2021
Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye
Partnership T, Li Z, Wang Z, Lee M, Zenkel M, Peh E, Ozaki M, Topouzis F, Nakano S, Chan A, Chen S, Williams S, Orr A, Nakano M, Kobakhidze N, Zarnowski T, Popa-Cherecheanu A, Mizoguchi T, Manabe S, Hayashi K, Kazama S, Inoue K, Mori Y, Miyata K, Sugiyama K, Higashide T, Chihara E, Ideta R, Ishiko S, Yoshida A, Tokumo K, Kiuchi Y, Ohashi T, Sakurai T, Sugimoto T, Chuman H, Aihara M, Inatani M, Mori K, Ikeda Y, Ueno M, Gaston D, Rafuse P, Shuba L, Saunders J, Nicolela M, Chichua G, Tabagari S, Founti P, Sim K, Meah W, Soo H, Chen X, Chatzikyriakidou A, Keskini C, Pappas T, Anastasopoulos E, Lambropoulos A, Panagiotou E, Mikropoulos D, Kosior-Jarecka E, Cheong A, Li Y, Lukasik U, Nongpiur M, Husain R, Perera S, Álvarez L, García M, González-Iglesias H, Cueto A, Cueto L, Martinón-Torres F, Salas A, Oguz Ç, Tamcelik N, Atalay E, Batu B, Irkec M, Aktas D, Kasım B, Astakhov Y, Astakhov S, Akopov E, Giessl A, Mardin C, Hellerbrand C, Bailey J, Igo R, Haines J, Edward D, Heegaard S, Davila S, Tan P, Kang J, Pasquale L, Kruse F, Reis A, Carmichael T, Hauser M, Ramsay M, Mossböck G, Yildirim N, Tashiro K, Konstas A, Coca-Prados M, Foo J, Kinoshita S, Sotozono C, Kubota T, Dubina M, Ritch R, Wiggs J, Pasutto F, Schlötzer-Schrehardt U, Ho Y, Aung T, Tam W, Khor C. Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye. JAMA 2021, 325: 753-764. PMID: 33620406, PMCID: PMC7903258, DOI: 10.1001/jama.2021.0507.Peer-Reviewed Original ResearchConceptsExfoliation syndromeValidation cohortDiscovery cohortAnterior chamberImpair protein functionFirst validation cohortSecond validation cohortSlit-lamp examinationCase-control studyAnterior segment structuresCauses of glaucomaCiliary body tissueSecondary outcomesPrimary outcomeLamp examinationSystemic disordersIrreversible blindnessMAIN OUTCOMEIndependent cohortExfoliation materialProtein-changing variantsSyndromeClinical implicationsCohortStudy participants
2020
Role of GUCA1C in Primary Congenital Glaucoma and in the Retina: Functional Evaluation in Zebrafish
Morales-Cámara S, Alexandre-Moreno S, Bonet-Fernández J, Atienzar-Aroca R, Aroca-Aguilar J, Ferre-Fernández J, Méndez C, Morales L, Fernández-Sánchez L, Cuenca N, Coca-Prados M, Martínez-de-la-Casa J, Garcia-Feijoo J, Escribano J. Role of GUCA1C in Primary Congenital Glaucoma and in the Retina: Functional Evaluation in Zebrafish. Genes 2020, 11: 550. PMID: 32422965, PMCID: PMC7288452, DOI: 10.3390/genes11050550.Peer-Reviewed Original ResearchMeSH KeywordsAdultAmino Acid SequenceAnimalsApoptosisBase SequenceCRISPR-Cas SystemsFemaleGene EditingGene Knockout TechniquesGlaucomaGliosisGuanylate Cyclase-Activating ProteinsHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedPedigreeRetinaReverse Transcriptase Polymerase Chain ReactionSequence AlignmentSequence Homology, Amino AcidZebrafishZebrafish ProteinsConceptsPrimary congenital glaucomaCongenital glaucomaRetinal ganglion cell layerRetinal ganglion cell apoptosisCiliary epitheliumGlial fibrillary acidic proteinWhole-exome sequencing analysisGanglion cell layerGanglion cell apoptosisHuman ocular ciliary epitheliumFibrillary acidic proteinOcular anterior segmentIntraocular pressure regulationOcular ciliary epitheliumNon-pigmented ciliary epitheliumAutosomal recessive fashionOptical neuropathyOcular effectsRetinal damageMüller cellsAnterior segmentPressure regulationAcidic proteinKnockout animalsGuanylate cyclaseCPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix
