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
1995
Cell-specific expression of the human Na+,K(+)-ATPase beta 2 subunit isoform in the nonpigmented ciliary epithelium.
Coca-Prados M, Fernández-Cabezudo M, Sánchez-Torres J, Crabb J, Ghosh S. Cell-specific expression of the human Na+,K(+)-ATPase beta 2 subunit isoform in the nonpigmented ciliary epithelium. Investigative Ophthalmology & Visual Science 1995, 36: 2717-28. PMID: 7499094.Peer-Reviewed Original ResearchConceptsBeta 2 isoformNonpigmented ciliary epithelial cellsOcular tissuesCiliary epitheliumBeta 1NPE cell linesNonpigmented ciliary epitheliumNPE cellsHuman ocular tissuesSubunit isoformsBlot analysisATPase subunit isoformsSpecific anti-peptide antibodiesRestricted cellular distributionPolymerase chain reactionCiliary epithelial cellsBeta-subunit isoformsAlpha-subunit isoformsAnti-peptide antibodiesODM-2Polymerase chain reaction amplificationChain reaction amplificationHuman ciliary epitheliumCell-specific distributionPattern of expression