Search results for " Single-Stranded"

showing 10 items of 81 documents

Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib.

1998

A Spanish family with three Usher I syndrome-affected members was linked to markers located on chromosome 11q. A search for mutations on the myosin VIIA gene revealed a novel mutation (Cys628STOP) on exon 16 segregating with the disorder in a homozygous state. This nonsense mutation could be responsible for the disease since it leads to a truncated protein that presumably has no function.

MaleUsher syndromeNonsense mutationDNA Mutational AnalysisGenes RecessiveBiologyDeafnessMyosinsPolymerase Chain ReactionExonotorhinolaryngologic diseasesmedicineHumansCysteineMolecular BiologyGenePolymorphism Single-Stranded ConformationalGeneticsMyosin VIIaChromosomeDyneinsCell BiologyDNAExonsSyndromeMiddle Agedmedicine.diseasePedigreeMyosin VIIaMutation (genetic algorithm)MutationCodon TerminatorFemaleNovel mutationRetinitis PigmentosaMolecular and cellular probes
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A DNA-nanoparticle actuator enabling optical monitoring of nanoscale movements induced by an electric field.

2018

Merging biological and non-biological matter to fabricate nanoscale assemblies with controllable motion and function is of great interest due to its potential application, for example, in diagnostics and biosensing. Here, we have constructed a DNA-based bionanoactuator that interfaces with biological and non-biological matter via an electric field in a reversibly controllable fashion. The read-out of the actuator is based on motion-induced changes in the plasmon resonance of a gold nanoparticle immobilized to a gold surface by single stranded DNA. The motion of the gold nanoparticle and thus the conformational changes of the DNA under varying electric field were analyzed by dark field spect…

Materials scienceta221Immobilized Nucleic AcidsPhysics::OpticsNanoparticleDNA Single-StrandedMetal NanoparticlesNanotechnology02 engineering and technology010402 general chemistrySpectrum Analysis Raman01 natural sciencesnanobiotechnologyBiokemia solu- ja molekyylibiologia - Biochemistry cell and molecular biologyNanoteknologia - NanotechnologyElectricityElectric fieldGeneral Materials ScienceBiotinylationSurface plasmon resonanceSpectroscopyQuantitative Biology::Biomoleculesta114Optical ImagingnanobiotekniikkaDNASurface Plasmon Resonance021001 nanoscience & nanotechnologyAvidin0104 chemical sciencesNanostructuresColloidal goldNucleic Acid ConformationnanohiukkasetnanoparticlesGold0210 nano-technologyActuatorBiosensorVoltageNanoscale
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Conformational and structural analysis of the equilibrium between single- and double-strand ?-helix of aD,L-alternating oligonorleucine

2004

Alternating sequences of D and L residues in peptides are directly related to the formation of several kinds of regular helical conformations usually called beta-helices. The major feature of these structures is that they can be associated with the transmembrane ion-conducting channel activity in some natural antibacterial peptides. The study of alternating D,L synthetic peptides is critical to understand how factors such as surrounding media, main chain length, type of side chain and terminal groups, among others, can determine the adoption of a specific kind of beta-helix. Early studies pointed out that the peptides Boc-(D-NLeu-L-NLeu)(6)-D-MeNLe-L-Nl-D-Nl-L-Nl-OMe (Boc: tert-butyloxycarb…

Models MolecularMagnetic Resonance SpectroscopyProtein ConformationStereochemistryDimerMolecular Sequence DataBiophysicsDNA Single-StrandedBeta helixStereoisomerismAntiparallel (biochemistry)BiochemistryProtein Structure SecondaryBiomaterialsMolecular dynamicschemistry.chemical_compoundProtein structureNorleucineSide chainAmino Acid SequenceChemistryOrganic ChemistryStereoisomerismDNAGeneral MedicineNuclear magnetic resonance spectroscopyCrystallographyNucleic Acid ConformationThermodynamicsOligopeptidesBiopolymers
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Functional variants of 5S rRNA in the ribosomes of common sea urchin Paracentrotus lividus

2012

Abstract We have previously reported a molecular and cytogenetic characterization of three different 5S rDNA clusters in the sea urchin Paracentrotus lividus ; this study, performed at DNA level only, lends itself as starting point to verify that these clusters could contain transcribed genes, then, to demonstrate the presence of heterogeneity at functional RNA level, also. In the present work we report in P. lividus ribosomes the existence of several transcribed variants of the 5S rRNA and we associate all transcribed variants to the cluster to which belong. Our finding is the first demonstration of the presence of high heterogeneity in functional 5S rRNA molecules in animal ribosomes, a f…