Bonet-Fernández J, Aroca-Aguilar J, Corton M, Ramírez A, Alexandre-Moreno S, García-Antón M, Salazar J, Ferre-Fernández J, Atienzar-Aroca R, Villaverde C, Iancu I, Tamayo A, Méndez-Hernández C, Morales-Fernández L, Rojas B, Ayuso C, Coca-Prados M, Martinez-de-la-Casa J, García-Feijoo J, Escribano J. CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix. Human Genetics 2020, 139: 1209-1231. PMID: 32274568, DOI: 10.1007/s00439-020-02164-0.Peer-Reviewed Original ResearchMeSH KeywordsAdultAlpha-MacroglobulinsAnimalsAnterior ChamberCase-Control StudiesComplement C3CRISPR-Cas SystemsEmbryo, NonmammalianExtracellular MatrixEye AbnormalitiesFemaleGene EditingGene ExpressionGenes, RecessiveGlaucomaHigh-Throughput Nucleotide SequencingHumansLoss of Function MutationMaleMiddle AgedPedigreeTrabecular MeshworkTrabeculectomyTrypsin Inhibitor, Kazal PancreaticZebrafishConceptsZebrafish embryosAnterior segment dysgenesisExtracellular matrixPrimary congenital glaucomaNext-generation DNA sequencingGross developmental abnormalitiesFunction pathogenic mechanismQuantitative reverse transcription PCRAbnormal extracellular matrixCongenital glaucomaCRISPR/Mesenchyme-like cellsTrabecular meshwork cellsReverse transcription-PCRUnknown functionExtracellular matrix disorganizationDNA sequencingGenesGenetic alterationsEmbryosMeshwork cellsDevelopmental abnormalitiesTranscription-PCRAnterior chamber angleDisease Role
2019
The association study of lipid metabolism gene polymorphisms with AMD identifies a protective role for APOE‐E2 allele in the wet form in a Northern Spanish population
Fernández‐Vega B, García M, Olivares L, Álvarez L, González‐Fernández A, Artime E, Cueto A, Cobo T, Coca‐Prados M, Vega J, González‐Iglesias H. The association study of lipid metabolism gene polymorphisms with AMD identifies a protective role for APOE‐E2 allele in the wet form in a Northern Spanish population. Acta Ophthalmologica 2019, 98: e282-e291. PMID: 31654486, DOI: 10.1111/aos.14280.Peer-Reviewed Original ResearchConceptsAge-related macular degenerationWet age-related macular degenerationNorthern Spanish patientsLipid metabolism genesSpanish patientsSingle nucleotide polymorphismsProtective roleAMD casesNorthern Spanish populationApoE E2 alleleDry AMD casesCase-control studyAPOE ε2 alleleSpanish populationMetabolism gene polymorphismsABCA1 rs1883025Peripheral bloodHealthy controlsMacular degenerationAdditional association studiesGene polymorphismsLPL rs12678919APOE genePatientsCarrier genotype
2018
Identification of myocilin as a blood plasma protein and analysis of its role in leukocyte adhesion to endothelial cell monolayers
Aroca-Aguilar JD, Fernández-Navarro A, Ontañón J, Coca-Prados M, Escribano J. Identification of myocilin as a blood plasma protein and analysis of its role in leukocyte adhesion to endothelial cell monolayers. PLOS ONE 2018, 13: e0209364. PMID: 30557320, PMCID: PMC6296516, DOI: 10.1371/journal.pone.0209364.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overBlood ProteinsBlotting, WesternCell AdhesionCytoskeletal ProteinsEye ProteinsFemaleGlycoproteinsHealthy VolunteersHEK293 CellsHuman Umbilical Vein Endothelial CellsHumansLeukocytesLiverMaleMiddle AgedProteolysisReal-Time Polymerase Chain ReactionRNA, MessengerThymus GlandConceptsPresence of myocilinEndothelial cell monolayersWestern immunoblotNon-ocular tissuesCell monolayersLymphoid organsLymphoid tissueT lymphocytesLeukocyte adhesionMatricellular proteinPlasma proteinsHuman myocilinLeukocytesMyocilinSerum proteinsPutative roleQuantitative PCRBlood plasmaLiverBiological activityAnti-adhesive proteinImmunoblotVivo proteolytic processingNew biological propertiesTissue
