2017
Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development
Ferre-Fernández JJ, Aroca-Aguilar JD, Medina-Trillo C, Bonet-Fernández JM, Méndez-Hernández CD, Morales-Fernández L, Corton M, Cabañero-Valera MJ, Gut M, Tonda R, Ayuso C, Coca-Prados M, García-Feijoo J, Escribano J. Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development. Scientific Reports 2017, 7: 46175. PMID: 28397860, PMCID: PMC5387416, DOI: 10.1038/srep46175.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCarrier ProteinsChromosome SegregationEmbryo, NonmammalianExome SequencingEyeFaceFamilyFemaleGene Expression Regulation, DevelopmentalGene Knockdown TechniquesGlaucomaHumansMaleMiddle AgedMutationOrgan SpecificityPedigreePhenotypePromoter Regions, GeneticReceptors, CXCR4SkullSubcellular FractionsTranscriptional ActivationZebrafishConceptsNew genesZebrafish embryosCraniofacial developmentEarly zebrafish embryosNeural crest cell migrationCrest cell migrationNew disease genesMesenchymal-like cellsHigh genetic heterogeneityUnidentified functionTransient overexpressionProximal promoterDisease genesGene Pitx2Whole-exome sequencingGenesCell migrationGenetic heterogeneityExome sequencingSkeletal muscleRare variantsCraniofacial abnormalitiesEmbryosSequencingProtein
1997
Molecular Characterization and Differential Gene Induction of the Neuroendocrine‐Specific Genes Neurotensin, Neurotensin Receptor, PC1, PC2, and 7B2 in the Human Ocular Ciliary Epithelium
Ortego J, Coca‐Prados M. Molecular Characterization and Differential Gene Induction of the Neuroendocrine‐Specific Genes Neurotensin, Neurotensin Receptor, PC1, PC2, and 7B2 in the Human Ocular Ciliary Epithelium. Journal Of Neurochemistry 1997, 69: 1829-1839. PMID: 9349525, DOI: 10.1046/j.1471-4159.1997.69051829.x.Peer-Reviewed Original ResearchMeSH KeywordsAspartic Acid EndopeptidasesCell LineCiliary BodyColforsinDexamethasoneDNA PrimersEnzyme InductionEpithelial CellsFurinGene Expression RegulationHumansIsoproterenolModels, BiologicalNerve Growth FactorsNeurosecretory SystemsNeurotensinPolymerase Chain ReactionProprotein Convertase 2Proprotein ConvertasesReceptors, NeurotensinSubtilisinsTetradecanoylphorbol AcetateTimololTranscriptional ActivationUp-RegulationConceptsOcular ciliary epitheliumDifferential gene inductionImportant physiological functionsHuman ocular ciliary epitheliumHuman cell linesTransduction pathwaysGene inductionGene expressionCiliary epitheliumBeta2-adrenergic receptorMolecular characterizationPhysiological functionsCell extractsODM-2Human ciliary epitheliumNeuroepithelial cellsSame inducersPhorbol esterCell linesNeuroendocrine tissuesExpressionGrowth factorParacrine mechanismsPC2 expressionNerve growth factor