0000000000056340

AUTHOR

Shomi S. Bhattacharya

showing 3 related works from this author

TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein.

2011

et al.

Retinal degenerationUbiquitin-Protein LigasesBiologymedicine.disease_causeRetinaCell Line03 medical and health scienceschemistry.chemical_compoundMiceNuclear proteins0302 clinical medicineIntraflagellar transportGeneticsmedicineBasal bodyAnimalsHumansPhotoreceptor CellsCiliaMolecular BiologyZebrafishGenetics (clinical)Cells CulturedZebrafish030304 developmental biologyCentrosome0303 health sciencesRetinaMutationUbiquitinCiliumRetinal DegenerationNuclear ProteinsRetinalTOPORS proteinGeneral MedicineArticlesmedicine.diseasebiology.organism_classification3. Good healthCell biologyNeoplasm ProteinsProtein Transportmedicine.anatomical_structurechemistryNeoplasm proteinssense organs030217 neurology & neurosurgeryHuman molecular genetics
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Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium.

2012

Myopia is a complex genetic disorder and a common cause of visual impairment among working age adults. Genome-wide association studies have identified susceptibility loci on chromosomes 15q14 and 15q25 in Caucasian populations of European ancestry. Here, we present a confirmation and meta-analysis study in which we assessed whether these two loci are also associated with myopia in other populations. The study population comprised 31 cohorts from the Consortium of Refractive Error and Myopia (CREAM) representing 4 different continents with 55,177 individuals; 42,845 Caucasians and 12,332 Asians. We performed a meta-analysis of 14 single nucleotide polymorphisms (SNPs) on 15q14 and 5 SNPs on …

PopulationLocus (genetics)Genome-wide association studySingle-nucleotide polymorphismBiologyPolymorphism Single Nucleotide03 medical and health sciences0302 clinical medicineMyopiaGeneticsHumansSNPGenetics(clinical)AlleleeducationAllelesGenetics (clinical)Original Investigation030304 developmental biologyGenetic associationGeneticsChromosomes Human Pair 150303 health scienceseducation.field_of_study3. Good healthPhenotype030221 ophthalmology & optometryPopulation studyRE
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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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