2024
The Increased Burden of Rare Variants in Four Matrix Metalloproteinase-Related Genes in Childhood Glaucoma Suggests a Complex Genetic Inheritance of the Disease
Tevar A, Aroca-Aguilar J, Bonet-Fernández J, Atienzar-Aroca R, Campos-Mollo E, Méndez-Hernández C, Morales-Fernández L, Palmer I, Coca-Prados M, Martinez-de-la-Casa J, Garcia-Feijoo J, Escribano J. The Increased Burden of Rare Variants in Four Matrix Metalloproteinase-Related Genes in Childhood Glaucoma Suggests a Complex Genetic Inheritance of the Disease. International Journal Of Molecular Sciences 2024, 25: 5757. PMID: 38891949, PMCID: PMC11171635, DOI: 10.3390/ijms25115757.Peer-Reviewed Original ResearchChildhood glaucomaGene variantsIncreased burden of rare variantsChildhood glaucoma patientsEarly-onset glaucomaIrreversible optic neuropathyAnterior eye chamberRare variantsPartial loss-of-function effectsLoss-of-function effectProportion of rare variantsBurden of rare variantsComplex genetic inheritanceGlaucoma patientsGlaucoma typePrimary glaucomaOptic neuropathyMutational burdenAnterior segmentEndoplasmic reticulum stressEye chamberT cellsHEK 293T cellsGlaucomaNext-generation sequencing
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 cyclase
2014
The Blood-Aqueous Barrier in Health and Disease
Coca-Prados M. The Blood-Aqueous Barrier in Health and Disease. Journal Of Glaucoma 2014, 23: s36-s38. PMID: 25275903, DOI: 10.1097/ijg.0000000000000107.Peer-Reviewed Original ResearchConceptsBlood-aqueous barrierTight junctionsInflammatory ocular diseasesBlood-borne moleculesInner wall endotheliumInflammatory cellsBarrier dysfunctionVascular leakagePharmacologic agentsAnterior segmentOcular diseasesSchlemm's canalIris vasculatureCiliary processesEndothelial cellsJunctional complexesGap junctionsParacellular transportPhysiological changesDiseaseEyesCanalCellsApical junctional complex
2010
Neuroendocrine Properties of the Ciliary Epithelium
Coca-Prados M. Neuroendocrine Properties of the Ciliary Epithelium. 2010, 107-112. DOI: 10.1016/b978-0-12-374203-2.00088-9.Peer-Reviewed Original ResearchCiliary epitheliumAqueous humorOcular hypotensive actionSame embryological originRetinal pigment epitheliumEye aqueous humorOcular ciliary epitheliumHypotensive actionAqueous humor secretionAnterior segmentEndocrine factorsPigment epitheliumNeuroendocrine propertiesEndocrine systemEmbryological originNeuroepithelial cellsEpitheliumAvascular tissueNeuropeptidesBioactive peptidesCellsCell communicationRetinaHormoneSecretion
2008
Chapter 5 Functional Modulators Linking Inflow with Outflow of Aqueous Humor
Coca‐Prados M, Ghosh S. Chapter 5 Functional Modulators Linking Inflow with Outflow of Aqueous Humor. Current Topics In Membranes 2008, 62: 123-160. DOI: 10.1016/s1063-5823(08)00405-5.Peer-Reviewed Original ResearchCiliary epitheliumAqueous humorHuman ocular ciliary epitheliumMultiple neuroendocrine factorsTrabecular meshwork cellsOcular ciliary epitheliumImmune homeostasisMain cell typesEndocrine loopVasoactive peptidesAnterior segmentCircuitry mechanismsEndocrine factorsNeuroendocrine factorsSteroid hormonesOutflow pathwayNeuroendocrine circuitryMeshwork cellsRegulatory peptidesFunctional modulatorsAqHAvascular tissueCircadian rhythmTissueCell types
2007
New perspectives in aqueous humor secretion and in glaucoma: The ciliary body as a multifunctional neuroendocrine gland
Coca-Prados M, Escribano J. New perspectives in aqueous humor secretion and in glaucoma: The ciliary body as a multifunctional neuroendocrine gland. Progress In Retinal And Eye Research 2007, 26: 239-262. PMID: 17321191, DOI: 10.1016/j.preteyeres.2007.01.002.Peer-Reviewed Original ResearchConceptsIntraocular pressureCiliary bodyAqueous humor secretionAqueous humorCiliary epitheliumGlaucoma-associated genesImmune privilege statusDevelopment of glaucomaGlutamate-metabolizing enzymesPathophysiology of glaucomaAnti-angiogenic factorsSteroid-converting enzymesDiurnal circadian rhythmCiliary blood flowOcular ciliary bodyAnterior segmentBlood flowMultifactorial eventGlaucomaNeuroendocrine systemOutflow pathwayEndocrine communicationEndocrine systemEndocrine peptidesRegulatory peptides
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