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Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.
Guo DC, Papke CL, Tran-Fadulu V, Regalado ES, Avidan N, Johnson RJ, Kim DH, Pannu H, Willing MC, Sparks E, Pyeritz RE, Singh MN, Dalman RL, Grotta JC, Marian AJ, Boerwinkle EA, Frazier LQ, LeMaire SA, Coselli JS, Estrera AL, Safi HJ, Veeraraghavan S, Muzny DM, Wheeler DA, Willerson JT, Yu RK, Shete SS, Scherer SE, Raman CS, Buja LM, Milewicz DM. Guo DC, et al. Among authors: sparks e. Am J Hum Genet. 2009 May;84(5):617-27. doi: 10.1016/j.ajhg.2009.04.007. Epub 2009 Apr 30. Am J Hum Genet. 2009. PMID: 19409525 Free PMC article.
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.
Guo DC, Pannu H, Tran-Fadulu V, Papke CL, Yu RK, Avidan N, Bourgeois S, Estrera AL, Safi HJ, Sparks E, Amor D, Ades L, McConnell V, Willoughby CE, Abuelo D, Willing M, Lewis RA, Kim DH, Scherer S, Tung PP, Ahn C, Buja LM, Raman CS, Shete SS, Milewicz DM. Guo DC, et al. Among authors: sparks e. Nat Genet. 2007 Dec;39(12):1488-93. doi: 10.1038/ng.2007.6. Epub 2007 Nov 11. Nat Genet. 2007. PMID: 17994018
Genomics and cardiovascular disease.
Frazier L, Johnson RL, Sparks E. Frazier L, et al. Among authors: sparks e. J Nurs Scholarsh. 2005;37(4):315-21. doi: 10.1111/j.1547-5069.2005.00055.x. J Nurs Scholarsh. 2005. PMID: 16396403 Review.
Heritable cardiovascular disease in women.
Sparks EA, Frazier LQ. Sparks EA, et al. J Obstet Gynecol Neonatal Nurs. 2002 Mar-Apr;31(2):217-28. J Obstet Gynecol Neonatal Nurs. 2002. PMID: 11926406 Review.
Biobanks and biomarker research in cardiovascular disease.
Frazier L, Sparks E, Sanner JE, Henderson M. Frazier L, et al. Among authors: sparks e. J Cardiovasc Nurs. 2008 Mar-Apr;23(2):153-8. doi: 10.1097/01.JCN.0000305075.51399.1c. J Cardiovasc Nurs. 2008. PMID: 18382258 Review.
ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm.
Gould RA, Aziz H, Woods CE, Seman-Senderos MA, Sparks E, Preuss C, Wünnemann F, Bedja D, Moats CR, McClymont SA, Rose R, Sobreira N, Ling H, MacCarrick G, Kumar AA, Luyckx I, Cannaerts E, Verstraeten A, Björk HM, Lehsau AC, Jaskula-Ranga V, Lauridsen H, Shah AA, Bennett CL, Ellinor PT, Lin H, Isselbacher EM, Lino Cardenas CL, Butcher JT, Hughes GC, Lindsay ME; Baylor-Hopkins Center for Mendelian Genomics; MIBAVA Leducq Consortium; Mertens L, Franco-Cereceda A, Verhagen JMA, Wessels M, Mohamed SA, Eriksson P, Mital S, Van Laer L, Loeys BL, Andelfinger G, McCallion AS, Dietz HC. Gould RA, et al. Among authors: sparks e. Nat Genet. 2019 Jan;51(1):42-50. doi: 10.1038/s41588-018-0265-y. Epub 2018 Nov 19. Nat Genet. 2019. PMID: 30455415 Free PMC article.
171 results