Search results for "Retina"

showing 10 items of 864 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
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Analysis of the Ush2a Gene in Medaka Fish (Oryzias latipes)

2013

Patients suffering from Usher syndrome (USH) exhibit sensorineural hearing loss, retinitis pigmentosa (RP) and, in some cases, vestibular dysfunction. USH is the most common genetic disorder affecting hearing and vision and is included in a group of hereditary pathologies associated with defects in ciliary function known as ciliopathies. This syndrome is clinically classified into three types: USH1, USH2 and USH3. USH2 accounts for well over one-half of all Usher cases and mutations in the USH2A gene are responsible for the majority of USH2 cases, but also for atypical Usher syndrome and recessive non-syndromic RP. Because medaka fish (Oryzias latypes) is an attractive model organism for ge…

DNA ComplementaryEmbryo NonmammalianTime FactorsUsher syndromeOryziasved/biology.organism_classification_rank.speciesMolecular Sequence DataOryziaslcsh:MedicineCiliopathiesRetinaMorpholinosEvolution MolecularRetinitis pigmentosamedicineotorhinolaryngologic diseasesAnimalsHumansAmino Acid SequenceModel organismlcsh:ScienceZebrafishIn Situ HybridizationRegulation of gene expressionGeneticsExtracellular Matrix ProteinsMultidisciplinarybiologyved/biologylcsh:RGenetic disorderGene Expression Regulation Developmentalmedicine.diseasebiology.organism_classificationPhenotypeEar Innerlcsh:Qsense organsResearch ArticlePLoS ONE
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Divergent Distribution in Vascular and Avascular Mammalian Retinae Links Neuroglobin to Cellular Respiration

2005

The visual function of the vertebrate retina relies on sufficient supply with oxygen. Neuroglobin is a respiratory protein thought to play an essential role in oxygen homeostasis of neuronal cells. For further understanding of its function, we compared the distribution of neuroglobin and mitochondria in both vascular and avascular mammalian retinae. In the vascular retinae of mouse and rat, oxygen is supplied by the outer choroidal, deep retinal, and inner capillaries. We show that in this type of retina, mitochondria are concentrated in the inner segments of photoreceptor cells, the outer and the inner plexiform layers, and the ganglion cell layer. These are the same regions in which oxyge…

DNA Complementarygenetic structuresGuinea PigsMolecular Sequence DataRespiratory chainNeuroglobinNerve Tissue ProteinsMitochondrionBiologyBiochemistryRetinaMicechemistry.chemical_compoundOxygen ConsumptionOxygen homeostasismedicineAnimalsPhotoreceptor CellsTissue DistributionAmino Acid SequenceCloning MolecularMolecular BiologyGanglion cell layerMice Inbred BALB CRetinaChoroidAntibodies MonoclonalCytochromes cRetinal VesselsRetinalCell BiologyAnatomyImmunohistochemistryeye diseasesCapillariesGlobinsMitochondriaRatsCell biologyRespiratory proteinmedicine.anatomical_structurechemistryNeuroglobinsense organsSequence AlignmentJournal of Biological Chemistry
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Novel σ1 antagonists designed for tumor therapy: Structure – activity relationships of aminoethyl substituted cyclohexanes

2021

Abstract Depending on the substitution pattern and stereochemistry, 1,3-dioxanes 1 with an aminoethyl moiety in 4-position represent potent σ1 receptor antagonists. In order to increase the stability, a cyclohexane ring first replaced the acetalic 1, 3-dioxane ring of 1. A large set of aminoethyl substituted cyclohexane derivatives was prepared in a six-step synthesis. All enantiomers and diastereomers were separated by chiral HPLC at the stage of the primary alcohol 7, and their absolute configuration was determined by CD spectroscopy. Neither the relative nor the absolute configuration had a large impact on the σ1 affinity. The highest σ1 affinity was found for cis-configured benzylamines…