2017
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci
Aung T, Ozaki M, Lee MC, Schlötzer-Schrehardt U, Thorleifsson G, Mizoguchi T, Igo RP, Haripriya A, Williams SE, Astakhov YS, Orr AC, Burdon KP, Nakano S, Mori K, Abu-Amero K, Hauser M, Li Z, Prakadeeswari G, Bailey JNC, Cherecheanu AP, Kang JH, Nelson S, Hayashi K, Manabe SI, Kazama S, Zarnowski T, Inoue K, Irkec M, Coca-Prados M, Sugiyama K, Järvelä I, Schlottmann P, Lerner SF, Lamari H, Nilgün Y, Bikbov M, Park KH, Cha SC, Yamashiro K, Zenteno JC, Jonas JB, Kumar RS, Perera SA, Chan ASY, Kobakhidze N, George R, Vijaya L, Do T, Edward DP, de Juan Marcos L, Pakravan M, Moghimi S, Ideta R, Bach-Holm D, Kappelgaard P, Wirostko B, Thomas S, Gaston D, Bedard K, Greer WL, Yang Z, Chen X, Huang L, Sang J, Jia H, Jia L, Qiao C, Zhang H, Liu X, Zhao B, Wang YX, Xu L, Leruez S, Reynier P, Chichua G, Tabagari S, Uebe S, Zenkel M, Berner D, Mossböck G, Weisschuh N, Hoja U, Welge-Luessen UC, Mardin C, Founti P, Chatzikyriakidou A, Pappas T, Anastasopoulos E, Lambropoulos A, Ghosh A, Shetty R, Porporato N, Saravanan V, Venkatesh R, Shivkumar C, Kalpana N, Sarangapani S, Kanavi MR, Beni AN, Yazdani S, lashay A, Naderifar H, Khatibi N, Fea A, Lavia C, Dallorto L, Rolle T, Frezzotti P, Paoli D, Salvi E, Manunta P, Mori Y, Miyata K, Higashide T, Chihara E, Ishiko S, Yoshida A, Yanagi M, Kiuchi Y, Ohashi T, Sakurai T, Sugimoto T, Chuman H, Aihara M, Inatani M, Miyake M, Gotoh N, Matsuda F, Yoshimura N, Ikeda Y, Ueno M, Sotozono C, Jeoung JW, Sagong M, Park KH, Ahn J, Cruz-Aguilar M, Ezzouhairi SM, Rafei A, Chong YF, Ng XY, Goh SR, Chen Y, Yong VHK, Khan MI, Olawoye OO, Ashaye AO, Ugbede I, Onakoya A, Kizor-Akaraiwe N, Teekhasaenee C, Suwan Y, Supakontanasan W, Okeke S, Uche NJ, Asimadu I, Ayub H, Akhtar F, Kosior-Jarecka E, Lukasik U, Lischinsky I, Castro V, Grossmann RP, Megevand GS, Roy S, Dervan E, Silke E, Rao A, Sahay P, Fornero P, Cuello O, Sivori D, Zompa T, Mills RA, Souzeau E, Mitchell P, Wang JJ, Hewitt AW, Coote M, Crowston JG, Astakhov SY, Akopov EL, Emelyanov A, Vysochinskaya V, Kazakbaeva G, Fayzrakhmanov R, Al-Obeidan SA, Owaidhah O, Aljasim LA, Chowbay B, Foo JN, Soh RQ, Sim KS, Xie Z, Cheong AWO, Mok SQ, Soo HM, Chen XY, Peh SQ, Heng KK, Husain R, Ho SL, Hillmer AM, Cheng CY, Escudero-Domínguez FA, González-Sarmiento R, Martinon-Torres F, Salas A, Pathanapitoon K, Hansapinyo L, Wanichwecharugruang B, Kitnarong N, Sakuntabhai A, Nguyn HX, Nguyn GTT, Nguyn TV, Zenz W, Binder A, Klobassa DS, Hibberd ML, Davila S, Herms S, Nöthen MM, Moebus S, Rautenbach RM, Ziskind A, Carmichael TR, Ramsay M, Álvarez L, García M, González-Iglesias H, Rodríguez-Calvo PP, Fernández-Vega Cueto L, Oguz Ç, Tamcelik N, Atalay E, Batu B, Aktas D, Kasım B, Wilson MR, Coleman AL, Liu Y, Challa P, Herndon L, Kuchtey RW, Kuchtey J, Curtin K, Chaya CJ, Crandall A, Zangwill LM, Wong TY, Nakano M, Kinoshita S, den Hollander AI, Vesti E, Fingert JH, Lee RK, Sit AJ, Shingleton BJ, Wang N, Cusi D, Qamar R, Kraft P, Pericak-Vance MA, Raychaudhuri S, Heegaard S, Kivelä T, Reis A, Kruse FE, Weinreb RN, Pasquale LR, Haines JL, Thorsteinsdottir U, Jonasson F, Allingham RR, Milea D, Ritch R, Kubota T, Tashiro K, Vithana EN, Micheal S, Topouzis F, Craig JE, Dubina M, Sundaresan P, Stefansson K, Wiggs JL, Pasutto F, Khor CC. