Search results for "Mutant"

showing 10 items of 670 documents

Insights into mRNP biogenesis provided by new genetic interactions among export and transcription factors.

2012

Abstract Background The various steps of mRNP biogenesis (transcription, processing and export) are interconnected. It has been shown that the transcription machinery plays a pivotal role in mRNP assembly, since several mRNA export factors are recruited during transcription and physically interact with components of the transcription machinery. Although the shuttling DEAD-box protein Dbp5p is concentrated on the cytoplasmic fibrils of the NPC, previous studies demonstrated that it interacts physically and genetically with factors involved in transcription initiation. Results We investigated the effect of mutations affecting various components of the transcription initiation apparatus on the…

Nucleocytoplasmic Transport ProteinsSaccharomyces cerevisiae Proteinslcsh:QH426-470MutantActive Transport Cell NucleusRNA-binding proteinRNA polymerase IISaccharomyces cerevisiaeDEAD-box RNA HelicasesTranscription (biology)GeneticsGenetics(clinical)RNA MessengerNuclear poreMex67pTranscription factorGenetics (clinical)AllelesDbp5pGeneticsmRNA exportbiologyGeneral transcription factorfungiNuclear ProteinsRNA-Binding Proteinslcsh:GeneticsRibonucleoproteinsMutationbiology.proteinNuclear PoreRNA Polymerase IINuclear Pore ComplexTranscriptionBiogenesisTranscription FactorsResearch ArticleBMC genetics
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STUDY ON P53 GAIN OF FUNCTION IN 3AB-OS CANCER STEM CELLS

OSTEOSARCOMAMUTANT P53; STEMNESS; CANCER; OSTEOSARCOMA; CANCER STEM CELLS.STEMNESSCANCER STEM CELLS.CANCERMUTANT P53
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Characterization and disruption of the cipC gene in the ochratoxigenic fungus Aspergillus carbonarius

2013

Aspergillus carbonarius is considered the most important ochratoxin A (OTA) producing fungi among those causing OTA contamination in grapes and grape-derived products. CipC is a small protein with unknown function that was previously found to be highly up-regulated in an OTA producer strain of A. carbonarius in comparison to a non OTA producer strain. In this study, cipC was characterized and disrupted via Agrobacterium tumefaciens-mediated transformation in an ochratoxigenic A. carbonarius strain in order to study whether this gene has a role in OTA production. Sequence analysis indicated that the promoter region of cipC contains putative binding sites for transcription factors that regula…

Ochratoxin AcipCOchratoxin productionGrapesStrain (chemistry)AgrobacteriumMutantPromoterWineAspergillus carbonariusBiologybiology.organism_classificationMicrobiologyTransformation (genetics)chemistry.chemical_compoundchemistryOxidative stressGene expressionGeneFood Science
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Nemo regulates cell dynamics and represses the expression of miple, a midkine/pleiotrophin cytokine, during ommatidial rotation

2013

AbstractOmmatidial rotation is one of the most important events for correct patterning of the Drosophila eye. Although several signaling pathways are involved in this process, few genes have been shown to specifically affect it. One of them is nemo (nmo), which encodes a MAP-like protein kinase that regulates the rate of rotation throughout the entire process, and serves as a link between core planar cell polarity (PCP) factors and the E-cadherin–β-catenin complex. To determine more precisely the role of nmo in ommatidial rotation, live-imaging analyses in nmo mutant and wild-type early pupal eye discs were performed. We demonstrate that ommatidial rotation is not a continuous process, and …

Ommatidial rotationRotationCellMutantEyePleiotrophinModels BiologicalArticleImaging Three-DimensionalmedicineAnimalsDrosophila ProteinsMipleProtein kinase AMolecular BiologyGenetic Association Studiesbeta CateninBody PatterningMidkineLive-imagingbiologyGene Expression ProfilingMidkineGene Expression Regulation DevelopmentalCell BiologyCadherinsPhenotypeMolecular biologyCell biologyDrosophila melanogasterPhenotypemedicine.anatomical_structureImaginal DiscsNemoMutationbiology.proteinCytokinesDrosophila eyeFemaleGene expressionMitogen-Activated Protein KinasesSignal transductionOmmatidial rotationDevelopmental BiologyDevelopmental Biology
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Five-year overall survival (OS) in COLUMBUS: A randomized phase 3 trial of encorafenib plus binimetinib versus vemurafenib or encorafenib in patients…