DU145 tumor cellsCachannelPrimary alcohol01 natural sciencesAminoethylcyclohexanes; Antagonistic activity; Biotransformation; Ca; 2+; influx assay; Calculated free energy of binding; CD spectroscopy; Chiral HPLC; DU145 tumor cells; Inhibition of human prostate tumor cell growth; Lipophilicity; Molecular dynamics simulations; Molecular interactions; per-residue binding free energy; Selectivity; Stereochemistry; Structure affinity relationships; Voltage gated Ca; 2+; channel; σ receptors; σ; 1; receptor affinityInhibition of human prostate tumor cell growthStereochemistryDrug DiscoveryMoietySelectivityBiotransformationσ receptor0303 health sciencesChemistryAminoethylcyclohexanesCD spectroscopyAbsolute configurationAminoethylcyclohexaneMolecular interactionGeneral MedicineAntagonistic activityper-residue binding free energyreceptor affinityLipophilicityVoltage gated CaStereochemistry12+Calculated free energy of bindingRetinal ganglion03 medical and health sciencesσMolecular dynamics simulationChiral HPLCLipophilicityMolecular interactionsStructure affinity relationship030304 developmental biologyPharmacologyDU145 tumor cellinflux assayMolecular dynamics simulations010405 organic chemistryOrganic ChemistryDiastereomer0104 chemical sciencesChiral column chromatographyσ receptorsStructure affinity relationshipsEnantiomerEuropean Journal of Medicinal Chemistry
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FABC: Retinal Vessel Segmentation Using AdaBoost

2010

This paper presents a method for automated vessel segmentation in retinal images. For each pixel in the field of view of the image, a 41-D feature vector is constructed, encoding information on the local intensity structure, spatial properties, and geometry at multiple scales. An AdaBoost classifier is trained on 789 914 gold standard examples of vessel and nonvessel pixels, then used for classifying previously unseen images. The algorithm was tested on the public digital retinal images for vessel extraction (DRIVE) set, frequently used in the literature and consisting of 40 manually labeled images with gold standard. Results were compared experimentally with those of eight algorithms as we…

Databases FactualComputer scienceFeature vectorFeature extractionNormal DistributionComputingMethodologies_IMAGEPROCESSINGANDCOMPUTERVISIONImage processingModels BiologicalEdge detectionArtificial IntelligenceImage Processing Computer-AssistedHumansSegmentationComputer visionAdaBoostFluorescein AngiographyElectrical and Electronic EngineeringTraining setPixelContextual image classificationSettore INF/01 - Informaticabusiness.industryReproducibility of ResultsRetinal VesselsWavelet transformBayes TheoremPattern recognitionGeneral MedicineImage segmentationComputer Science ApplicationsComputingMethodologies_PATTERNRECOGNITIONROC CurveTest setAdaBoost classifier retinal images vessel segmentationArtificial intelligencebusinessAlgorithmsBiotechnology
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Agreement among 3 optical imaging methods for the assessment of optic disc topography.

2005

Purpose To assess the agreement of disc topography measurements between the Heidelberg Retina Tomograph (HRT II), Retinal Thickness Analyzer (RTA), and Optical Coherence Tomograph (StratusOCT). Design Observational cross-sectional study. Participants Forty-two randomly chosen eyes of 42 subjects. Methods Each subject underwent HRT II, RTA, and StratusOCT examination. Two experienced examiners drew the contour lines for the HRT II and RTA. Bland and Altman plots were used to evaluate agreement for each topographic parameter among the instruments. The Spearman coefficient of rank correlation was evaluated for each topographic parameter. Main Outcome Measures Agreement in the measurement of op…

Diagnostic ImagingMaleRetinal Ganglion Cellsmedicine.medical_specialtygenetic structuresOptic DiskGlaucomaSpearman's rank correlation coefficientRetinal thickness analyzerOptical imagingNerve FibersOphthalmologyLinear regressionOptic Nerve DiseasesMedicineHumansIntraocular PressureRank correlationAgedRetrospective Studiesbusiness.industryReproducibility of ResultsMiddle Agedmedicine.diseaseeye diseasesOphthalmologymedicine.anatomical_structureCross-Sectional StudiesFemalesense organsTomographybusinessGlaucoma Open-AngleOptic discOphthalmology
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Reduction of red-green discrimination by dopamine D1 receptor antagonists and retinal dopamine depletion

1996

AbstractReduction of wavelength discrimination ability in the 560–640 nm range, but not in the 404–540 nm range, has been demonstrated in goldfish after intravitreal injection of D1-dopamine receptor antagonists. Intravitreal injection of the dopaminergic neurotoxin 6-OH-dopamine severely reduced wavelength discrimination ability in the 540–661 nm range within 3 days. Discrimination ability could be reconstituted by the Dl-agonist SKF 38393. Animals recovered from injection of 6-OH-dopamine within 14–16 days. No change of wavelength discrimination was induced by 6-OH-dopamine in the 461–540 nm range. We conclude that under photopic conditions dopamine modulates retinal mechanisms involved i…