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. Nature Genetics 2017, 49: 993-1004. PMID: 28553957, PMCID: PMC6685441, DOI: 10.1038/ng.3875.Peer-Reviewed Original ResearchMeSH KeywordsAged, 80 and overAllelesAmino Acid OxidoreductasesAmino Acid SubstitutionAsian PeopleCalcium ChannelsCell AdhesionExfoliation SyndromeExtracellular MatrixEyeFemaleGene Expression ProfilingGenetic Predisposition to DiseaseGenome-Wide Association StudyHaplotypesHumansMaleMolecular ChaperonesMutation, MissensePoint MutationRNA, MessengerSpheroids, CellularConceptsGlobal genome-wide association studyAssociation studiesSusceptibility lociGenome-wide association studiesProtective rare variantsDisease-associated lociNew susceptibility lociFine-mapping analysisGenetic association studiesRare protective variantsLociProtective variantsRare variantsLOXL1VariantsWiggJapanese populationWhole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development
Ferre-Fernández JJ, Aroca-Aguilar JD, Medina-Trillo C, Bonet-Fernández JM, Méndez-Hernández CD, Morales-Fernández L, Corton M, Cabañero-Valera MJ, Gut M, Tonda R, Ayuso C, Coca-Prados M, García-Feijoo J, Escribano J. Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development. Scientific Reports 2017, 7: 46175. PMID: 28397860, PMCID: PMC5387416, DOI: 10.1038/srep46175.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCarrier ProteinsChromosome SegregationEmbryo, NonmammalianExome SequencingEyeFaceFamilyFemaleGene Expression Regulation, DevelopmentalGene Knockdown TechniquesGlaucomaHumansMaleMiddle AgedMutationOrgan SpecificityPedigreePhenotypePromoter Regions, GeneticReceptors, CXCR4SkullSubcellular FractionsTranscriptional ActivationZebrafishConceptsNew genesZebrafish embryosCraniofacial developmentEarly zebrafish embryosNeural crest cell migrationCrest cell migrationNew disease genesMesenchymal-like cellsHigh genetic heterogeneityUnidentified functionTransient overexpressionProximal promoterDisease genesGene Pitx2Whole-exome sequencingGenesCell migrationGenetic heterogeneityExome sequencingSkeletal muscleRare variantsCraniofacial abnormalitiesEmbryosSequencingProteinMetallothionein polymorphisms in a Northern Spanish population with neovascular and dry forms of age-related macular degeneration
García M, Álvarez L, Fernández Á, González-Iglesias H, Escribano J, Fernández-Vega B, Villota E, Cueto L, Fernández-Vega Á, Coca-Prados M. Metallothionein polymorphisms in a Northern Spanish population with neovascular and dry forms of age-related macular degeneration. Ophthalmic Genetics 2017, 38: 451-458. PMID: 28635422, DOI: 10.1080/13816810.2017.1288825.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overCase-Control StudiesFemaleGene FrequencyGenetic Association StudiesGenetic Predisposition to DiseaseGenotypeGenotyping TechniquesGeographic AtrophyHumansMaleMetallothioneinMiddle AgedPolymerase Chain ReactionPolymorphism, Single NucleotideSpainWet Macular DegenerationConceptsAge-related macular degenerationDry age-related macular degenerationSingle nucleotide polymorphismsMT genesMacular degenerationNorthern Spanish populationHaploView 4.0 softwareNorthern Spanish patientsCase-control studySpanish populationMetallothionein genePeripheral bloodHealthy controlsAMD subjectsAssociation studiesSpanish patientsGenesPotential associationSignificant associationNucleotide polymorphismsGenotype AGControl cases
