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
2016
Endothelin-1 Gene Polymorphism and Its Level Predict the Risk of Venous Thromboembolism in Male Indian Population
Kumari B, Prabhakar A, Sahu A, Chatterjee T, Tyagi T, Gupta N, Nair V, Ashraf M. Endothelin-1 Gene Polymorphism and Its Level Predict the Risk of Venous Thromboembolism in Male Indian Population. Clinical And Applied Thrombosis/Hemostasis 2016, 23: 429-437. PMID: 27481876, DOI: 10.1177/1076029616661416.Peer-Reviewed Original ResearchConceptsVenous thromboembolismGene polymorphismsEndothelin-1Plasma levelsHealthy controlsG polymorphismOccurrence of VTEEnzyme (ACE) I/DEndothelial nitric oxide synthaseIndian populationEndothelin-1 gene polymorphismsLogistic regression model analysisEnzyme-linked immunoassay kitNitric oxide synthaseRegression model analysisEndothelial functionClinical progressionVascular functionOxide synthaseG alleleSignificant associationIndividual susceptibilityImmunoassay kitPatientsThromboembolism