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The p.P888L SAP97 polymorphism increases the transient outward current (Ito,f) and abbreviates the action potential duration and the QT interval.
Tinaquero D, Crespo-García T, Utrilla RG, Nieto-Marín P, González-Guerra A, Rubio-Alarcón M, Cámara-Checa A, Dago M, Matamoros M, Pérez-Hernández M, Tamargo M, Cebrián J, Jalife J, Tamargo J, Bernal JA, Caballero R, Delpón E; ITACA Investigators. Tinaquero D, et al. Among authors: tamargo j, tamargo m. Sci Rep. 2020 Jul 1;10(1):10707. doi: 10.1038/s41598-020-67109-z. Sci Rep. 2020. PMID: 32612162 Free PMC article.
Founder mutation in myosin-binding protein C with an early onset and a high penetrance in males.
Méndez I, Fernández AI, Espinosa MÁ, Cuenca S, Lorca R, Rodríguez JF, Tamargo M, García-Montero M, Gómez C, Vilches S, Vázquez N, Álvarez R, Medrano C, Yotti R, Fernández-Avilés F, Bermejo J. Méndez I, et al. Among authors: tamargo m. Open Heart. 2021 Sep;8(2):e001789. doi: 10.1136/openhrt-2021-001789. Open Heart. 2021. PMID: 34588271 Free PMC article.
ST-Segment Elevation Myocardial Infarction Following Transcatheter Aortic Valve Replacement.
Faroux L, Lhermusier T, Vincent F, Nombela-Franco L, Tchétché D, Barbanti M, Abdel-Wahab M, Windecker S, Auffret V, Campanha-Borges DC, Fischer Q, Muñoz-Garcia E, Trillo-Nouche R, Jorgensen T, Serra V, Toggweiler S, Tarantini G, Saia F, Durand E, Donaint P, Gutierrez-Ibanes E, Wijeysundera HC, Veiga G, Patti G, D'Ascenzo F, Moreno R, Hengstenberg C, Chamandi C, Asmarats L, Hernandez-Antolin R, Gomez-Hospital JA, Cordoba-Soriano JG, Landes U, Jimenez-Diaz VA, Cruz-Gonzalez I, Nejjari M, Roubille F, Van Belle É, Armijo G, Siddiqui S, Costa G, Elsaify S, Pilgrim T, le Breton H, Urena M, Muñoz-Garcia AJ, Sondergaard L, Bach-Oller M, Fraccaro C, Eltchaninoff H, Metz D, Tamargo M, Fradejas-Sastre V, Rognoni A, Bruno F, Goliasch G, Santaló-Corcoy M, Jimenez-Mazuecos J, Webb JG, Muntané-Carol G, Paradis JM, Mangieri A, Ribeiro HB, Campelo-Parada F, Rodés-Cabau J. Faroux L, et al. Among authors: tamargo m. J Am Coll Cardiol. 2021 May 4;77(17):2187-2199. doi: 10.1016/j.jacc.2021.03.014. J Am Coll Cardiol. 2021. PMID: 33926655 Free article.
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