Search results for "Repressor Proteins"

showing 10 items of 169 documents

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

2015

Contains fulltext : 153827.pdf (Publisher’s version ) (Open Access) Ablepharon macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are rare congenital ectodermal dysplasias characterized by similar clinical features. To establish the genetic basis of AMS and BSS, we performed extensive clinical phenotyping, whole exome and candidate gene sequencing, and functional validations. We identified a recurrent de novo mutation in TWIST2 in seven independent AMS-affected families, as well as another recurrent de novo mutation affecting the same amino acid in ten independent BSS-affected families. Moreover, a genotype-phenotype correlation was observed, because the two syndromes differed based s…

Models MolecularCandidate geneHirsutismProtein ConformationHeLa Cellmedicine.disease_causeTranscriptomeTwist transcription factorModelsGenetics(clinical)ExomeEye AbnormalitiesNon-U.S. Gov'tExomeGenetics (clinical)ZebrafishGeneticsMutationMicroscopyMacrostomiaSetleis syndromeHypertelorismResearch Support Non-U.S. Gov'tHypertrichosiEyelid DiseaseGENÉTICAPhenotypeEyelid DiseasesAbnormalitiesMultipleSequence AnalysisHumanChromatin ImmunoprecipitationMolecular Sequence DataMutation MissenseHypertrichosisAbnormalities; Multiple; Amino Acid Sequence; Animals; Base Sequence; Chromatin Immunoprecipitation; Exome; Eye Abnormalities; Eyelid Diseases; HeLa Cells; Hirsutism; Humans; Hypertelorism; Hypertrichosis; Macrostomia; Microscopy; Electron; Molecular Sequence Data; Mutation; Missense; Protein Conformation; Repressor Proteins; Sequence Analysis; DNA; Skin Abnormalities; Twist Transcription Factor; Zebrafish; Models; Molecular; Phenotype; Genetics; Genetics (clinical)Other Research Radboud Institute for Molecular Life Sciences [Radboudumc 0]BiologyResearch SupportElectronArticleFrameshift mutationGeneticAblepharon macrostomia syndromeSkin AbnormalitieGeneticsmedicineJournal ArticleAnimalsHumansAbnormalities MultipleAmino Acid SequenceNeurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]Base SequenceAnimalTwist-Related Protein 1MolecularSequence Analysis DNADNARepressor Proteinmedicine.diseaseRepressor ProteinsTwist Transcription FactorEye AbnormalitieMicroscopy ElectronMutationSkin Abnormalitiessense organsMissenseNanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19]HeLa CellsAmerican journal of human genetics
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Site-specific Labelling with a Metal Chelator for Protein-structure Refinement

2004

A single free Cys sidechain in the N-terminal domain of the E. coli arginine repressor was covalently derivatized with S-cysteaminyl-EDTA for site-specific attachment of paramagnetic metal ions. The effects of chelated metal ions were monitored with (15)N-HSQC spectra. Complexation of Co(2+), which has a fast relaxing electron spin, resulted in significant pseudocontact shifts, but also in peak doubling which was attributed to the possibility of forming two different stereoisomers of the EDTA-Co(2+) complex. In contrast, complexation of Cu(2+) or Mn(2+), which have slowly relaxing electron spins, did not produce chemical shift changes and yielded self-consistent sets of paramagnetic relaxat…

Models MolecularMagnetic Resonance SpectroscopyTime FactorsMetal ions in aqueous solutionElectronsGadoliniumBiochemistryIonParamagnetismchemistry.chemical_compoundNuclear magnetic resonanceBacterial ProteinsAmideEscherichia coliChelationCysteineEdetic AcidSpectroscopyChelating AgentsIonsManganeseElectronic correlationChemistryRelaxation (NMR)Electron Spin Resonance SpectroscopyProteinsCobaltDNAProtein Structure TertiaryRepressor ProteinsCrystallographyModels ChemicalCovalent bondProtonsCopperJournal of Biomolecular NMR
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Homology modeling using simulated annealing of restrained molecular dynamics and conformational search calculations with CONGEN: application in predi…

1997

We have developed an automatic approach for homology modeling using restrained molecular dynamics and simulated annealing procedures, together with conformational search algorithms available in the molecular mechanics program CONGEN (Bruccoleri RE, Karplus M, 1987, Biopolymers 26:137-168). The accuracy of the method is validated by "predicting" structures of two homeodomain proteins with known three-dimensional structures, and then applied to predict the three-dimensional structure of the homeodomain of the murine Msx-1 transcription factor. Regions of the unknown protein structure that are highly homologous to the known template structure are constrained by "homology distance constraints,"…

