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
2008
Expression and purification of functional recombinant human pigment epithelium-derived factor (PEDF) secreted by the yeast Pichia pastoris
Sánchez-Sánchez F, Aroca-Aguilar JD, Segura I, Ramírez-Castillejo C, Riese HH, Coca-Prados M, Escribano J. Expression and purification of functional recombinant human pigment epithelium-derived factor (PEDF) secreted by the yeast Pichia pastoris. Journal Of Biotechnology 2008, 134: 193-201. PMID: 18282627, DOI: 10.1016/j.jbiotec.2008.01.005.Peer-Reviewed Original ResearchConceptsPigment epithelium-derived factorEpithelium-derived factorRecombinant pigment epithelium-derived factorRecombinant human pigment epithelium-derived factorHuman pigment epithelium-derived factorCerebellar granule cell survivalPotential therapeutic agentGranule cell survivalFull-length PEDFStem cell self-renewal propertiesCell-based therapiesTherapeutic roleOcular diseasesTherapeutic agentsSelf-renewal propertiesEndothelial cell migrationLiquid chromatographyCell linesRPEDFCell survivalHigh-performance liquid chromatographyCell migrationYeast Pichia pastorisLow pressure liquid chromatographyPichia pastoris