2007
Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucoma.
López-Martínez F, López-Garrido M, Sánchez-Sánchez F, Campos-Mollo E, Coca-Prados M, Escribano J. Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucoma. Molecular Vision 2007, 13: 862-72. PMID: 17615537, PMCID: PMC2770203.Peer-Reviewed Original ResearchMeSH KeywordsAge of OnsetAmino Acid SequenceCell Cycle ProteinsCell LineCytoskeletal ProteinsExonsEye ProteinsFemaleGene FrequencyGenome, HumanGlaucoma, Open-AngleGlycoproteinsHaplotypesHumansLinkage DisequilibriumMaleMembrane Transport ProteinsMiddle AgedMolecular Sequence DataMutationOcular HypertensionOpen Reading FramesPhenotypePolymorphism, Single-Stranded ConformationalPromoter Regions, GeneticSpainTranscription Factor TFIIIAWhite PeopleConceptsPrimary open-angle glaucomaOcular hypertensionOpen-angle glaucomaPOAG patientsSpanish patientsSequence variationExons of myocilinHeterozygous disease-causing mutationsPathogenic mutationsSingle nucleotide polymorphismsPromoter regionRole of myocilinDNA sequence variationPolymorphic GT microsatelliteCommon single nucleotide polymorphismsPCR-DNA sequencingT cellsComplete coding regionPatientsUnrelated patientsMYOC geneOPTN geneGlaucomaDisease-causing mutationsGT microsatellite
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