Search results for "DEFECTS"

showing 10 items of 339 documents

Perlecan Maintains microvessel integrity in vivo and modulates their formation in vitro

2012

Perlecan is a heparan sulfate proteoglycan assembled into the vascular basement membranes (BMs) during vasculogenesis. In the present study we have investigated vessel formation in mice, teratomas and embryoid bodies (EBs) in the absence of perlecan. We found that perlecan was dispensable for blood vessel formation and maturation until embryonic day (E) 12.5. At later stages of development 40% of mutant embryos showed dilated microvessels in brain and skin, which ruptured and led to severe bleedings. Surprisingly, teratomas derived from perlecan-null ES cells showed efficient contribution of perlecan-deficient endothelial cells to an apparently normal tumor vasculature. However, in perlecan…

IntegrinsAnatomy and PhysiologyGlycobiologylcsh:MedicineCardiovascularurologic and male genital diseasesCardiovascular SystemBiochemistryBiotecnologiaBasement MembraneMicePregnancyMolecular Cell BiologyMorphogenesisHistochemistrylcsh:ScienceSkinMice KnockoutPeripheral Vascular DiseasesExtracellular Matrix ProteinsNeovascularization PathologicTeratomaProteïnes de membranaBrainCell DifferentiationExtracellular MatrixConnective TissueCytochemistryMedicineFemaleFibroblast Growth Factor 2ProteoglycansResearch Articleendocrine systemMice 129 StrainCèl·lulesNeovascularization PhysiologicCell MigrationGrowth FactorsCell AdhesionAnimalsBirth DefectsBiologyExtracellular Matrix AdhesionsEmbryoid BodiesEmbryonic Stem Cellslcsh:RfungiProteinsExtracellular Matrix CompositionMice Inbred C57BLcarbohydrates (lipids)Cancer and OncologyMicrovesselsCardiovascular Anatomylcsh:QHeparan Sulfate ProteoglycansDevelopmental Biology
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Electronic properties and mobile defects distribution in amorphous semiconducting passive films

2003

A study of the electronic properties of thin (drop 25 nm) a-WO3 and a-Nb2O5 is presented. Based on theory of amorphous semiconductor Schottky barrier the fitting of admittance curves in a large range of electrode potential (around 9 V) and a.c. frequency (100 Hz - 10 kHz) is performed. A density of electronic state distribution (DOS) is derived, which mimics the mobile defects distribution suggested by the classical high field model of oxides growth.

Kinetic growth studieMott-Schottky theorySettore ING-IND/23 - Chimica Fisica ApplicataMobile defects distributionPassive films
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Influence of Ce codoping and H2 pre-loading on Er/Yb-doped fiber: Radiation response characterized by Confocal Micro-Luminescence

2011

International audience; Confocal microscopy luminescence measurements were applied to study the X-ray radiation response of Er/Yb-doped optical fibers in connection with H2 pre-loading and with the addition of another lanthanide element (Cerium) in the core composition. Laser excitations at 488 nm and 325 nm allow deriving the emission and absorption pattern of Er3+, the latter derived from the dips appearing in a wide luminescence band related to defects in silica. We found that the luminescence spectrum of the X-irradiated Er/Yb-doped core fiber evidences an increase in the emission intensity around 520 and 660 nm; in contrast, no changes are induced by radiation neither after H2 pre-load…

LanthanideMaterials sciencePhotoluminescenceOptical fiberOptica fiber; Er/Yb doping; Ce doping; confocal micro-luminescencechemistry.chemical_elementlaw.inventionOpticsMicro-luminescencelawRare earthMaterials ChemistryEr/Yb dopingFiberAbsorption (electromagnetic radiation)Ce dopingconfocal micro-luminescence[PHYS.PHYS.PHYS-OPTICS]Physics [physics]/Physics [physics]/Optics [physics.optics]business.industrySilicaErbium doped fibersCondensed Matter PhysicsLaserOptica fiberElectronic Optical and Magnetic MaterialsCeriumchemistryCeramics and CompositesOptoelectronicsDefectsLuminescencebusiness
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Radiācijas defektu pētījumi ar EPR metodi LiBaF3 kristālā

2004

Izpētīts ar rentgenu istabas temperatūrā apstarotā L i B a F 3 kristālā radīta defekta EPR spektrs. EPR spektrs sastāv no apmēram 35 ekvidistantām līnijām. Defekts ir nestabils Jienas gaismā, bet tumsā sabrūk dažu stundu laikā. Šīs līnijas magnētiskā lauka orientācijā mralēli [111] kristāla asij atrodas vienādos attālumos (ar soli 0,9 mT) ar intensitāšu sadalījumu tuvu binomiālajam. EPR spektru var aprakstīt kā nesapārota spina S = 1/2 hiper- >īkstruktūras (liss) mijiedarbību ar divām ekvivalentu kaimiņu kodolu spinu grupām: 2 Li kodoliem pirmajā grupā un 8 F kodoliem otrajā grupā. Šāds modelis atbilst F-tipa centram elektrons atrodas fluora vakancē) LiBaF3 kristālā. Līniju intensitāšu stip…