2015
CFH polymorphisms in a Northern Spanish population with neovascular and dry forms of age‐related macular degeneration
García M, Álvarez L, Nogacka AM, González-Iglesias H, Escribano J, Fernández-Vega B, Fernández-Vega Á, Fernández-Vega L, Coca-Prados M. CFH polymorphisms in a Northern Spanish population with neovascular and dry forms of age‐related macular degeneration. Acta Ophthalmologica 2015, 93: e658-e666. PMID: 26152901, DOI: 10.1111/aos.12790.Peer-Reviewed Original ResearchConceptsAge-related macular degenerationMacular degenerationSingle nucleotide polymorphismsRisk of AMDNorthern Spanish populationStrongest genetic risk factorHaploView 4.0 softwareNorthern Spanish patientsDifferent clinical formsCase-control studyComplement factor H (CFH) geneSpanish populationGenetic risk factorsRestriction fragment length polymorphismFactor H genePeripheral bloodClinical formsHealthy controlsRisk factorsSpanish patientsAllelic frequency analysisCFH polymorphismsCFH geneHaplotype CGGSignificant association
2013
Comparative proteomic study in serum of patients with primary open-angle glaucoma and pseudoexfoliation glaucoma
González-Iglesias H, Álvarez L, García M, Escribano J, Rodríguez-Calvo PP, Fernández-Vega L, Coca-Prados M. Comparative proteomic study in serum of patients with primary open-angle glaucoma and pseudoexfoliation glaucoma. Journal Of Proteomics 2013, 98: 65-78. PMID: 24355480, DOI: 10.1016/j.jprot.2013.12.006.Peer-Reviewed Original ResearchConceptsPrimary open-angle glaucomaOpen-angle glaucomaPseudoexfoliation glaucomaGlaucoma patientsInflammatory-related processesSera of patientsForms of glaucomaLarge population studiesPanel of candidatesAge-related blindnessSerum proteinsFunctional pathway analysisClinical manifestationsDietary agentsInflammatory processGlaucoma biomarkersHealthy controlsEarly diagnosisGlaucomaPatientsMajor causeSerumPopulation studiesTwo-dimensional fluorescent difference gel electrophoresisGenetic linkage studies
2012
The Stoichiometric Transition from Zn6Cu1-Metallothionein to Zn7-Metallothionein Underlies the Up-regulation of Metallothionein (MT) Expression QUANTITATIVE ANALYSIS OF MT-METAL LOAD IN EYE CELLS*
Alvarez L, Gonzalez-Iglesias H, Garcia M, Ghosh S, Sanz-Medel A, Coca-Prados M. The Stoichiometric Transition from Zn6Cu1-Metallothionein to Zn7-Metallothionein Underlies the Up-regulation of Metallothionein (MT) Expression QUANTITATIVE ANALYSIS OF MT-METAL LOAD IN EYE CELLS*. Journal Of Biological Chemistry 2012, 287: 28456-28469. PMID: 22722935, PMCID: PMC3436589, DOI: 10.1074/jbc.m112.365015.Peer-Reviewed Original ResearchConceptsInflammatory eye diseaseRetinal ganglion cellsPresence of TNFαCorneal epithelial cell lineInflammatory cytokinesProinflammatory cytokinesEpithelial cell lineSynthesis of metallothioneinGanglion cellsEye diseaseLevels of metallothioneinCorneal tissueCombination of zincEndothelial cellsCytokinesMT1 isoformsIL1αEffect of zincGene expressionCadaver eyesConcentration of metallothioneinEye cellsMicroarray-based analysisZinc exposureMT isoforms