Molecular Sequence DataDNA RibosomalPolymerase Chain ReactionRibosomeParacentrotus lividusSea urchin Paracentrotus lividus 5S gene 5S rRNA variants Single-strand conformation polymorphism (SSCP)5S ribosomal RNAchemistry.chemical_compoundSequence Homology Nucleic Acidbiology.animalGeneticsAnimalsCloning MolecularInternal transcribed spacerSea urchinGenePolymorphism Single-Stranded ConformationalGeneticsBase SequencebiologyRNA Ribosomal 5SComputational BiologyGeneral MedicineNon-coding RNAbiology.organism_classificationSettore BIO/18 - GeneticachemistryOocytesParacentrotusRibosomesDNAGene
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Delayed lysis confers resistance to the nucleoside analogue 5-fluorouracil and alleviates mutation accumulation in the single-stranded DNA bacterioph…

2014

ABSTRACT Rates of spontaneous mutation determine viral fitness and adaptability. In RNA viruses, treatment with mutagenic nucleoside analogues selects for polymerase variants with increased fidelity, showing that viral mutation rates can be adjusted in response to imposed selective pressures. However, this type of resistance is not possible in viruses that do not encode their own polymerases, such as single-stranded DNA viruses. We previously showed that serial passaging of bacteriophage ϕX174 in the presence of the nucleoside analogue 5-fluorouracil (5-FU) favored substitutions in the lysis protein E (P. Domingo-Calap, M. Pereira-Gomez, and R. Sanjuán, J. Virol. 86: 9640–9646, 2012, doi:10…

Mutation rateImmunologyAdaptation BiologicalMutation MissenseDNA Single-Strandedmedicine.disease_causeMicrobiologyBacteriophage03 medical and health scienceschemistry.chemical_compoundViral ProteinsBacteriolysisMutation RateVirologymedicineBacteriophagesSelection GeneticPolymerase030304 developmental biologyGenetics0303 health sciencesMutationbiology030302 biochemistry & molecular biologyMutagenesisMutation AccumulationResistance mutationbiology.organism_classificationVirologychemistryGenetic Diversity and EvolutionInsect ScienceDNA Viralbiology.proteinMutant ProteinsFluorouracilDNAJournal of virology
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Nanomaterial-based cocaine aptasensors.

2015

Up to now, many different methods have been developed for detection of cocaine, but most of these methods are usually time-consuming, tedious and require special or expensive equipment. Therefore, the development of simple, sensitive and rapid detection methods is necessary. In the last decade, aptamers have been used as a new biosensor platform for detection of cocaine in different samples. Aptamers are artificial single-stranded DNA or RNA oligonucleotides capable of binding to specific molecular targets with high affinity and if integrated to nanomaterials, it may lead in precise methods for cocaine detection in the common laboratories. In this review, recent advances and applications of…

OligonucleotideComputer scienceAptamerBiomedical EngineeringBiophysicsDNA Single-StrandedNanotechnologyGeneral MedicineBiosensing TechniquesElectrochemical TechniquesAptamers NucleotideRapid detectionQuantitative determinationFluorescenceCocaineNanosensorElectrochemistryMolecular targetsHumansColorimetryBiosensorBiotechnologyBiosensorsbioelectronics
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Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease

2001

BACKGROUNDHirschsprung disease (HSCR) is a frequent congenital disorder with an incidence of 1 in 5000 live births, characterised by the absence of parasympathetic intramural ganglion cells in the hindgut resulting in intestinal obstruction in neonates and severe constipation in infants and adults. Intestinal neuronal dysplasia (IND) shares clinical features with HSCR but the submucosal parasympathetic plexus is affected. IND has been proposed as one of the most frequent causes of chronic constipation and is often associated with HSCR.METHODSWe examined 29 patients diagnosed with sporadic HSCR, 20 patients with IND, and 12 patients with mixed HSCR/IND for mutations in the coding regions of …

Pathologymedicine.medical_specialtyGlial Cell Line-Derived Neurotrophic Factor ReceptorsHirschsprung diseaseMUTATION ANALYSISNerve Tissue ProteinsTYROSINE KINASEEDNRBArticleExonGermline mutationProto-Oncogene ProteinsNEUROTROPHIC FACTOR GDNFmedicineGlial cell line-derived neurotrophic factorDrosophila ProteinsHumansGlial Cell Line-Derived Neurotrophic FactorNerve Growth FactorsAlleleintestinal neuronal dysplasiaAllelesPolymorphism Single-Stranded ConformationalIntestinal neuronal dysplasiabiologyReceptors EndothelinSHAH-WAARDENBURG SYNDROMEProto-Oncogene Proteins c-retENDOTHELIN-B-RECEPTORMULTIGENIC INHERITANCEGastroenterologyReceptor Protein-Tyrosine KinasesSequence Analysis DNAGERMLINE MUTATIONSbiochemical phenomena metabolism and nutritionPROTOONCOGENEmedicine.diseasePHENOTYPIC-EXPRESSIONGDNFPedigreeProto-Oncogene Proteins c-retDysplasiaCase-Control StudiesMutationbiology.proteinLIGANDRETCongenital disorderEDN3
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The contribution of hydrogen peroxide to the radiosensitizing effect of gold nanoparticles

