2019
CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation
Esteghamat F, Broughton JS, Smith E, Cardone R, Tyagi T, Guerra M, Szabó A, Ugwu N, Mani MV, Azari B, Kayingo G, Chung S, Fathzadeh M, Weiss E, Bender J, Mane S, Lifton RP, Adeniran A, Nathanson MH, Gorelick FS, Hwa J, Sahin-Tóth M, Belfort-DeAguiar R, Kibbey RG, Mani A. CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation. Nature Genetics 2019, 51: 1233-1243. PMID: 31358993, PMCID: PMC6675645, DOI: 10.1038/s41588-019-0470-3.Peer-Reviewed Original ResearchConceptsEarly-onset atherosclerosisMetabolic syndromeMetabolic syndrome traitsWhole-exome sequence analysisAttractive therapeutic targetPlatelet hyperactivationInsulin levelsPlasma insulinPlasma levelsInsulin sensitivityInsulin secretionTherapeutic targetPlatelet activationDisease mechanismsSyndrome traitsAtherosclerosisFunction mutationsSyndromeNovel lossInsulinMutationsSecretion
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