2021

9507 Background: Combined BRAF/MEK inhibitor therapy has demonstrated benefits on progression-free survival (PFS) and OS and is standard of care for the treatment of advanced BRAF V600-mutant melanoma. Here we report a 5-year update from the COLUMBUS trial. Methods: In Part 1 of COLUMBUS, 577 pts with advanced/metastatic BRAF V600-mutant melanoma, untreated or progressed after first-line immunotherapy, were randomized 1:1:1 to encorafenib 450 mg QD + binimetinib 45 mg BID (COMBO450), encorafenib 300 mg QD (ENCO300), or vemurafenib 960 mg BID (VEM). An updated analysis including PFS, OS, objective response rate (ORR; by blinded independent central review), and safety was conducted after min…

OncologyCancer Researchmedicine.medical_specialtybusiness.industryMelanomaMEK inhibitorMutantBinimetinibmedicine.diseasechemistry.chemical_compoundOncologychemistryInternal medicineEncorafenibmedicineOverall survivalIn patientVemurafenibbusinessmedicine.drugJournal of Clinical Oncology
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The prevalent KRAS exon 2 c.35 G > A mutation in metastatic colorectal cancer patients: a biomarker of worse prognosis and potential benefit of bevac…

2015

Bevacizumab-containing chemotherapy differently predict increased efficacy in KRAS exon 2 mutant and wild-type metastatic colorectal cancer (MCRC) patients. Mutant compared to wild-type status did not significantly affect progression-free survival (PFS) and overall survival (OS) in patients fit for first line bevacizumab-containing FIr-B/FOx regimen, and after progression. In patients unfit for intensive regimens, mutant status significantly affected PFS, while not OS. Codon 12 KRAS mutations differentially affect GTPase function, and confer worse clinical behaviour. Prognostic relevance of the prevalent c.35 G. >. A KRAS mutation was retrospectively evaluated. Fit c.35 G. >. A mutant patie…

OncologyVascular Endothelial Growth Factor APathologyKRAS c.35 G>A mutationColorectal cancermedicine.medical_treatmentMutantIntensive regimenColorectal Neoplasmmedicine.disease_causeExonMutation RateAntineoplastic Combined Chemotherapy ProtocolsNeoplasm MetastasisProto-Oncogene ProteinMetastatic colorectal cancerHematologyExonsPrognosisNeoplasm MetastasiBevacizumabTreatment OutcomeOncologyDisease ProgressionBiomarker (medicine)KRASColorectal NeoplasmsHumanmedicine.drugmedicine.medical_specialtyBevacizumabGenotypePrognosiExonAntibodies Monoclonal HumanizedProto-Oncogene Proteins p21(ras)Internal medicineProto-Oncogene ProteinsmedicineHumansChemotherapyAntineoplastic Combined Chemotherapy Protocolbusiness.industryBiomarkerras Proteinmedicine.diseaseRegimenMutationras ProteinsBevacizumab; Biomarker; Intensive regimens; KRAS c.35 G>A mutation; Metastatic colorectal cancer; Antibodies Monoclonal Humanized; Antineoplastic Combined Chemotherapy Protocols; Bevacizumab; Biomarkers; Colorectal Neoplasms; Disease Progression; Genotype; Humans; Mutation Rate; Neoplasm Metastasis; Prognosis; Proto-Oncogene Proteins; Proto-Oncogene Proteins p21(ras); Treatment Outcome; Vascular Endothelial Growth Factor A; ras Proteins; Exons; Mutation; Hematology; Oncology; Geriatrics and GerontologyGeriatrics and GerontologybusinessBiomarkers
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Novel P53 mutations detected by FAMA in colorectal cancers

