2011
WDR36 and P53 Gene Variants and Susceptibility to Primary Open-Angle Glaucoma: Analysis of Gene-Gene Interactions
Blanco-Marchite C, Sánchez-Sánchez F, López-Garrido MP, Iñigez-de-Onzoño M, López-Martínez F, López-Sánchez E, Alvarez L, Rodríguez-Calvo PP, Méndez-Hernández C, Fernández-Vega L, García-Sánchez J, Coca-Prados M, García-Feijoo J, Escribano J. WDR36 and P53 Gene Variants and Susceptibility to Primary Open-Angle Glaucoma: Analysis of Gene-Gene Interactions. Investigative Ophthalmology & Visual Science 2011, 52: 8467-8478. PMID: 21931130, PMCID: PMC3208188, DOI: 10.1167/iovs.11-7489.Peer-Reviewed Original ResearchAgedAmino Acid SequenceBase SequenceCase-Control StudiesChromatography, High Pressure LiquidDNA Mutational AnalysisEpistasis, GeneticEye ProteinsFemaleGenetic Predisposition to DiseaseGenetic VariationGenotypeGlaucoma, Open-AngleHumansIntraocular PressureMaleMiddle AgedMolecular Sequence DataOcular HypertensionPolymerase Chain ReactionPolymorphism, Single NucleotideRegulatory Sequences, Nucleic AcidRisk FactorsSequence Analysis, DNATumor Suppressor Protein p53
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
2006
Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma.
López-Garrido MP, Sánchez-Sánchez F, López-Martínez F, Aroca-Aguilar JD, Blanco-Marchite C, Coca-Prados M, Escribano J. Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma. Molecular Vision 2006, 12: 748-55. PMID: 16862072.Peer-Reviewed Original ResearchMeSH KeywordsAgedAmino Acid SubstitutionAryl Hydrocarbon HydroxylasesCase-Control StudiesConserved SequenceCytochrome P-450 CYP1B1Cytochrome P-450 Enzyme SystemFemaleGene FrequencyGenetic Predisposition to DiseaseGenotypeGlaucoma, Open-AngleHeterozygoteHumansMaleMiddle AgedMutationMutation, MissenseOcular HypertensionPhenotypeSpainConceptsPrimary open-angle glaucomaOcular hypertensionOpen-angle glaucomaCYP1B1 gene mutationsGlaucoma patientsSpanish patientsDevelopment of POAGGene mutationsUnrelated Spanish subjectsOHT subjectsPCR-DNA sequencingPOAG patientsAngle glaucomaPatientsCYP1B1 mutationsGlaucomaSpanish populationSpanish subjectsMissense mutationsDifferent mutationsSignificant changesAmino acid substitutionsSubjectsMutationsAcid substitutions
2003
Inhibition of 11β-hydroxysteroid dehydrogenase type 1 lowers intraocular pressure in patients with ocular hypertension
Rauz S, Cheung C, Wood P, Coca-Prados M, Walker E, Murray P, Stewart P. Inhibition of 11β-hydroxysteroid dehydrogenase type 1 lowers intraocular pressure in patients with ocular hypertension. QJM 2003, 96: 481-490. PMID: 12881590, DOI: 10.1093/qjmed/hcg085.Peer-Reviewed Original ResearchMeSH Keywords11-beta-Hydroxysteroid Dehydrogenase Type 2AgedAqueous HumorCarbenoxoloneCortisoneDouble-Blind MethodEnzyme InhibitorsFemaleHumansHydrocortisoneHydroxysteroid DehydrogenasesIntraocular PressureMaleMineralocorticoid Receptor AntagonistsOcular HypertensionProspective StudiesReceptors, GlucocorticoidConceptsPrimary open-angle glaucomaIntraocular pressureCiliary body tissueOcular hypertensionHealthy volunteersCiliary epitheliumPlacebo-controlled studyOpen-angle glaucomaUrinary cortisol metabolitesAge-matched controlsHuman anterior segmentsDehydrogenase type 1Aqueous humor productionTopical inhibitorsBody tissuesPOAG patientsProspective studyClinical trialsMineralocorticoid receptorCBX administrationAnterior segmentNovel treatmentsPatientsGreater fallCortisone concentrations
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