2017
Whole-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 abnormalitiesEmbryosSequencingProtein
2005
Retinoid processing proteins in the ocular ciliary epithelium.
Salvador-Silva M, Ghosh S, Bertazolli-Filho R, Boatright JH, Nickerson JM, Garwin GG, Saari JC, Coca-Prados M. Retinoid processing proteins in the ocular ciliary epithelium. Molecular Vision 2005, 11: 356-65. PMID: 15928609.Peer-Reviewed Original ResearchAcyltransferasesAlcohol OxidoreductasesAnimalsATP-Binding Cassette TransportersBlotting, WesternCarrier ProteinsCattleCells, CulturedChromatography, High Pressure LiquidCiliary BodyCis-trans-IsomerasesEye ProteinsFluorescent Antibody Technique, IndirectGene Expression RegulationHumansImmunohistochemistryPigment Epithelium of EyeProtein TransportRabbitsRetinoidsRetinol-Binding ProteinsRetinol-Binding Proteins, CellularReverse Transcriptase Polymerase Chain ReactionRNA, Messenger
2003
CRALBP transcriptional regulation in ciliary epithelial, retinal Müller and retinal pigment epithelial cells
Kennedy BN, Li C, Ortego J, Coca-Prados M, Sarthy VP, Crabb JW. CRALBP transcriptional regulation in ciliary epithelial, retinal Müller and retinal pigment epithelial cells. Experimental Eye Research 2003, 76: 257-260. PMID: 12565814, DOI: 10.1016/s0014-4835(02)00308-1.Peer-Reviewed Original ResearchConceptsTranscriptional regulationBinding Protein FunctionsCell-specific expressionPromoter analysisProtein functionRepressor elementEnhancer elementsPromoter constructsReporter activityRetinal pigment epithelial cellsPigment epithelial cellsCiliary epitheliumEpithelial cellsVisual cycleRPE cellsBPRegulationRetinal pigment epitheliumCellsMüller cellsGenesMutationsRLBP1 geneEpitheliumWildtype
1994
Inhibition of Na(+)-K(+)-ATPase activates Na(+)-K(+)-2Cl- cotransporter activity in cultured ciliary epithelium
Dong J, Delamere N, Coca-Prados M. Inhibition of Na(+)-K(+)-ATPase activates Na(+)-K(+)-2Cl- cotransporter activity in cultured ciliary epithelium. American Journal Of Physiology 1994, 266: c198-c205. PMID: 8304416, DOI: 10.1152/ajpcell.1994.266.1.c198.Peer-Reviewed Original ResearchConceptsCotransporter activityCiliary epitheliumATPase inhibitionPotassium channel blockerNonpigmented ciliary epitheliumChannel blockersOuabain treatmentStimulatory effectPotassium effluxExtracellular concentrationCellular sodiumPotassium channelsCellular potassiumOuabain-induced activationIntracellular potassiumPotassium influxEpitheliumCell linesCotransporter stimulationCotransporterInhibitionPotassium efflux rateEfflux rateATPase activityUptake component
1993
Differential Expression of the Cellular Retinaldehyde-binding Protein in Bovine Ciliary Epithelium
Martı̀n-Alonso J, Ghosh S, Hernando N, Crabb J, Coca-Prados M. Differential Expression of the Cellular Retinaldehyde-binding Protein in Bovine Ciliary Epithelium. Experimental Eye Research 1993, 56: 659-669. PMID: 8595808, DOI: 10.1006/exer.1993.1083.Peer-Reviewed Original ResearchStudies on regulation of the ascorbic acid transporter in a cell line derived from rabbit non-pigmented ciliary epithelium
Delamere N, Coca-Prados M, Aggarwal S. Studies on regulation of the ascorbic acid transporter in a cell line derived from rabbit non-pigmented ciliary epithelium. Biochimica Et Biophysica Acta 1993, 1149: 102-108. PMID: 8391316, DOI: 10.1016/0005-2736(93)90030-4.Peer-Reviewed Original ResearchConceptsProtein kinase CKinase CAscorbate uptakeCell linesProtein kinase C inhibitorProtein kinase C activatorCultured cell linesPresence of staurosporineKinase C inhibitorAscorbic acid transporterNon-pigmented ciliary epitheliumAscorbate transporterUptake rateAcid transportersC activatorCiliary epitheliumC inhibitorNon-pigmented epithelial cellsPDBu treatmentUptake mechanismEpithelial cellsPDBu effectSodium gradientTransportersCellsCalcium-dependent regulation of cation transport in cultured human nonpigmented ciliary epithelial cells
Mito T, Delamere N, Coca-Prados M. Calcium-dependent regulation of cation transport in cultured human nonpigmented ciliary epithelial cells. American Journal Of Physiology 1993, 264: c519-c526. PMID: 8384781, DOI: 10.1152/ajpcell.1993.264.3.c519.Peer-Reviewed Original ResearchMeSH KeywordsBiological TransportBumetanideCalcimycinCalciumCarrier ProteinsCationsCell Line, TransformedCiliary BodyEgtazic AcidEpithelial CellsEpitheliumHumansOuabainPigment Epithelium of EyePotassium ChannelsQuinidineRubidiumSodium-Potassium-Chloride SymportersSodium-Potassium-Exchanging ATPaseTerpenesThapsigarginConceptsPotassium channelsIntracellular calcium bufferPotassium channel activityOuabain-sensitive potassium (86Rb) uptakeOuabain-sensitive componentCalcium-induced activationOuabain-insensitive componentNa-K-ATPaseCalcium-induced stimulationCiliary epithelial cellsNa-K-adenosinetriphosphataseMM quinidineThapsigargin stimulationIntracellular calciumPotassium lossCiliary epitheliumCalcium-dependent regulationEpithelial cellsAcetoxymethyl esterCalcium bufferCultured humanChannel activityCell linesCotransporterBumetanide
1988
Na+/H+ exchange regulates intracellular pH in a cell clone derived from bovine pigmented ciliary epithelium
Helbig H, Korbmacher C, Stumpff F, Coca‐Prados M, Wiederholt M. Na+/H+ exchange regulates intracellular pH in a cell clone derived from bovine pigmented ciliary epithelium. Journal Of Cellular Physiology 1988, 137: 384-389. PMID: 2848042, DOI: 10.1002/jcp.1041370225.Peer-Reviewed Original ResearchConceptsPigmented ciliary epitheliumMM amilorideAcid loadCiliary epitheliumCell clonesPH-sensitive absorbanceBicarbonate-free mediumRegulation of intracellularCiliary bodyAmilorideExtracellular protonsBovine ciliary bodyEpitheliumConfluent monolayersIntracellularCellsCellular metabolismSlow acidificationAlkalinizationPlastic coverslips