2006

Background The aim of the study was to identify p53 gene mutations by FAMA (fluorescence-assisted mismatch analysis) in colorectal cancers. Patients and methods Analytical scanning of the p53 gene (exons 5–9) was performed in colon cancer samples from 44 consecutive patients by FAMA. FAMA is a semiautomatic scanning approach based on the chemical cleavage of the mismatch in fluorescently labeled heteroduplex DNA, obtained from the combination of a normal and a mutated allele. FAMA has already shown optimal levels of diagnostic accuracy and sensitivity in detecting gene mutations (nucleotide substitutions, insertions/deletions) both at the germline and somatic level. The peculiar feature of …

Oncologymedicine.medical_specialtyMutantDNA Mutational AnalysisMutation MissenseGene mutationmedicine.disease_causeExonInternal medicinemedicineMissense mutationHumansKey words: colon cancer p53 mutations FAMAAlleleGeneMutationbusiness.industryHematologyDNA NeoplasmExonsGenes p53Molecular biologyOncologybusinessColorectal NeoplasmsHeteroduplex
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Quality-of-life (QoL) in COLUMBUS part 1: A phase 3 trial of encorafenib (ENCO) plus binimetinib (BINI) versus vemurafenib (VEM) or ENCO in braf-muta…

2017

Oncologymedicine.medical_specialtybusiness.industryMelanomaMutantBinimetinibHematologymedicine.disease030226 pharmacology & pharmacyDermatology03 medical and health scienceschemistry.chemical_compound0302 clinical medicineOncologychemistryInternal medicineEncorafenibmedicinebusinessVemurafenib030217 neurology & neurosurgerymedicine.drugAnnals of Oncology
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Characterization of the CtsR stress response regulon in Lactobacillus plantarum.

2010

ABSTRACT Lactobacillus plantarum ctsR was characterized. ctsR was found to be cotranscribed with clpC and induced in response to various abiotic stresses. ctsR deletion conferred a heat-sensitive phenotype with peculiar cell morphological features. The transcriptional pattern of putative CtsR regulon genes was examined in the Δ ctsR mutant. Direct CtsR-dependent regulation was demonstrated by DNA-binding assays using recombinant CtsR and the promoters of the ctsR - clpC operon and hsp1 .

OperonMutantBiology[ SDV.MP.BAC ] Life Sciences [q-bio]/Microbiology and Parasitology/BacteriologyMicroscopy Atomic ForceMicrobiologyRegulonMicrobiologylaw.invention03 medical and health sciencesBacterial ProteinslawGene RegulationPromoter Regions GeneticMolecular BiologyGeneHeat-Shock Proteins030304 developmental biologyGenetics0303 health sciences030306 microbiologyReverse Transcriptase Polymerase Chain ReactionTemperaturePromoterGene Expression Regulation Bacterialbiology.organism_classificationPhenotype[SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/BacteriologyRepressor ProteinsRegulonRecombinant DNALactobacillus plantarumProtein BindingLactobacillus plantarum
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The transcriptional activator rfiA is quorum-sensing regulated by cotranscription with the luxI homolog pcol and is essential for plant virulence in …

2009

The gram-negative phytopathogen Pseudomonas corrugata has an acyl-homoserine lactone (AHL) quorum-sensing (QS) system called PcoI/PcoR that is involved in virulence on tomato. This work identifies, downstream of pcol, a gene designated rfiA, which we demonstrate is directly linked to QS by cotranscription with pcol. The deduced RfiA protein contains a DNA-binding domain characteristic of the LuxR family but lacks the autoinducer-binding terminus characteristic of the QS LuxR-family proteins. We also identified, downstream of rfiA, an operon designated pcoABC, encoding for the three components of a tripartite resistance nodulation-cell-division (RND) transporter system. The expression of pco…

OperonTranscription FactorPhysiologyMutantMolecular Sequence DataPlant DiseaseVirulenceBacterial ProteinPseudomonaMicrobiologyBacterial ProteinsSolanum lycopersicumPseudomonasLycopersicon esculentumBacillus megateriumPlant DiseasesbiologyVirulencefood and beveragesQuorum SensingSettore AGR/12 - Patologia VegetaleGeneral MedicineGene Expression Regulation Bacterialbiology.organism_classificationPseudomonas corrugataQuorum sensingPseudomonadalesMutationAgronomy and Crop SciencePseudomonadaceaeTranscription Factors
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