2021
Impaired GSH biosynthesis disrupts eye development, lens morphogenesis and PAX6 function
Thompson B, Chen Y, Davidson EA, Garcia-Milian R, Golla JP, Apostolopoulos N, Orlicky DJ, Schey K, Thompson DC, Vasiliou V. Impaired GSH biosynthesis disrupts eye development, lens morphogenesis and PAX6 function. The Ocular Surface 2021, 22: 190-203. PMID: 34425299, PMCID: PMC8560581, DOI: 10.1016/j.jtos.2021.08.010.Peer-Reviewed Original ResearchConceptsHEK293T cellsEye developmentGSH biosynthesisTransactivation activityPax6 functionReactive oxygen speciesSubsequent gene ontologyCell identity genesButhionine sulfoximineEpithelial cell identityRNA-seq analysisIngenuity Pathway AnalysisKey upstream regulatorIdentity genesCell identityGene OntologyRNA-seqImmune response genesBioinformatics analysisResponse genesGlutathione biosynthesisLens morphogenesisMolecular consequencesUpstream regulatorMicrophthalmia phenotype
2020
Overview of PAX gene family: analysis of human tissue-specific variant expression and involvement in human disease
Thompson B, Davidson EA, Liu W, Nebert DW, Bruford EA, Zhao H, Dermitzakis ET, Thompson DC, Vasiliou V. Overview of PAX gene family: analysis of human tissue-specific variant expression and involvement in human disease. Human Genetics 2020, 140: 381-400. PMID: 32728807, PMCID: PMC7939107, DOI: 10.1007/s00439-020-02212-9.Peer-Reviewed Original ResearchConceptsPax proteinsTranscript variant expressionHuman diseasesFunctional rolePax gene familyMyriad human diseasesPax family membersVariant expressionPotential functional significanceBox genesPax genesGene familyTranscriptional regulationCell identityLineage determinationOrgan developmentTranscription factorsMaster regulatorAdditional speciesCell differentiationDevelopmental diseasesGenomic updateFunctional significanceProteinGenes