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