise in a nuclear genome. Mutations arising over 30 generations were compared by sequencing DNA from individual Arabidopsis thaliana plants. UV- and deamination-induced mutagenesis appeared to bias the type of mutations found.

DNA PlantUltraviolet RaysMutantArabidopsismedicine.disease_causeArticlechemistry.chemical_compoundCytosineINDEL MutationArabidopsismedicineArabidopsis thalianaSequence DeletionGeneticsMutationMultidisciplinarybiologyMutagenesisSequence Analysis DNAMutation AccumulationDNA Methylationbiology.organism_classificationMolecular biologychemistryDeaminationMutationDNA IntergenicINDEL MutationCytosineGenome Plant
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Impact of a Three Amino Acid Deletion in the CH2 Domain of Murine IgG1 on Fc-Associated Effector Functions

2008

Abstract Four murine IgG subclasses display markedly different Fc-associated effector functions because of their differential binding to three activating IgG Fc receptors (FcγRI, FcγRIII, and FcγRIV) and C1q. Previous analysis of IgG subclass switch variants of 34-3C anti-RBC monoclonal autoantibodies revealed that the IgG1 subclass, which binds only to FcγRIII and fails to activate complement, displayed the poorest pathogenic potential. This could be related to the presence of a three amino acid deletion at positions 233–235 in the CH2 domain uniquely found in this subclass. To address this question, IgG1 insertion and IgG2b deletion mutants at positions 233–235 of 34-3C anti-RBC Abs were …

Deletion mutantImmunologyAntibody AffinityDown-Regulationddc:616.07BiologySubclassProtein Structure Tertiary/geneticsMiceAnimalsImmunology and AllergyAmino AcidsEffector functionsSequence DeletionMice Knockoutchemistry.chemical_classificationMice Inbred BALB CMice Inbred NZBAnemia Hemolytic Autoimmune/genetics/immunologyReceptors IgGAutoantibodyAmino Acids/chemistry/genetics/metabolismIgg subclassesReceptors IgG/antagonists & inhibitors/genetics/metabolismPathogenicityProtein Structure TertiaryImmunoglobulin G/genetics/metabolismImmunoglobulin Switch RegionCell biologyAmino acidImmunoglobulin Heavy Chains/biosynthesis/genetics/metabolismAntibody Affinity/geneticsBiochemistrychemistryImmunoglobulin GMonoclonalMutagenesis Site-DirectedAnemia Hemolytic AutoimmuneDown-Regulation/genetics/immunologyImmunoglobulin Heavy ChainsThe Journal of Immunology
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Neuronal precursor-specific activity of a human doublecortin regulatory sequence.

2005

The doublecortin (DCX) gene encodes a 40-kDa microtubule-associated protein specifically expressed in neuronal precursors of the developing and adult CNS. Due to its specific expression pattern, attention was drawn to DCX as a marker for neuronal precursors and neurogenesis, thereby underscoring the importance of its promoter identification and promoter analysis. Here, we analysed the human DCX regulatory sequence and confined it to a 3.5-kb fragment upstream of the ATG start codon. We demonstrate by transient transfection experiments that this fragment is sufficient and specific to drive expression of reporter genes in embryonic and adult neuronal precursors. The activity of this regulator…

Doublecortin Domain ProteinsDoublecortin Protein5' Flanking RegionBlotting WesternMolecular Sequence DataRegulatory Sequences Nucleic AcidTransfectionBiochemistryHippocampusCellular and Molecular NeuroscienceMiceGene expressionAnimalsHumansCell LineageGrowth SubstancesGeneTranscription factorCells CulturedSequence DeletionRegulation of gene expressionNeuronsReporter genebiologyBase SequenceStem CellsNeurogenesisNeuropeptidesBrainSequence Analysis DNAMolecular biologyDoublecortinMice Inbred C57BLGene Expression RegulationRegulatory sequencebiology.proteinMicrotubule-Associated ProteinsJournal of neurochemistry
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Characterization of murine monoclonal antibodies against the Ro52 autoantigen