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
2005
The Cross-Species A3 Adenosine-Receptor Antagonist MRS 1292 Inhibits Adenosine-Triggered Human Nonpigmented Ciliary Epithelial Cell Fluid Release and Reduces Mouse Intraocular Pressure
Yang H, Avila MY, Peterson-Yantorno K, Coca-Prados M, Stone RA, Jacobson KA, Civan MM. The Cross-Species A3 Adenosine-Receptor Antagonist MRS 1292 Inhibits Adenosine-Triggered Human Nonpigmented Ciliary Epithelial Cell Fluid Release and Reduces Mouse Intraocular Pressure. Current Eye Research 2005, 30: 747-754. PMID: 16146920, PMCID: PMC3471215, DOI: 10.1080/02713680590953147.Peer-Reviewed Original Research
2003
Sex steroid hormone metabolism takes place in human ocular cells
Coca-Prados M, Ghosh S, Wang Y, Escribano J, Herrala A, Vihko P. Sex steroid hormone metabolism takes place in human ocular cells. The Journal Of Steroid Biochemistry And Molecular Biology 2003, 86: 207-216. PMID: 14568574, DOI: 10.1016/j.jsbmb.2003.08.001.Peer-Reviewed Original ResearchConceptsSex steroid hormone metabolismCiliary epitheliumHuman ocular cellsSex steroid hormonesHuman ciliary epithelial cellsSteroid hormone metabolismAndrogen agonistsCiliary epithelial cellsEstrogenic milieuOcular diseasesOcular cellsSteroid hormonesMRNA expressionImportant mediatorOxidative enzymatic activityHuman ciliary epitheliumGene expressionEpithelial cellsHormone metabolismHormone-responsive genesSecretory epitheliumEpitheliumH time courseCell linesTime courseInhibition 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
1998
Sequence Analysis and Homology Modeling Suggest That Primary Congenital Glaucoma on 2p21 Results from Mutations Disrupting Either the Hinge Region or the Conserved Core Structures of Cytochrome P4501B1
Stoilov I, Akarsu A, Alozie I, Child A, Barsoum-Homsy M, Turacli M, Or M, Lewis R, Ozdemir N, Brice G, Aktan S, Chevrette L, Coca-Prados M, Sarfarazi M. Sequence Analysis and Homology Modeling Suggest That Primary Congenital Glaucoma on 2p21 Results from Mutations Disrupting Either the Hinge Region or the Conserved Core Structures of Cytochrome P4501B1. American Journal Of Human Genetics 1998, 62: 573-584. PMID: 9497261, PMCID: PMC1376958, DOI: 10.1086/301764.Peer-Reviewed Original Research
1995
Isolation and Characterization of Cell-Specific cDNA Clones from a Subtractive Library of the Ocular Ciliary Body of a Single Normal Human Donor: Transcription and Synthesis of Plasma Proteins1
Escribano J, Ortego J, Coca-Prados M. Isolation and Characterization of Cell-Specific cDNA Clones from a Subtractive Library of the Ocular Ciliary Body of a Single Normal Human Donor: Transcription and Synthesis of Plasma Proteins1. The Journal Of Biochemistry 1995, 118: 921-931. PMID: 8749308, DOI: 10.1093/jb/118.5.921.Peer-Reviewed Original ResearchConceptsSubtractive cDNA libraryOcular ciliary bodyCDNA clonesCDNA libraryCell-restricted expressionPartial DNA sequencesCell-specific genesPotential candidate genesSubtractive libraryComplement component C4Significant homologyHomology searchProtein databaseDNA sequencesCiliary bodyCandidate genesTranscriptional expressionNorthern hybridizationSignificant genesGenesIntraocular pressureCiliary epithelial cellsPlasma proteinsProteinVascular endothelial cells