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Rad GTPase deficiency leads to cardiac hypertrophy.
Chang L, Zhang J, Tseng YH, Xie CQ, Ilany J, Brüning JC, Sun Z, Zhu X, Cui T, Youker KA, Yang Q, Day SM, Kahn CR, Chen YE. Chang L, et al. Among authors: day sm. Circulation. 2007 Dec 18;116(25):2976-2983. doi: 10.1161/CIRCULATIONAHA.107.707257. Epub 2007 Dec 3. Circulation. 2007. PMID: 18056528 Free PMC article.
Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy.
Helms AS, Davis FM, Coleman D, Bartolone SN, Glazier AA, Pagani F, Yob JM, Sadayappan S, Pedersen E, Lyons R, Westfall MV, Jones R, Russell MW, Day SM. Helms AS, et al. Among authors: day sm. Circ Cardiovasc Genet. 2014 Aug;7(4):434-43. doi: 10.1161/CIRCGENETICS.113.000448. Epub 2014 Jul 16. Circ Cardiovasc Genet. 2014. PMID: 25031304 Free PMC article.
Myosin Sequestration Regulates Sarcomere Function, Cardiomyocyte Energetics, and Metabolism, Informing the Pathogenesis of Hypertrophic Cardiomyopathy.
Toepfer CN, Garfinkel AC, Venturini G, Wakimoto H, Repetti G, Alamo L, Sharma A, Agarwal R, Ewoldt JK, Cloonan P, Letendre J, Lun M, Olivotto I, Colan S, Ashley E, Jacoby D, Michels M, Redwood CS, Watkins HC, Day SM, Staples JF, Padrón R, Chopra A, Ho CY, Chen CS, Pereira AC, Seidman JG, Seidman CE. Toepfer CN, et al. Among authors: day sm. Circulation. 2020 Mar 10;141(10):828-842. doi: 10.1161/CIRCULATIONAHA.119.042339. Epub 2020 Jan 27. Circulation. 2020. PMID: 31983222 Free PMC article.
Low Penetrance Sarcomere Variants Contribute to Additive Risk in Hypertrophic Cardiomyopathy.
Meisner JK, Renberg A, Smith ED, Tsan YC, Elder B, Bullard A, Merritt O, Zheng SL, Lakdawala N, Owens A, Ryan TD, Miller EM, Rossano J, Lin KY, Claggett B, Ashley E, Michels M, Lampert R, Stendahl JC, Abrahams D, Semsarian C, Parikh VN, Wheeler M, Ingles J, Day SM, Saberi S, Russell MW, Previs M, Ho C, Ware JS, Helms AS. Meisner JK, et al. Among authors: day sm. Circulation. 2024 Dec 5. doi: 10.1161/CIRCULATIONAHA.124.069398. Online ahead of print. Circulation. 2024. PMID: 39633578
213 results