Models MolecularSaccharomyces cerevisiae ProteinsProtein ConformationMSX1 Transcription FactorMolecular Sequence DataSaccharomyces cerevisiaeBiologyProtein EngineeringBiochemistryProtein Structure SecondaryMolecular dynamicsMiceProtein structureAnimalsComputer SimulationHomology modelingAmino Acid SequenceMolecular BiologyHomeodomain ProteinsMSX1 Transcription FactorSequence Homology Amino AcidNuclear ProteinsProtein engineeringProtein superfamilyengrailedRepressor ProteinsCrystallographyAntennapedia Homeodomain ProteinThreading (protein sequence)AlgorithmsInformation SystemsTranscription FactorsResearch ArticleProtein science : a publication of the Protein Society
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Molecular characterization of the zerknüllt region of the Antennapedia complex of D. subobscura.

1995

We have characterized at the molecular level the zerknullt (zen) region of the Drosophila subobscura Antennapedia complex. The sequence comparison between D. subobscura and D. melanogaster shows an irregular distribution of the conserved and diverged regions, with the homeobox and a putative activating domain completely conserved. Comparisons of the promoter sequence and pattern of expression of the gene during development suggest that the regulation of zen has been conserved during evolution. The conservation of zen expression in a subpopulation of the polar cells indicates the existence of an important role in such cells. We describe a transitory segmented pattern of expression of zen in …

Molecular Sequence DataPair-rule geneGenes InsectAntennapediaGenomeChromosomesGeneticsMelanogasterAnimalsDrosophila ProteinsAmino Acid SequenceRNA MessengerCloning MolecularPromoter Regions GeneticGeneGenetics (clinical)In Situ HybridizationGeneticsHomeodomain ProteinsbiologyBase SequencefungiGenes HomeoboxChromosomeChromosome MappingGene Expression Regulation DevelopmentalNuclear Proteinsbiology.organism_classificationDrosophila subobscuraDNA-Binding ProteinsRepressor ProteinsInsect HormonesAntennapedia Homeodomain ProteinHomeoboxDrosophilaSequence AlignmentTranscription FactorsChromosoma
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Mir-661: A key Factor in Embryo-Maternal dialog With Potential Clinical Application to Predict Implantation Outcome?

2015

Implantation resulting in a full-term pregnancy is, by large, more than a passive process in which the developed conceptus is passively glued to the uterus through adhesive molecules. It is the result of a perfectly orchestrated dialog between a viable embryo and a receptive endometrium, through a mixture of paracrine and juxtacrine processes in which many key proteins and growth factors play fundamental roles (Pellicer et al., 2002.) Since their discovery, microRNAs have become prominent regulatory candidates, providing missing links for a few biological pathways in this process, although their exact role in human normal embryo formation and endometrial preparation for pregnancy remains un…

NectinsPopulationlcsh:MedicineContext (language use)Fertilization in VitroBiologyBioinformaticsEndometriumHistone DeacetylasesRNA TransportGeneral Biochemistry Genetics and Molecular BiologyCell LineTranscriptomeEndometriumParacrine signallingCell AdhesionmedicineHumansConceptusEmbryo ImplantationEukaryotic Initiation Factorseducationlcsh:R5-920education.field_of_studylcsh:REpithelial CellsEmbryoGeneral MedicineRepressor ProteinsMicroRNAsBlastocystmedicine.anatomical_structureArgonaute Proteinsembryonic structuresImmunologyCommentaryFemaleRNA Interferencelcsh:Medicine (General)Cell Adhesion MoleculesEmbryo qualityEBioMedicine
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The transcription factor Zfh1 is involved in the regulation of neuropeptide expression and growth of larval neuromuscular junctions in Drosophila mel…

2008

AbstractDifferent aspects of neural development are tightly regulated and the underlying mechanisms have to be transcriptionally well controlled. Here we present evidence that the transcription factor Zfh1, the Drosophila member of the conserved zfh1 gene family, is important for different steps of neuronal differentiation. First, we show that late larval expression of the neuropeptide FMRFamide is dependent on correct levels of Zfh1 and that this regulation is presumably direct via a conserved zfh1 homeodomain binding site in the FMRFamide enhancer. Using MARCM analysis we additionally examined the requirement for Zfh1 during embryonic and larval stages of motoneuron development. We could …

Neuromuscular JunctionAxonal outgrowthAnimalsDrosophila ProteinsFMRFamideFMRFamideFRMFaEnhancerMolecular BiologyTranscription factorMotor NeuronsZfh1biologyEffectorfungiMARCMCell DifferentiationCell Biologybiology.organism_classificationSynapseMolecular biologyAxonsMotoneuronCell biologyDNA-Binding ProteinsRepressor ProteinsDrosophila melanogasternervous systemMARCMLarvaHomeoboxDrosophila melanogasterNeural developmentDevelopment NeurogenesisDevelopmental BiologyDevelopmental biology
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Human papillomavirus infections and upper aero-digestive tract cancers: the ARCAGE study.

