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
2014
Study of Associated Genetic Variants in Indian Subjects Reveals the Basis of Ethnicity Related Differences in Susceptibility to Venous Thromboembolism
Kumari B, Srivastava S, Chatterjee T, Vardhan R, Tyagi T, Gupta N, Sahu A, Chandra K, Ashraf M. Study of Associated Genetic Variants in Indian Subjects Reveals the Basis of Ethnicity Related Differences in Susceptibility to Venous Thromboembolism. Thrombosis 2014, 2014: 182762. PMID: 25349733, PMCID: PMC4198785, DOI: 10.1155/2014/182762.Peer-Reviewed Original ResearchProthrombin 20210G/AGenetic variantsAssociated genetic variantsTissue factor pathway inhibitorT mutationCandidate genesGenesMutationsPlasminogen activator inhibitor-1Protective variantsPathway inhibitorActivator inhibitor-1Inhibitor-1Susceptibility of individualsPCR-RFLPFactor pathway inhibitorSusceptibility of IndiansVariantsSusceptibilityMTHFR geneInhibitors