2017
Overexpressed somatic alleles are enriched in functional elements in Breast Cancer
Restrepo P, Movassagh M, Alomran N, Miller C, Li M, Trenkov C, Manchev Y, Bahl S, Warnken S, Spurr L, Apanasovich T, Crandall K, Edwards N, Horvath A. Overexpressed somatic alleles are enriched in functional elements in Breast Cancer. Scientific Reports 2017, 7: 8287. PMID: 28811643, PMCID: PMC5557904, DOI: 10.1038/s41598-017-08416-w.Peer-Reviewed Original ResearchConceptsCancer Gene CensusDNA sequence dataCancer-implicated genesSomatic allelesCancer Genome AtlasGenome regionsSequence dataCancer transcriptomeCGC genesAllele contentAllele expressionFunctional variantsGenesGenetic variantsGenome AtlasTranscriptomeFunctional elementsAllelesExpressionVariantsVariant allele fractionRNAAllele fractionOverexpressionInformation content
2011
HapMap-based study of human soluble glutathione S-transferase enzymes
Polimanti R, Piacentini S, Fuciarelli M. HapMap-based study of human soluble glutathione S-transferase enzymes. Pharmacogenetics And Genomics 2011, 21: 665-672. PMID: 21799460, DOI: 10.1097/fpc.0b013e328349da4d.Peer-Reviewed Original ResearchConceptsNatural selectionGST genesGenetic variabilityGlutathione S-transferase enzymesSingle nucleotide polymorphism (SNP) diversityHuman genome regionsHuman demographic historyHuman genetic variabilityGST SNPsInternational HapMap ProjectSingle nucleotide substitutionChromosomal clustersDemographic historyGenome regionsGenome scanCellular detoxificationCandidate genesHapMap projectNucleotide substitutionsGenesHapMap dataComplex diseasesPopulation differencesF-statisticsSNPs
2009
A precise reconstruction of the emergence and constrained radiations of Escherichia coli O157 portrayed by backbone concatenomic analysis
Leopold S, Magrini V, Holt N, Shaikh N, Mardis E, Cagno J, Ogura Y, Iguchi A, Hayashi T, Mellmann A, Karch H, Besser T, Sawyer S, Whittam T, Tarr P. A precise reconstruction of the emergence and constrained radiations of Escherichia coli O157 portrayed by backbone concatenomic analysis. Proceedings Of The National Academy Of Sciences Of The United States Of America 2009, 106: 8713-8718. PMID: 19439656, PMCID: PMC2689004, DOI: 10.1073/pnas.0812949106.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsEffective population sizeSynonymous single nucleotide polymorphismsClusters of organismsGene clusterSpecies evolutionGenome regionsEvolutionary dynamicsPathogenic Escherichia coli O157Selective advantageEscherichia coli O157Related pathogensPopulation sizeNucleotide polymorphismsTenuous survivalPathogenic O157Coli O157OrganismsFalse associationsPathogensORFH7Backbone regionO157Mutations
2001
The DNA Damage Signal for Mdm2 Regulation, Trp53 Induction, and Sunburn Cell Formation In Vivo Originates from Actively Transcribed Genes
Brash D, Wikonkal N, Remenyik E, van der Horst G, Friedberg E, Cheo D, van Steeg H, Westerman A, van Kranen H. The DNA Damage Signal for Mdm2 Regulation, Trp53 Induction, and Sunburn Cell Formation In Vivo Originates from Actively Transcribed Genes. Journal Of Investigative Dermatology 2001, 117: 1234-1240. PMID: 11710938, DOI: 10.1046/j.0022-202x.2001.01554.x.Peer-Reviewed Original ResearchConceptsDNA photoproductsDNA damage signalsUnrepaired DNA lesionsCell formationSpecific genome regionsTumor suppressor proteinCsb-/- miceUltraviolet-induced apoptosisNucleotide excision repair genesApoptosis signal pathwayExcision repair genesActive genesMutant cellsGenome regionsDNA repairSuppressor proteinDamage signalsMDM2 regulationWild typeDNA lesionsPrevents cellsHomozygous inactivationGenesRepair genesDNA signals
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