2013

Human papillomavirus (HPV) is causally implicated in a subset of cancers of the upper aero-digestive tract (UADT). Methods Associations between type-specific HPV antibodies were examined among 1496 UADT cancer case subjects and 1425 control subjects by estimating odds ratios (ORs) in logistic regression analyses adjusted for potential confounders. The agreement between serology and tumor markers of HPV infection, including presence of HPV DNA and p16 expression, were examined in a subset of tumors. Results HPV16 L1 seropositivity was associated with increased risk of oral cavity and oropharyngeal cancer (OR = 1.94, 95% confidence interval [CI] = 1.03 to 3.65; OR = 8.60, 95% CI = 5.21 to 14.…

OncologyMaleCancer Researchmedicine.medical_specialtyvirusesPapillomavirus E7 ProteinsFluorescent Antibody TechniqueBiologyAntibodies ViralPolymerase Chain ReactionSerologyInternal medicinemedicineBiomarkers TumorOdds RatioHumansLaryngeal NeoplasmsAgedNeoplasm StagingHuman papillomavirus 16ConfoundingPapillomavirus InfectionsCase-control studyHPV infectionCancervirus diseasesOdds ratioOncogene Proteins ViralMiddle Agedmedicine.diseasefemale genital diseases and pregnancy complicationsUp-RegulationRepressor ProteinsOropharyngeal NeoplasmsOropharyngeal NeoplasmLogistic ModelsOncologyCase-Control StudiesImmunologyHuman papillomavirus 16; Oropharyngeal Neoplasms; Papillomavirus InfectionsDNA ViralEtiologyFemaleJournal of the National Cancer Institute
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The Streptomyces coelicolor dnaK operon contains a second promoter driving the expression of the negative regulator hspR at physiological temperature

2006

HspR (heat shock protein regulator) acts as a negative regulator of different genes in many bacteria. In Streptomyces coelicolor hspR gene is part and the transcriptional repressor of the dnaK operon which encodes the DnaK, GrpE, DnaJ chaperone machines and HspR itself. Our experiments led us to the discovery of a second promoter, internal to dnaK operon, located upstream hspR gene. Transcription from this promoter was detected at 30 degrees C indicating that hspR could play a key physiological role.

OperonMolecular Sequence Datagenetic processesRegulatorStreptomyces coelicolorBiochemistryMicrobiologyheat shock responseBacterial ProteinsTranscription (biology)Heat shock proteinOperonGeneticsHSP70 Heat-Shock ProteinsHeat shockPromoter Regions GeneticMolecular BiologyGeneHeat-Shock ProteinsGeneticsBase SequencebiologyReverse Transcriptase Polymerase Chain ReactionStreptomyces coelicolorTemperatureGene Expression Regulation BacterialGeneral Medicinebiology.organism_classificationRepressor ProteinshspRChaperone (protein)biological sciencesbiology.proteinbacteriaArchives of Microbiology
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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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Modulation of Hedgehog target gene expression by the Fused serine-threonine kinase in wing imaginal discs

1998

0925-4773 doi: DOI: 10.1016/S0925-4773(98)00130-0; The Fused (Fu) serine–threonine kinase and the Suppressor of fused (Su(fu)) product are part of the Hedgehog (Hh) signalling pathway both in embryos and in imaginal discs. In wing imaginal discs, the Hh signal induces Cubitus interruptus (Ci) accumulation and activates patched (ptc) and decapentaplegic (dpp) expression along the anterior/posterior (A/P) boundary. In this paper, we have examined the role of the Fu and Su(fu) proteins in the regulation of Hh target gene expression in wing imaginal discs, by using different classes of fu alleles and an amorphic Su(fu) mutation. We show that, at the A/P boundary, Fu kinase activity is involved …

PatchedEmbryologyanimal structuresReceptors Cell SurfaceBiologyProtein Serine-Threonine KinasesSignal transductionCubitus interruptusImaginal disc developmentMorphogenesisAnimalsDrosophila ProteinsWings AnimalHedgehog ProteinsKinase activitySuppressor of fusedGeneticsSerine/threonine-specific protein kinaseHomeodomain ProteinsDecapentaplegicFusedGene Expression Regulation DevelopmentalMembrane ProteinsCi proteinHedgehog signaling pathwayCell biologyDNA-Binding ProteinsRepressor ProteinsImaginal discDrosophila melanogasterInsect ProteinsDrosophilaHedgehogMorphogenTranscription FactorsDevelopmental Biology
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