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
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