Featured Publications
Genetically-regulated transcriptomics & copy number variation of proctitis points to altered mitochondrial and DNA repair mechanisms in individuals of European ancestry
Pathak GA, Polimanti R, Silzer TK, Wendt FR, Chakraborty R, Phillips NR. Genetically-regulated transcriptomics & copy number variation of proctitis points to altered mitochondrial and DNA repair mechanisms in individuals of European ancestry. BMC Cancer 2020, 20: 954. PMID: 33008348, PMCID: PMC7530964, DOI: 10.1186/s12885-020-07457-1.Peer-Reviewed Original ResearchMeSH KeywordsAgedDNA Copy Number VariationsDNA RepairEuropeHumansMaleMiddle AgedMitochondriaProctitisTranscriptomeConceptsWhole blood tissuesCopy number variationsNumber variationsGene expressionGenome-Wide Human SNP Array 6.0Mitochondrial apoptosis regulationRNA-seq informationGenetic variantsDNA repair mechanismsGene expression changesDNA repair processesGene expression associationsGene expression profilesGene network informationDNA repair genesCopy number dataCopy number analysisGene OntologyApoptosis regulationDNA repairEnriched pathwaysEnriched processesOrganismal injuryTranscriptomic profilesExpression changes
2020
Mitochondrial tRNA methylation in Alzheimer’s disease and progressive supranuclear palsy
Silzer T, Pathak G, Phillips N. Mitochondrial tRNA methylation in Alzheimer’s disease and progressive supranuclear palsy. BMC Medical Genomics 2020, 13: 71. PMID: 32429992, PMCID: PMC7236490, DOI: 10.1186/s12920-020-0727-9.Peer-Reviewed Original ResearchConceptsNuclear gene expressionGene-based association studyMitochondrial dysfunctionPost-transcriptional methylationRNA-seq dataSimilar expression profilesPotential molecular underpinningsNeurodegenerative disease pathophysiologyNuclear genesTOP transcriptsSequence-based methodsMitochondrial tRNAsTranslational efficiencyEnrichment testingContext of cancerGene expressionTRNA methylationDegree of methylationExpression profilesBiological processesAssociation studiesMolecular underpinningsMolecular processesMethylationMitochondrial function