Search results for "defect"

showing 10 items of 879 documents

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

2012

Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex. Consistent with the observation of shortened telomeres in an Arabidopsis CTC1 mutant and the phenotypic overlap of Coats plus with the telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three individuals with Coats plus and an increase in spontaneous γ 3H2AX-positive cells in cell lines derived from two affected individual…

DNA polymeraseMolecular Sequence DataTelomere-Binding ProteinsHistones/metabolismHDE GENHDE NEU PEDCST complexCEREBRORETINAL MICROANGIOPATHY FAMILIAL SYNDROME CALCIFICATIONS CYSTS PROTEIN DNA LEUKOENCEPHALOPATHY EVOLUTION DEFECTSHistoneschemistry.chemical_compoundAbnormalities Multiple/geneticsGeneticsmedicineAbnormalities MultipleGenetic Predisposition to DiseaseGeneticsTelomere-binding proteinTelomere/pathologyddc:618biologyBase SequenceGenetic Predisposition to Disease/geneticsDNA replicationSequence Analysis DNATelomeremedicine.diseaseFlow CytometryTelomereCell biologyRetinal Telangiectasis/genetics/pathologychemistrySequence Analysis DNA/methodsbiology.proteinRetinal TelangiectasisPrimaseTelomere-Binding Proteins/geneticsDNADyskeratosis congenitaNature Genetics
researchProduct

Long-Range and Short-Range Structure of Proton-Conducting Y:BaZrO3

2011

Yttrium-doped barium zirconate (BZY) is the most promising candidate for proton-conducting ceramics and has been extensively studied in recent years. The detailed features of the crystal structure, both short-range and long-range, as well as the crystal chemistry driving the doping process, are largely unknown. We use very high resolution X-ray diffraction (HR-XRD) to resolve the crystal structure, which is very slightly tetragonally distorted in BZY, while the local environment around Zr4+ and Y3+ is probed with extended X-ray absorption fine structure (EXAFS), and the symmetry and vibrations are investigated by using Raman spectroscopy. It is found that barium zirconate shows some degree …

DYNAMICSRAMAN-SCATTERINGMaterials scienceCrystal chemistryGeneral Chemical EngineeringYTTRIUMRAMAN-SCATTERING; LOCAL ENVIRONMENT; BARIUM CERATE; SPECTROSCOPY; YTTRIUM; BAZR0.9Y0.1O2.95; STRONTIUM; DYNAMICS; DEFECTS; OXIDESCrystal structuresymbols.namesakeSTRONTIUMMaterials ChemistryLOCAL ENVIRONMENTBAZR0.9Y0.1O2.95OXIDESSpectroscopyProton conductorSPECTROSCOPYExtended X-ray absorption fine structureDopingDEFECTSGeneral ChemistryCrystallographysymbolsRaman spectroscopyBARIUM CERATERaman scatteringChemistry of Materials
researchProduct

Laser Ultrasonics Inspection of Train Wheel - Evaluation of Optimized Setup

2021

In the railway field, the safety of passengers and the service life of train components are a crucial issue. For this reason, continuous periodic inspections by non-destructive techniques are required. Among these, ultrasonic tests are widely used in this field, even though the conventional ultrasound techniques have the disadvantage of requiring the disassembly of the wheels and of putting the train out of service. This procedure is expensive and time-consuming and can be neglected if non-contact ultrasonic techniques are used. In this work, the authors present an experimental research on some defects, artificially obtained on a railway wheel supplied by Trenitalia Spa, by adopting three d…

Defect detectionLaser ultrasonicsService (business)Laser ultrasonicsSettore ING-IND/14 - Progettazione Meccanica E Costruzione Di MacchineComputer scienceService lifeUltrasonic sensorNon-contact ultrasoundConventional ultrasoundField (computer science)Automotive engineeringTrain wheel
researchProduct

Composite Scaffolds with a Hydrohyapatite Spatial Gradient for Osteochondral Defect Repair

2018

Osteochondral defects derived by traumatic injury or aging related disease are often associated with severe joint pain and progressive loss of joint functions for millions of people worldwide and represent a major challenge for the orthopedic community. Tissue engineering offers new therapeutic approach to repair the osteochondral defects, through the production of scaffolds manufactured to mimic their complex architecture, which consists of cartilage and bone layers. Composite scaffolds based on a PLLA polymeric matrix containing hydroxyapatite (HA) as a filler were prepared through a modified thermally induced phase separation (TIPS) protocol. A suspension was prepared by adding sieved HA…

Defect repairMaterials scienceScanning electron microscopeComposite numberEnergy Engineering and Power TechnologyscaffoldIndustrial and Manufacturing EngineeringHydroxyapatite (HA)Poly-L-lactic-acid (PLLA)Tissue engineeringArtificial IntelligencemedicineTissue engineeringPorosityosteochomdral defectInstrumentationchemistry.chemical_classificationTime pathRenewable Energy Sustainability and the EnvironmentCartilageComputer Science Applications1707 Computer Vision and Pattern RecognitionPolymerComputer Networks and Communicationmedicine.anatomical_structurechemistryBiomedical engineering2018 IEEE 4th International Forum on Research and Technology for Society and Industry (RTSI)
researchProduct

Suppression of humoral immune response against herpes simplex virus induced by defective strains, ts- and TK- mutants.

