2024
Neuroendocrine Properties of the Ciliary Epithelium
Coca-Prados M. Neuroendocrine Properties of the Ciliary Epithelium. 2024 DOI: 10.1016/b978-0-443-13820-1.00083-9.Peer-Reviewed Original ResearchGene expressionExpression of bioactive peptidesIdentity of genesGene expression of enzymesMicroarray-based analysisExpression of enzymesSensor proteinsRegulate metabolismGenesPhysiological processesCiliary epitheliumPhysiological functionsT4 to T3Neuronal Ca2Neuroendocrine propertiesVasoconstrictive functionVasoactive aminesPeptide receptorBioactive peptidesIon channelsMetabolismPeptideEyesEnzymeProtein
2020
CPAMD8 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
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 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
2004
Identification of Target Genes Regulated by FOXC1 Using Nickel Agarose–Based Chromatin Enrichment
Tamimi Y, Lines M, Coca-Prados M, Walter MA. Identification of Target Genes Regulated by FOXC1 Using Nickel Agarose–Based Chromatin Enrichment. Investigative Ophthalmology & Visual Science 2004, 45: 3904-3913. PMID: 15505035, DOI: 10.1167/iovs.04-0628.Peer-Reviewed Original ResearchConceptsChromatin enrichmentIsolation of chromatinChromatin immunoprecipitation assaysTight electrostatic interactionUncharacterized genesChromatin complexesFOXC1 proteinNickel agaroseImmunoprecipitation assaysPoor quality sequencesTarget genesAntibody availabilityCellular eventsCell cycleHistidine residuesGenesFOXC1Biochemical analysisClonesPCR amplificationChromatinIndependent assaysOcular developmentProteinEpithelium cells
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
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 glaucomaGenesExpression 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: 155-169. DOI: 10.1076/1381-6810(200009)2131-zft155.Peer-Reviewed Original ResearchTIGR 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
1999
Differential gene expression in the human ciliary epithelium
Coca-Prados M, Escribano J, Ortego J. Differential gene expression in the human ciliary epithelium. Progress In Retinal And Eye Research 1999, 18: 403-429. PMID: 10192520, DOI: 10.1016/s1350-9462(98)00026-3.Peer-Reviewed Original ResearchConceptsDifferential gene expressionCell-specific expressionDiversity of functionsExpression of genesOcular ciliary bodySubtractive libraryNeuropeptide processing enzymesMolecular basisGene expressionCultured ciliary epithelial cellsCell differentiationCiliary epitheliumHuman ciliary epitheliumAntioxidative enzymesGenesCiliary epithelial cellsRegulatory peptidesLight-dark cycleEpithelial cellsMuscle cellsCiliary muscle cellsAutocrine mechanismExpressionPlasma proteinsParacrine mechanisms
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