0000000000017587

AUTHOR

Sascha Fauser

showing 2 related works from this author

Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration.

2014

Mutations in the FAM161A gene were previously identified as the cause for autosomal-recessive retinitis pigmentosa 28. To study the effects of Fam161a dysfunction in vivo, we generated gene-trapped Fam161a(GT/GT) mice with a disruption of its C-terminal domain essential for protein-protein interactions. We confirmed the absence of the full-length Fam161a protein in the retina of Fam161a(GT/GT) mice using western blots and showed weak expression of a truncated Fam161a protein by immunohistochemistry. Histological analyses demonstrated that photoreceptor segments were disorganized in young Fam161a(GT/GT) mice and that the outer retina was completely lost at 6 months of age. Reactive microglia…

Retinal degenerationMaleOpsinGenotypeVision DisordersAction PotentialsGene ExpressionMice TransgenicRetinal Pigment EpitheliumBiologyRetinaMiceRetinitis pigmentosaGeneticsmedicineAnimalsHumansPhotoreceptor CellsPeripherin 2Eye ProteinsMolecular BiologyGenetics (clinical)Retinal regenerationRetinaGene therapy of the human retinaCiliumRetinal DegenerationGeneral Medicinemedicine.diseaseeye diseasesCell biologyProtein Transportmedicine.anatomical_structureGenetic LociGene TargetingMutationFemalesense organsMicrogliaCarrier ProteinsProtein BindingHuman molecular genetics
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Prevalence of Age-Related Macular Degeneration in Europe

2017

Manuscript no. 2016-1147 Supplemental material is available at www.aaojournal.org/; International audience; [u]Purpose:[/u] Age-related macular degeneration (AMD) is a frequent, complex disorder in elderly of European ancestry. Risk profiles and treatment options have changed considerably over the years, which may have affected disease prevalence and outcome. We determined the prevalence of early and late AMD in Europe from 1990 to 2013 using the European Eye Epidemiology (E3) consortium, and made projections for the future. [u]Design:[/u] Meta-analysis of prevalence data. [u]Participants:[/u] A total of 42 080 individuals 40 years of age and older participating in 14 population-based cohor…

0301 basic medicinemedicine.medical_specialtyVisual acuityOPTICAL COHERENCE TOMOGRAPHYMACULOPATHYgenetic structuresPopulationPrevalenceHEART-DISEASEchoroidal neovascularizationSensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]03 medical and health sciencesRotterdam Study0302 clinical medicineAll institutes and research themes of the Radboud University Medical CenterBEAVER DAM EYEEpidemiologygeographic atrophymedicineVISUAL IMPAIRMENT[SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory OrganseducationPOPULATIONeducation.field_of_studyBIRTH COHORTbusiness.industryMacular degenerationmedicine.diseaseTRENDSConfidence intervaleye diseases3. Good healthEuropean Prospective Investigation into Cancer and NutritionOphthalmology030104 developmental biologyAge-related Macular DegenerationENDOTHELIAL GROWTH-FACTORBLINDNESS030221 ophthalmology & optometryOptometryAge-related Macular Degeneration choroidal neovascularization geographic atrophysense organsmedicine.symptombusiness[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyDemography
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