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
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
Quantitative study of zinc and metallothioneins in the human retina and RPE cells by mass spectrometry-based methodologies
Rodríguez-Menéndez S, Fernández B, García M, Álvarez L, Fernández M, Sanz-Medel A, Coca-Prados M, Pereiro R, González-Iglesias H. Quantitative study of zinc and metallothioneins in the human retina and RPE cells by mass spectrometry-based methodologies. Talanta 2017, 178: 222-230. PMID: 29136815, DOI: 10.1016/j.talanta.2017.09.024.Peer-Reviewed Original ResearchMetallothionein 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
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
Selective Upregulation of the A3 Adenosine Receptor in Eyes with Pseudoexfoliation Syndrome and Glaucoma
Schlötzer-Schrehardt U, Zenkel M, Decking U, Haubs D, Kruse FE, Jünemann A, Coca-Prados M, Naumann GO. Selective Upregulation of the A3 Adenosine Receptor in Eyes with Pseudoexfoliation Syndrome and Glaucoma. Investigative Ophthalmology & Visual Science 2005, 46: 2023-2034. PMID: 15914619, DOI: 10.1167/iovs.04-0915.Peer-Reviewed Original ResearchMeSH KeywordsAdenosineAgedAged, 80 and overAnterior Eye SegmentAqueous HumorBlotting, NorthernCell Culture TechniquesChromatography, High Pressure LiquidExfoliation SyndromeGlaucoma, Angle-ClosureGlaucoma, Open-AngleHumansHypoxanthineImmunohistochemistryIn Situ HybridizationInosineReceptor, Adenosine A3Reverse Transcriptase Polymerase Chain ReactionRNA, MessengerUp-RegulationXanthineConceptsControl eyesLevels of adenosineA3 adenosine receptorAdenosine receptorsPEX eyesPseudoexfoliation syndromeIntraocular pressureAqueous humor secretionCiliary epitheliumEpithelial cellsNonpigmented epithelial cellsOxidative stressGlaucomatous control eyesAngle-closure glaucomaNormal control eyesHypoxia-induced upregulationAdenosine receptor expressionAqueous humor samplesAnterior segment tissuesAqueous humor dynamicsNonpigmented ciliary epitheliumA3 receptor mRNAEffects of hypoxiaAdenosine receptor subtypesNonpigmented ciliary epithelial cells
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
2000
Expression of the TIGR gene in the iris, ciliary body, and trabecular meshwork of the human eye.
Huang W, Jaroszewski J, Ortego J, Escribano J, Coca-Prados M. Expression of the TIGR gene in the iris, ciliary body, and trabecular meshwork of the human eye. Ophthalmic Genetics 2000, 21: 155-69. PMID: 11035548, DOI: 10.1076/1381-6810(200009)21:3;1-z;ft155.Peer-Reviewed Original ResearchConceptsTIGR proteinTranscription/translation systemCanine pancreatic microsomal membranesPancreatic microsomal membranesSitu hybridization experimentsTissue-specific mannerTIGR genePattern of expressionCarboxy-terminus regionMajor protein bandsHybridization experimentsTerminus regionFusion proteinGlycosylation activityMolecular massProteinPNGase FDeglycosylation treatmentProtein bandsMicrosomal membranesTranslation systemO-glycosidaseJuvenile-onset primary open-angle glaucomaGenes
1997
Gene Expression of Proteases and Protease Inhibitors in the Human Ciliary Epithelium and ODM-2 Cells
ORTEGO J, ESCRIBANO J, COCA-PRADOS M. Gene Expression of Proteases and Protease Inhibitors in the Human Ciliary Epithelium and ODM-2 Cells. Experimental Eye Research 1997, 65: 289-299. PMID: 9268597, DOI: 10.1006/exer.1997.0333.Peer-Reviewed Original ResearchMeSH KeywordsAgedAlpha 1-AntitrypsinAlpha-MacroglobulinsBlotting, NorthernBlotting, WesternCarcinogensCathepsin DCathepsin KCathepsinsCell LineCiliary BodyCysteine EndopeptidasesDNA, ComplementaryEndopeptidasesEpithelial CellsGene ExpressionGlycoproteinsHumansMiddle AgedPolymerase Chain ReactionPrecipitin TestsPregnancy ProteinsProtease InhibitorsSerine Proteinase InhibitorsTetradecanoylphorbol AcetateConceptsODM-2 cellsPP5/TFPICiliary epithelial cellsComplementary DNARegulation of transcriptionProteinase inhibitorsEpithelial cellsNon-protein kinase CCathepsin DProtein kinase C activationKinase C activationPattern of expressionCiliary bodyImmunoprecipitation experimentsGene expressionNorthern analysisCultured ciliary epithelial cellsKinase CWestern blot analysisHuman ciliary epitheliumAlpha-phorbol didecanoatePhorbol esterC activationBlot analysisHuman proteinases
1996
Identification of a Neuropeptide and Neuropeptide‐Processing Enzymes in Aqueous Humor Confers Neuroendocrine Features to the Human Ocular Ciliary Epithelium
Ortego J, Escribano J, Crabb J, Coca‐Prados M. Identification of a Neuropeptide and Neuropeptide‐Processing Enzymes in Aqueous Humor Confers Neuroendocrine Features to the Human Ocular Ciliary Epithelium. Journal Of Neurochemistry 1996, 66: 787-796. PMID: 8592153, DOI: 10.1046/j.1471-4159.1996.66020787.x.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAnimalsAqueous HumorBase SequenceCarboxypeptidase HCarboxypeptidasesCell LineChild, PreschoolChromograninsCiliary BodyEpithelial CellsEpitheliumFluorescent Antibody Technique, IndirectHumansMixed Function OxygenasesMolecular Sequence DataMultienzyme ComplexesNeurosecretory SystemsProteinsRatsConceptsNeuropeptide processing enzymesCarboxypeptidase ECiliary epithelial cellsOcular ciliary epitheliumSecretogranin IICell-cell communicationEpithelial cellsHuman ocular ciliary epitheliumCDNA clonesCell signalingNonpigmented ciliary epithelial cellsCultured ciliary epithelial cellsProcessing enzymesMolecular markersPeptidylglycine alphaPhorbol esterSpecialized groupSpecific probesMammalian eyeNeuroendocrine tissuesEnzymeCiliary epitheliumKey functionsCellsPolymerase chain reaction
1995
Cell-specific expression of the human Na+,K(+)-ATPase beta 2 subunit isoform in the nonpigmented ciliary epithelium.
Coca-Prados M, Fernández-Cabezudo M, Sánchez-Torres J, Crabb J, Ghosh S. Cell-specific expression of the human Na+,K(+)-ATPase beta 2 subunit isoform in the nonpigmented ciliary epithelium. Investigative Ophthalmology & Visual Science 1995, 36: 2717-28. PMID: 7499094.Peer-Reviewed Original ResearchConceptsBeta 2 isoformNonpigmented ciliary epithelial cellsOcular tissuesCiliary epitheliumBeta 1NPE cell linesNonpigmented ciliary epitheliumNPE cellsHuman ocular tissuesSubunit isoformsBlot analysisATPase subunit isoformsSpecific anti-peptide antibodiesRestricted cellular distributionPolymerase chain reactionCiliary epithelial cellsBeta-subunit isoformsAlpha-subunit isoformsAnti-peptide antibodiesODM-2Polymerase chain reaction amplificationChain reaction amplificationHuman ciliary epitheliumCell-specific distributionPattern of expression