2018
Genome-Wide Expression Analysis Suggests Hypoxia-Triggered Hyper-Coagulation Leading to Venous Thrombosis at High Altitude
Jha PK, Sahu A, Prabhakar A, Tyagi T, Chatterjee T, Arvind P, Nair J, Gupta N, Kumari B, Nair V, Bajaj N, Shanker J, Sharma M, Kumar B, Ashraf MZ. Genome-Wide Expression Analysis Suggests Hypoxia-Triggered Hyper-Coagulation Leading to Venous Thrombosis at High Altitude. Thrombosis And Haemostasis 2018, 118: 1279-1295. PMID: 29864786, DOI: 10.1055/s-0038-1657770.Peer-Reviewed Original ResearchMeSH KeywordsAdultAltitudeBlood CoagulationBlood Coagulation DisordersCase-Control StudiesGene Expression ProfilingGene Regulatory NetworksGene-Environment InteractionGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansHypoxiaMalePhenotypeRisk AssessmentRisk FactorsTranscriptomeVenous ThrombosisConceptsDeep vein thrombosisGenome-wide expression analysisDifferential expressionVenous thromboembolismEnrichment of genesGenes/pathwaysGene expression profilesHypoxia-responsive genesGene expression profilingRisk factorsGene OntologyOnset of VTEBioinformatics analysisExpression analysisExpression profilingExpression profilesPathway analysisMolecular mechanismsAdditional risk factorsQuantitative reverse transcription polymerase chain reactionReverse transcription-polymerase chain reactionPathophysiology of DVTCommon cardiovascular diseaseRelevant pathwaysGenes
2011
Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism
Fernandez TV, Sanders SJ, Yurkiewicz IR, Ercan-Sencicek AG, Kim YS, Fishman DO, Raubeson MJ, Song Y, Yasuno K, Ho WS, Bilguvar K, Glessner J, Chu SH, Leckman JF, King RA, Gilbert DL, Heiman GA, Tischfield JA, Hoekstra PJ, Devlin B, Hakonarson H, Mane SM, Günel M, State MW. Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism. Biological Psychiatry 2011, 71: 392-402. PMID: 22169095, PMCID: PMC3282144, DOI: 10.1016/j.biopsych.2011.09.034.Peer-Reviewed Original ResearchConceptsCopy number variationsRare copy number variationsNovel risk regionsEnrichment of genesGamma-aminobutyric acid receptor genesNervous system developmentEtiology of TSParent-child triosRare copy number variantsCopy number variantsGene mappingPathway analysisDe novo eventsAxon guidanceCell adhesionMolecular pathwaysNumber variationsRelevant pathwaysCNV analysisNumber variantsGenesReceptor geneDe novoNovo eventsPathway
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