LiBaF3 kristāliLiBaF3 crystalsCietvielu fizika:NATURAL SCIENCES::Physics::Atomic and molecular physics [Research Subject Categories]Elektronu paramagnētiskā rezonanseRadiācijas defektiElektronu spinu rezonanseElectron paramagnetic resonanceEPR spektroskopijaRadiation defectsElectron paramagnetic resonance spectroscopy
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Association of ADHD with genetic variants in the 5'-region of the dopamine transporter gene: evidence for allelic heterogeneity.

2008

Contains fulltext : 69953.pdf (Publisher’s version ) (Closed access) Multiple studies have reported an association between attention deficit hyperactivity disorder (ADHD) and the 10-repeat allele of a variable number tandem repeat (VNTR) polymorphism in the 3'-untranslated region (3'UTR) of the dopamine transporter gene (DAT1). Yet, recent meta-analyses of available data find little or no evidence for this association; although there is strong evidence for heterogeneity between datasets. This pattern of findings could arise for several reasons including the presence of relatively rare risk alleles on common haplotype backgrounds or the functional interaction of two or more loci within the g…

Linkage disequilibriumGenetics and epigenetic pathways of disease [NCMLS 6]Medizin2804 Cellular and Molecular NeuroscienceNeuroinformatics [DCN 3]Linkage Disequilibrium2738 Psychiatry and Mental Health0302 clinical medicineGene FrequencyRisk FactorsPerception and Action [DCN 1]Genetics(clinical)Promoter Regions GeneticGenetics (clinical)Genetics0303 health sciences10058 Department of Child and Adolescent PsychiatryEuropeVariable number tandem repeatPsychiatry and Mental health/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingAllelic heterogeneityFunctional Neurogenomics [DCN 2]Genetic Markers2716 Genetics (clinical)Single-nucleotide polymorphism610 Medicine & healthBiologyPolymorphism Single NucleotideMental health [NCEBP 9]White PeopleGenomic disorders and inherited multi-system disorders [IGMD 3]Genetic Heterogeneity03 medical and health sciencesCellular and Molecular NeuroscienceSDG 3 - Good Health and Well-beingCognitive neurosciences [UMCN 3.2]Humansddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersAlleleAllele frequencyAlleles030304 developmental biologyDopamine Plasma Membrane Transport ProteinsGenetic heterogeneityHaplotypeGenetic VariationHaplotypesGenetic defects of metabolism [UMCN 5.1]Attention Deficit Disorder with Hyperactivity5' Untranslated Regions030217 neurology & neurosurgeryMicrosatellite Repeats
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An assesment of body posture of children aged 3-6 years

2019

Background: A posture defect may be defined as a syndrome of abnormalities occurring in a relaxed upright position of the body. Deviations from the typical body shape are specific for given age and gender. Life determinants and social situation have a very significant impact on the development of body posture in young people. Aim of the study: The aim of the study was to analyse the occurrence of spinal defects in children aged 3–6 years. Material and methods: The study included 75 children aged 3–6 years. The children were examined for spinal defects using the MORA computer system. Results: Boys in the study showed a correlation between height and the inclination of the upper thoracic segm…

MORA systemmedicine.medical_specialtyanthropometrychildrenBody posturePhysical therapymedicineposture defectsspinal defectsMedical Science Pulse
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Temperature and concentration effects on supramolecular aggregation and phase behavior for poly(propylene oxide)–b-poly(ethylene oxide) –b-poly(propy…

2011

The micro- and mesoscopic structure of reverse Pluronic 25R4 in aqueous mixtures has been studied by SANS, SAXS and shear rheology. These techniques have been able to give a deep insight into the complex structure of the system phase diagram, that includes an isotropic water-rich liquid phase L(1), and liquid crystalline phases with hexagonal, E, or lamellar order, D. Particular attention has been paid to the isotropic water-rich phase L(1), which has a large stability region in the temperature-composition phase diagram. This region is crossed by a large "cloudy zone". Below it, namely at low temperature and composition, SANS data show the presence of polymer unimers in a gaussian coil conf…

