2020
Paired Box 9 (PAX9), the RNA polymerase II transcription factor, regulates human ribosome biogenesis and craniofacial development
Farley-Barnes KI, Deniz E, Overton MM, Khokha MK, Baserga SJ. Paired Box 9 (PAX9), the RNA polymerase II transcription factor, regulates human ribosome biogenesis and craniofacial development. PLOS Genetics 2020, 16: e1008967. PMID: 32813698, PMCID: PMC7437866, DOI: 10.1371/journal.pgen.1008967.Peer-Reviewed Original ResearchConceptsRNA polymerase II transcription factorsCraniofacial developmentTranscription factorsRibosome biogenesis factorsHuman ribosome biogenesisNeural crest developmentBox 9Tissue-specific mannerRibosome biogenesisRibosome productionHuman ribosomopathiesExpression of proteinsPax9 functionBiogenesis factorsXenopus tropicalisCrest developmentSmall subunitEmbryonic developmentCellular machinesUnexpected layerLevels of proteinRibosomopathiesHuman cellsProtein synthesisRibosomes
2017
Analysis of Craniocardiac Malformations in Xenopus using Optical Coherence Tomography
Deniz E, Jonas S, Hooper M, N. Griffin J, Choma MA, Khokha MK. Analysis of Craniocardiac Malformations in Xenopus using Optical Coherence Tomography. Scientific Reports 2017, 7: 42506. PMID: 28195132, PMCID: PMC5307353, DOI: 10.1038/srep42506.Peer-Reviewed Original ResearchConceptsCandidate genesFrog Xenopus tropicalisHuman congenital heart diseaseMost candidate genesNumerous candidate genesHuman genomic studiesXenopus tropicalisGenomic studiesXenopus heartGenetic mechanismsSequence variationFunctional analysisHuman phenotypesMolecular mechanismsHuman diseasesGenesCraniofacial defectsDisease mechanismsCraniofacial malformationsCritical first stepBirth defectsXenopusEfficient animal modelMechanismPhenocopies