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, RamĂrez A, Alexandre-Moreno S, GarcĂa-AntĂłn M, Salazar J, Ferre-Fernández J, Atienzar-Aroca R, Villaverde C, Iancu I, Tamayo A, MĂ©ndez-Hernández C, Morales-Fernández L, Rojas B, Ayuso C, Coca-Prados M, Martinez-de-la-Casa J, GarcĂa-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
2005
FOXC1 Transcriptional Regulatory Activity Is Impaired by PBX1 in a Filamin A-Mediated Manner
Berry FB, O'Neill MA, Coca-Prados M, Walter MA. FOXC1 Transcriptional Regulatory Activity Is Impaired by PBX1 in a Filamin A-Mediated Manner. Molecular And Cellular Biology 2005, 25: 1415-1424. PMID: 15684392, PMCID: PMC548007, DOI: 10.1128/mcb.25.4.1415-1424.2005.Peer-Reviewed Original ResearchMeSH KeywordsCell FractionationCell NucleusChromobox Protein Homolog 5Chromosomal Proteins, Non-HistoneContractile ProteinsDNA-Binding ProteinsEye AbnormalitiesFilaminsForkhead Transcription FactorsHeLa CellsHeterochromatinHumansMicrofilament ProteinsMutationProtein BindingProto-Oncogene ProteinsTranscription FactorsTumor Cells, CulturedConceptsFilamin AHuman nonpigmented ciliary epithelial cellsFunction mutationsNonpigmented ciliary epithelial cellsAxenfeld-Rieger syndromeAutosomal dominant disorderCiliary epithelial cellsMelanoma cellsSkeletal disordersElevated levelsDominant disorderEpithelial cellsImportant transcription factorSkeletal phenotypeProtein filamin AFOXC1Inhibitory activityDisorders
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