Macromolecular SubstancesSurface PropertiesTemperatureWaternanoaggregateReverse Pluronic Lyotropic Phases Micellar Aggregates Defects Packed Vesciclesphase diagramPolyethylene GlycolsSurfaces Coatings and FilmsElectronic Optical and Magnetic MaterialsBiomaterialsColloid and Surface Chemistryco-block polymerPropylene GlycolsSettore CHIM/02 - Chimica Fisica
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Topological–chiral magnetic interactions driven by emergent orbital magnetism

2019

Two hundred years ago, Ampère discovered that electric loops in which currents of electrons are generated by a penetrating magnetic field can mutually interact. Here we show that Ampère’s observation can be transferred to the quantum realm of interactions between triangular plaquettes of spins on a lattice, where the electrical currents at the atomic scale are associated with the orbital motion of electrons in response to the non-coplanarity of neighbouring spins playing the role of a magnetic field. The resulting topological orbital moment underlies the relation of the orbital dynamics with the topology of the spin structure. We demonstrate that the interactions of the topological orbital …

Magnetic properties and materialsScienceQFerromagnetismCondensed Matter::Strongly Correlated Electronslcsh:Qddc:500Astrophysics::Earth and Planetary Astrophysicslcsh:ScienceArticleTopological defectsNature Communications
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WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

2018

International audience; Locus heterogeneity characterizes a variety of skeletal dysplasias often due to interacting or overlapping signaling pathways. Robinow syndrome is a skeletal disorder historically refractory to molecular diagnosis, potentially stemming from substantial genetic heterogeneity. All current known pathogenic variants reside in genes within the noncanonical Wnt signaling pathway including ROR2, WNT5A, and more recently, DVL1 and DVL3. However, ∼70% of autosomal-dominant Robinow syndrome cases remain molecularly unsolved. To investigate this missing heritability, we recruited 21 families with at least one family member clinically diagnosed with Robinow or Robinow-like pheno…

Male0301 basic medicineCandidate geneFrizzledGROWTH-PLATEDEP DOMAINlnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4]PROTEINskeletal dysplasiaCraniofacial Abnormalities0302 clinical medicineLocus heterogeneityChromosome SegregationChild[ SDV.GEN.GH ] Life Sciences [q-bio]/Genetics/Human geneticsWnt Signaling PathwayGenetics (clinical)Genes DominantGeneticsWnt signaling pathwayMiddle AgedRobinow syndromeMENDELIAN-INHERITANCEPhenotypeChild PreschoolFemaleNEURAL-TUBE DEFECTSVERTEBRATE GASTRULATIONhuman embryonic developmentRare cancers Radboud Institute for Health Sciences [Radboudumc 9]AdultAdolescentCELL POLARITYLimb Deformities CongenitalMutation MissenseDwarfismBiologyArticledual molecular diagnosisDiagnosis DifferentialGenetic Heterogeneity03 medical and health sciencesFrizzledAll institutes and research themes of the Radboud University Medical CenterSkeletal disorderGeneticsmedicineHumansGenetic Association StudiesNeurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]Base SequenceGenetic heterogeneityMUTATIONSROR2medicine.diseaseDROSOPHILA TISSUE POLARITY030104 developmental biology[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsUrogenital AbnormalitiesAUTOSOMAL-DOMINANT030217 neurology & neurosurgery
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Cerebroarthrodigital syndrome: A newly recognized formal genesis syndrome in three patients with apparent arthromyodysplasia and sacral agenesis, bra…

1980

We describe three patients with a complex syndrome of apparent arthromyodysplasia, dyscephaly, sacral agenesis, and hypoplastic digitis. Cause is unknown, but an environmental cause is suspected on the basis of ergotamine exposure in one case and diazoxide intake in another, together with suggestive similarities to anomalies seen in animals treated with these drugs and to calves with the Australian hydranencephaly/arthrogryposis syndrome caused by Akebane or Aino virus. Pathogenetically the primary defect may be a neural tube-neural crest dysplasia with multiple secondary and tertiary manifestations and deformities.

Male2716 Genetics (clinical)medicine.medical_specialtyMicrocephalyPathology10039 Institute of Medical Genetics610 Medicine & healthHydranencephalySacral Agenesisaino virusarthromyodysplasia1311 GeneticsInternal medicineErgotaminemedicineHumansmicrocephalyNeural Tube Defectsformal genesis syndromeGenetics (clinical)ArthrogryposisArthrogryposisBone Diseases Developmentaldigital hypoplasiabusiness.industryDiazoxideInfant NewbornBrainakebane virusSyndromemedicine.diseaseHypoplasiahydrocephalyEndocrinology10036 Medical ClinicDysplasiaErgotamine570 Life sciences; biologyFemaleCrestsacral agenesismedicine.symptombusinessHydrocephalusmedicine.drugAmerican Journal of Medical Genetics
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