1997

SUMMARY Immunization of BALB/c mice with purified recombinant human Ro52 protein resulted in three anti-Ro52 MoAbs termed 2E7, 4C6 and 4F11. All anti-Ro52 MoAbs specifically reacted with recombinant human Ro52 protein, and also with Ro52 protein in total extracts of all human cell lines analysed, including the epithelial cell line HeLa, the B cell line Raji, the bladder carcinoma cell line RT112, and a fibroblast cell line derived from patients with xeroderma pigmentosum. The anti-Ro52 MoAbs were able to immunoprecipitate the recombinant human Ro52 protein expressed in wheat germ extract, but failed to precipitate hY RNAs from cell extracts. The staining pattern of the MoAbs strongly differ…

Editorial Reviewmedicine.drug_classMolecular Sequence DataImmunologyCellMonoclonal antibodyAutoantigensEpitopelaw.inventionHeLaMiceAntibody SpecificitylawRNA Small CytoplasmicmedicineAnimalsHumansImmunology and AllergyAmino Acid SequencebiologyAntibodies Monoclonalbiology.organism_classificationMolecular biologyRecombinant ProteinsStainingEpitope mappingmedicine.anatomical_structureRibonucleoproteinsImmunologybiology.proteinRecombinant DNAAntibodySequence AlignmentEpitope MappingGene DeletionClinical and Experimental Immunology
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Oligodendrocyte-specific FADD deletion protects mice from autoimmune-mediated demyelination.

2010

Abstract Apoptosis of oligodendrocytes (ODCs), the myelin-producing glial cells in the CNS, plays a central role in demyelinating diseases such as multiple sclerosis and experimental autoimmune encephalomyelitis (EAE), an animal model of multiple sclerosis. To investigate the mechanism behind ODC apoptosis in EAE, we made use of conditional knockout mice lacking the adaptor protein FADD specifically in ODCs (FADDODC-KO). FADD mediates apoptosis by coupling death receptors with downstream caspase activation. In line with this, ODCs from FADDODC-KO mice were completely resistant to death receptor-induced apoptosis in vitro. In the EAE model, FADDODC-KO mice followed an ameliorated clinical di…

Encephalomyelitis Autoimmune ExperimentalMultiple Sclerosisgenetic structuresEncephalomyelitisFas-Associated Death Domain ProteinImmunologyApoptosisurologic and male genital diseasesMiceConditional gene knockoutDemyelinating diseasemedicineImmunology and AllergyAnimalsFADDLymphocytesMyelin SheathDeath domainInflammationMice KnockoutbiologyMultiple sclerosisMacrophagesfungiExperimental autoimmune encephalomyelitismedicine.diseaseOligodendrocyteOligodendrogliamedicine.anatomical_structureGene Expression RegulationSpinal CordCancer researchbiology.proteinbiological phenomena cell phenomena and immunityGene DeletionJournal of immunology (Baltimore, Md. : 1950)
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Binding of Escherichia coli hemolysin and activation of the target cells is not receptor-dependent.

2005

Abstract Production of a single cysteine substitution mutant, S177C, allowed Escherichia coli hemolysin (HlyA) to be radioactively labeled with tritiated N-ethylmaleimide without affecting biological activity. It thus became possible to study the binding characteristics of HlyA as well as of toxin mutants in which one or both acylation sites were deleted. All toxins bound to erythrocytes and granulocytes in a nonsaturable manner. Only wild-type toxin and the lytic monoacylated mutant stimulated production of superoxide anions in granulocytes. An oxidative burst coincided with elevation of intracellular Ca2+, which was likely because of passive influx of Ca2+ through the toxin pores. Competi…

ErythrocytesAcylationMutantBacterial ToxinsBiologymedicine.disease_causeBiochemistryHemolysin ProteinsSuperoxidesmedicineEscherichia coliHumansReceptorMolecular BiologyEscherichia coliRespiratory BurstSequence DeletionBinding SitesToxinHemolysinBiological activityCell BiologyMolecular biologyLymphocyte Function-Associated Antigen-1Respiratory burstBiochemistryAmino Acid SubstitutionMutationMutagenesis Site-DirectedbacteriaCalciumK562 CellsIntracellularGranulocytesThe Journal of biological chemistry
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