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
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
1992
Regulation of ICAM-1 expression on human non-pigmented ciliary body epithelial (NPE) and trabecular meshwork (HTM) cells
Aoki K, Kropp M, Bullington R, Gil D, Coca-Prados M, WoldeMussie E, Wheeler L. Regulation of ICAM-1 expression on human non-pigmented ciliary body epithelial (NPE) and trabecular meshwork (HTM) cells. Experimental Eye Research 1992, 55: 10. DOI: 10.1016/0014-4835(92)90248-q.Peer-Reviewed Original Research