DopamineWavelength discriminationRetinaHydroxydopamineschemistry.chemical_compoundDiscrimination PsychologicalDopamine receptor D1OpticsDopamineGoldfishmedicineAnimalsNeurotoxinDopamine receptorsNeurotransmitterRetinabusiness.industryReceptors Dopamine D1DopaminergicRetinalSensory SystemsOphthalmologymedicine.anatomical_structurechemistryDopamine receptorDopamine AgonistsBiophysicssense organsbusinessColor Perceptionmedicine.drugVision Research
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Combined treatment of epidermodysplasia verruciformis with etretinate and α-interferon*

1992

Epidermodysplasia verruciformis (EV) is an uncommon cutaneous disease in which a focal and genetically determined immunological impairment is associated with chronic human papilloma virus (HPV) infection. In sun-exposed areas, when an oncogenic HPV type is the agent, skin cancer may occur. The treatment of EV is difficult and often unsatisfactory; etretinate has been reported in some instances as effective in improving lesions. We report a typical case of EV with pityriasis versicolor-like lesions on the trunk and many flat, erythematous wart-like lesions on the face, dorsal areas of the hands and legs. We performed a treatment with etretinate (1 mg/kg/day for 6 weeks) and subsequently with…

Dorsummedicine.medical_specialtyα interferonHpv typesbusiness.industryEtretinateDermatologyEpidermodysplasia verruciformisPityriasismedicine.diseaseDermatologyInfectious DiseasesCombined treatmentMedicineSkin cancerbusinessmedicine.drugJournal of the European Academy of Dermatology and Venereology
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Q fever: a new ocular manifestation

2011

P Udaondo1,3, S Garcia-Delpech1,2, D Salom1,2, M Garcia-Pous1, M Diaz-Llopis1,21Department of Ophthalmology, Nuevo Hospital Universitario y Politecnico La Fe, Valencia, Spain; 2Faculty of Medicine, Universitat de València, Valencia, Spain; 3Universidad Cardenal Herrera CEU, Valencia, SpainAbstract: Q Fever is a zoonosis caused by Coxiella burnetii. Ocular manifestations are rare in this infection. We describe the case of a man complaining of an intense retro-orbital headache, fever, arthralgia, and bilateral loss of vision, who showed an anterior uveitis accompanied by exudative bilateral inferior retinal detachment and optic disk edema. At the beginning, a Vogt–Koyanag…

Doxycyclineexudative retinal detachmentmedicine.medical_specialtybiologyVkh syndromebusiness.industryPanuveitispanuveitisRetinal detachmentQ feverCase ReportExudative retinal detachmentRE1-994Coxiella burnetiibiology.organism_classificationmedicine.diseaseVogt-Koyanagi-Harada syndromeComplete resolutioneye diseasesOphthalmologyOphthalmologymedicinebusinessQ fevermedicine.drugClinical Ophthalmology
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Novel inulin-based mucoadhesive micelles loaded with corticosteroids as potential transcorneal permeation enhancers

2017

In this work a new copolymer of inulin (INU) derivatized with ethylendiamine (EDA) and retinoic acid (RA), named INU-EDA-RA, was synthetized, characterized and employed to produce micelles as carriers for topical administration of corticosteroids for the potential treatment of diseases of posterior eye segment. Spectroscopic analysis confirmed a molar derivatization degree of 11.30 and 4.30% in EDA and RA, respectively. INU-EDA-RA micelles are capable of strong mucoadhesive interactions which result time-independent and stable over time but concentration depending. Moreover micelles are able to encapsulate efficiently from 3 to 13% (w/w) of lipophilic drugs, as dexamethasone, triamcinolone …

DrugTriamcinolone acetonideTranscorneal enhancerCell SurvivalSwineAdministration Topicalmedia_common.quotation_subjectTranswellPharmaceutical ScienceMucoadhesionRetinal Pigment Epithelium02 engineering and technologyOcular disease030226 pharmacology & pharmacyMicellePermeabilityCorneaMice03 medical and health sciences0302 clinical medicineAdrenal Cortex HormonesPolymeric micelleRetinoic acidCell AdhesionMucoadhesionmedicineCorticosteroidAnimalsHumansDissolution testingOcular topical administrationMicellesmedia_commonDrug CarriersChromatographyDose-Response Relationship DrugChemistryInulinGeneral Medicine021001 nanoscience & nanotechnologyPermeability (electromagnetism)Cattle0210 nano-technologyDrug carrierDrug metabolismBiotechnologymedicine.drugEuropean Journal of Pharmaceutics and Biopharmaceutics
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