2017
Whole genome sequencing of an African American family highlights toll like receptor 6 variants in Kawasaki disease susceptibility
Kim J, Shimizu C, Kingsmore S, Veeraraghavan N, Levy E, dos Santos A, Yang H, Flatley J, Hoang L, Hibberd M, Tremoulet A, Harismendy O, Ohno-Machado L, Burns J. Whole genome sequencing of an African American family highlights toll like receptor 6 variants in Kawasaki disease susceptibility. PLOS ONE 2017, 12: e0170977. PMID: 28151979, PMCID: PMC5289527, DOI: 10.1371/journal.pone.0170977.Peer-Reviewed Original ResearchConceptsWhole genome sequencesGenome-wide association studiesToll-like receptor 6Single nucleotide variantsCommon disease-rare variant hypothesisExpression quantitative trait loci (eQTL) analysisDifferential expressionQuantitative trait locus (QTL) analysisCommon disease–common variantPathogen-associated molecular pattern recognitionIntegrative genomics approachIntronic single nucleotide variantsComplex genetic diseasesSequence quality scoresMolecular pattern recognitionWhole-genome sequencingGenomic approachesTranscriptome dataGenome sequenceSequence variationLocus analysisGenome sequencingAssociation studiesFunction of genotypeNucleotide variants
2013
Differential Expression of miR-145 in Children with Kawasaki Disease
Shimizu C, Kim J, Stepanowsky P, Trinh C, Lau H, Akers J, Chen C, Kanegaye J, Tremoulet A, Ohno-Machado L, Burns J. Differential Expression of miR-145 in Children with Kawasaki Disease. PLOS ONE 2013, 8: e58159. PMID: 23483985, PMCID: PMC3590129, DOI: 10.1371/journal.pone.0058159.Peer-Reviewed Original ResearchMeSH KeywordsArteriesBase SequenceChildChild, PreschoolCluster AnalysisGene Expression RegulationHumansInfantMicroRNAsModels, BiologicalMolecular Sequence DataMucocutaneous Lymph Node SyndromeReal-Time Polymerase Chain ReactionSequence AlignmentSequence Analysis, DNASignal TransductionTransforming Growth Factor betaConceptsTGF-β pathwayGene expressionMiR-145Small non-coding RNAsKawasaki disease pathogenesisExtracellular vesiclesSmall RNA speciesPost-transcriptional levelDiscovery of microRNAsKawasaki diseaseNon-coding RNAsExpression of genesDisease pathogenesisSmall extracellular vesiclesSmall RNAsRNA speciesTarget genesTop pathwaysVascular smooth muscle cellsPathway analysisDifferentiation of neutrophilsDifferential expressionMicroRNAsArterial wallGeneration of myofibroblasts