2019

Abstract Plasmid DNA in aerated aqueous solution is used as a probe to determine whose of the reactive oxygen species (ROS) generated after absorption of ultra-soft X-rays (USX) take part in biomolecule damage in the presence and in absence of Gold Nano-Particles (GNP) and specific scavengers. Citrate-coated GNPs with core sizes of 6, 10 and 25 nm are synthetized and characterized, especially in terms of plasmon band shift, ζ-potential and hydrodynamic radii (respectively 9, 21 and 30 nm). We confirm the radiosensitizing effect of GNP and show that the SSB number per plasmid increases when, for a same mass of gold element, the core size of the gold nanoparticles decreases. Hydroxyl radicals…

Radiation-Sensitizing AgentsFormatesRadicalMetal Nanoparticles02 engineering and technologyPhotochemistry01 natural sciencesCitric AcidMetalchemistry.chemical_compoundColloid and Surface ChemistryPyruvic Acid0103 physical sciences[CHIM]Chemical SciencesMoleculeDimethyl SulfoxideDNA Breaks Single-StrandedParticle SizeTromethaminePhysical and Theoretical ChemistryHydrogen peroxideComputingMilieux_MISCELLANEOUSchemistry.chemical_classificationReactive oxygen speciesQuenching (fluorescence)Aqueous solution010304 chemical physicsHydroxyl RadicalX-RaysFree Radical ScavengersHydrogen PeroxideSurfaces and InterfacesGeneral Medicine021001 nanoscience & nanotechnologySolutionschemistryColloidal goldvisual_artvisual_art.visual_art_mediumGold0210 nano-technologyPlasmidsBiotechnologyColloids and Surfaces B: Biointerfaces
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Direct Identification of Each Specific Mutation in Codon 12 and 13 of ci-ki-ras2 by SSCP Analysis

1998

We compared the SSCP behaviour of the DNA fragments containing c-ki-ras 2 wild type 12 and 13 codons or each of the 12 possible point mutated sequences in these two codons. We found that a single electrophoresis condition was sufficient to distinguish each specific mutation from the other 11 and from the wild type sequence. This observation makes it possible to identify each specific mutation directly by SSCP without any need for reamplification and sequencing.

SSCP analysisBiophysicsBiologyBiochemistryFrameshift mutationProto-Oncogene Proteins p21(ras)chemistry.chemical_compoundGene FrequencyHumansCloning MolecularRas2CodonMolecular BiologyPolymorphism Single-Stranded ConformationalSequence (medicine)GeneticsSpecific mutationCarcinomaWild typeSingle-strand conformation polymorphismDNA NeoplasmCell BiologyMolecular biologyGenes raschemistryMutationElectrophoresis Polyacrylamide GelColorectal NeoplasmsDNABiochemical and Biophysical Research Communications
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Lack of correlation between apoptosis and DNA single-strand breaks in X-irradiated human peripheral blood mononuclear cells in the course of ageing

1998

The dependence on age of both the basal and the X-radiation-induced levels of apoptosis was examined in human peripheral blood mononuclear cells (PBMC). In the same samples, the base value and the extent of induced DNA single-strand breaks were determined, using a sensitive and fast microplate assay. PBMC were isolated from blood of donors of various age groups (20-30, 40-60 and > 70 years of age) and X-irradiated ex vivo using a 6 MV linear accelerator to give a total exposure of 4 Gy. The mean basal levels of apoptosis in PBMC from donors in the 40-60 year age group and the > 70 year age group were found to be only slightly higher (by 20-10%) compared to that of the 20-30 year age group, …

SenescenceAgingProgrammed cell deathDNA damageX-RaysDNA Single-StrandedApoptosisBiologyPeripheral blood mononuclear cellAndrologyBlood cellmedicine.anatomical_structureApoptosisAgeingImmunologyLeukocytes MononuclearmedicineHumansRadiation-induced apoptosis; T-cells; Intrinsic radiosensitivity; Ionizing-radiation; Cervical-carcinoma; Human-lymphocytes; Immune-systemEx vivoDevelopmental BiologyMechanisms of Ageing and Development
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