2002
Adult-Onset Primary Open-Angle Glaucoma Caused by Mutations in Optineurin
Rezaie T, Child A, Hitchings R, Brice G, Miller L, Coca-Prados M, Héon E, Krupin T, Ritch R, Kreutzer D, Crick RP, Sarfarazi M. Adult-Onset Primary Open-Angle Glaucoma Caused by Mutations in Optineurin. Science 2002, 295: 1077-1079. PMID: 11834836, DOI: 10.1126/science.1066901.Peer-Reviewed Original ResearchMeSH KeywordsAdultAlternative SplicingAmino Acid SequenceBrainCell Cycle ProteinsChromosome MappingChromosomes, Human, Pair 10Ciliary BodyExonsEye ProteinsFemaleGlaucoma, Open-AngleGolgi ApparatusHeterozygoteHumansIntraocular PressureMaleMembrane Transport ProteinsMiddle AgedMutationMutation, MissenseNerve Tissue ProteinsOcular HypertensionPedigreePolymorphism, Single-Stranded ConformationalRetinaTrabecular MeshworkTranscription Factor TFIIIAZinc FingersConceptsPrimary open-angle glaucomaHereditary primary open-angle glaucomaNormal intraocular pressureOpen-angle glaucomaAdult-onset primary open-angle glaucomaNeuroprotective roleIntraocular pressureAngle glaucomaTumor necrosisLeading causeTrabecular meshworkOPTN geneCiliary epitheliumCausative genesGlaucomaChromosome 10p14OptineurinSequence alterationsNecrosisRetinaIndividualsBrainEpithelium
2001
Molecular Evidence That Human Ocular Ciliary Epithelium Expresses Components Involved in Phototransduction
Bertazolli-Filho R, Ghosh S, Huang W, Wollmann G, Coca-Prados M. Molecular Evidence That Human Ocular Ciliary Epithelium Expresses Components Involved in Phototransduction. Biochemical And Biophysical Research Communications 2001, 284: 317-325. PMID: 11394879, DOI: 10.1006/bbrc.2001.4970.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAntibodies, MonoclonalArrestinBlotting, WesternCalcium-Binding ProteinsCattleCell LineCiliary BodyCyclic Nucleotide-Gated Cation ChannelsEpithelial CellsEye ProteinsFluorescent Antibody Technique, IndirectG-Protein-Coupled Receptor Kinase 1HippocalcinHumansImmunoblottingImmunohistochemistryIon ChannelsLight Signal TransductionLipoproteinsNerve Tissue ProteinsPhosphoric Diester HydrolasesProtein KinasesProtein SubunitsRecoverinRetinaReverse Transcriptase Polymerase Chain ReactionRhodopsinRNA, MessengerSequence Analysis, DNATransducinConceptsHuman ocular ciliary epitheliumCiliary epitheliumOcular ciliary epitheliumNPE cellsCiliary epithelial cell linePars plicata regionIntact ciliary epitheliumWestern blot analysisCultured NPE cellsEpithelial cell lineExpression of rhodopsinIndirect immunofluorescenceVisual arrestinHuman retinaMonoclonal antibodiesHuman ciliary epitheliumThree- to fourfoldEpitheliumRT-PCRPhotoreceptor cellsRhodopsin mRNABlot analysisCell linesRetinaRhodopsin kinase