1988

Suppression of humoral antibody formation against HSV is not only induced by replicating Herpes simplex virus type 2 (HSV-2) but also by the defective strain ANG and the deletion mutant 1301 of Herpes simplex virus type 1 (HSV-1). Moreover, ts-mutants A, H, K, S, 1201 and 1208 of HSV-1 as well as some ts-mutants of HSV-2 and “defective-interfering” particles of HSV-1 after high multiplicity of infection-passages induced suppression. Treatment of infected mice with ACG reduced antibody-formation but did not result in suppression. UV-irradiation of the antibody producing strain Len of HSV-1 strongly reduces antibody formation and induces suppression. Experiments using a series of intertypic r…

Deletion mutantGenes ViralvirusesMutantBiologymedicine.disease_causeAntibodies ViralVirus ReplicationGenomeThymidine KinaseMiceImmune systemVirologyViral InterferencemedicineImmune ToleranceAnimalsSimplexvirusRecombination GeneticDefective VirusesGeneral MedicineVirologyHerpes simplex virusHumoral immunityMutationbiology.proteinViral diseaseAntibodyArchives of virology
researchProduct

Charge distribution and optical properties of and F centres in crystals

1997

Results of quantum chemical calculations for the and F centres in cubic and orthorhombic phases of a perovskite ferroelectric are presented and analysed in the light of existing experimental literature. It is shown that one (two) electrons of the and F centres, respectively, are considerably delocalized, even in the ground state of defects, over the two Nb atoms nearest to the O vacancy, and other close atoms. They resemble more electron defects in partly covalent crystals (the so-called centre) than F-type centres in ionic MgO crystals. We predict two or three absorption bands (depending on the crystalline phase) for each of the defects. The calculated absorption energies for the centre ar…

Delocalized electronMaterials scienceVacancy defectIonic bondingCharge densityGeneral Materials ScienceOrthorhombic crystal systemAbsorption (chemistry)Atomic physicsCondensed Matter PhysicsGround statePerovskite (structure)Journal of Physics: Condensed Matter
researchProduct

Paradoxical embolism after a femoral fracture

1998

The foramen ovale is anatomically open in 25 % of individuals, but functionally closed by the higher pressure in the left antrum. Right-to-left shunt and subsequent paradoxical embolism may occur when pressure in the left antrum rises, for example, as a result of pulmonary embolism. In the present case we demonstrate a patient who presented 20 days after osteosynthetic treatment of a femoral fracture with word-finding deficits. Cerebral MRT revealed a fresh ischemic insult. Duplex ultrasound of the legs showed a fresh thrombosis of the superficial femoral vein and scintigraphy of the lungs detected pulmonary embolism. Transesophageal contrast echocardiography trapped a hemodynamically spont…

Diagnostic Imagingmedicine.medical_specialtyDeep veinIschemiaFemoral veinHeart Septal Defects AtrialFracture Fixation InternalPostoperative ComplicationsParadoxical embolismRisk FactorsmedicineHumansOrthopedics and Sports MedicineAgedHip Fracturesbusiness.industryFemoral fractureIntracranial Embolism and ThrombosisThrombophlebitismedicine.diseaseThrombosisPulmonary embolismmedicine.anatomical_structureEmbolismEmergency MedicineFemaleSurgeryRadiologyPulmonary EmbolismbusinessEmbolism ParadoxicalDer Unfallchirurg
researchProduct

An investigation of the spot profiles in transmission electron diffraction from Langmuir-Blodgett films of aliphatic chain compounds

1990

The profiles of the transmission diffraction spots from a Langmuir-Blodgett film of aliphatic chain compound are derived from three plausible models of molecular organisation : a polycrystalline phase with long-range orientational order; a paracrystal possessing a density of point defects which do not interrupt the lattice rows ; and a Nelson and Halperin hexatic smectic phase in the «Debye-Huckel» limit of weakly-interacting dislocations. The three resulting predictions are distinctly different. Experimental results are presented for the room-temperature diffraction patterns from Langmuir-Blodgett films of a lipid, DMPE, and the cadmium soap of a fatty acid, 22-tricosenoic. Only the Nelson…

DiffractionCrystallographyElectron diffractionChemistryLattice (order)MoleculeCrystalliteDislocationCrystallographic defectLangmuir–Blodgett filmJournal de Physique
researchProduct

Using Electron Diffraction to Solve the Crystal Structure of a Laked Azo Pigment

2009

The structure of the ζ phase of Pigment Red 53:2 was solved using electron diffraction data. The unit cell determination appeared to be more complicated due to twinning of the crystals. A series of...

DiffractionCrystallographyReflection high-energy electron diffractionElectron diffractionGas electron diffractionChemistryGeneral Materials ScienceGeneral ChemistryCrystal structureCondensed Matter PhysicsCrystal twinningCrystallographic defectElectron backscatter diffractionCrystal Growth & Design
researchProduct

Defects at the TiO2(100) surface probed by resonant photoelectron diffraction.

2006

We report photoelectron diffraction (PED) experiments of weakly sub-stoichiometric TiO 2 (100) rutile surfaces. Apart from standard core-level PED from the Ti-2p3/2 line, we have studied valence band PED from the defect induced Ti-3d states in the insulating band gap. For maximum yield, the latter were resonantly excited at the Ti-2p absorption edge. The PED patterns have been analyzed within the forward scattering approximation as well as by comparison with simulated PED patterns obtained in multiple scattering calculations. The analysis shows that the defect induced Ti-3d charge is mainly located on the second layer Ti atoms. © 2007 Elsevier B.V. All rights reserved.

DiffractionMaterials scienceScatteringForward scatterBand gapAnalytical chemistry02 engineering and technologySurfaces and Interfaces021001 nanoscience & nanotechnologyCondensed Matter Physics01 natural sciencesMolecular physicsPhotoelectron diffractionResonant photoemissionSurfaces Coatings and FilmsAbsorption edgeRutileExcited state0103 physical sciencesMaterials ChemistryTitanium dioxide010306 general physics0210 nano-technologySurface defectsLine (formation)
researchProduct