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
2011
Interaction of Recombinant Myocilin with the Matricellular Protein SPARC: Functional Implications
Aroca-Aguilar JD, Sánchez-Sánchez F, Ghosh S, Fernández-Navarro A, Coca-Prados M, Escribano J. Interaction of Recombinant Myocilin with the Matricellular Protein SPARC: Functional Implications. Investigative Ophthalmology & Visual Science 2011, 52: 179-189. PMID: 20926826, PMCID: PMC3053273, DOI: 10.1167/iovs.09-4866.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceBlotting, WesternCalcium-Binding ProteinsCell LineChromatography, High Pressure LiquidCytoskeletal ProteinsExtracellular Matrix ProteinsEye ProteinsGene Expression ProfilingGlycoproteinsHumansKidneyMicroscopy, FluorescenceMolecular Sequence DataOsteonectinPolymerase Chain ReactionProtein BindingRecombinant Fusion ProteinsRecombinant ProteinsTwo-Hybrid System TechniquesConceptsHEK 293T cellsSolid-phase binding assaysInteraction of myocilinRecombinant proteinsRecombinant myocilinMatricellular proteinEC domainTerminal olfactomedin domainTwo-hybrid analysisTwo-hybrid systemProtein-protein interactionsFull-length myocilinC-terminal domainN-terminal domainC-terminal regionCalcium binding domainsBinding assaysOlfactomedin domainC-terminal fragmentBinding domainsLinker regionUnknown functionExtracellular glycoproteinIntracellular interactionsSPARC family