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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.
Sci Rep. 2020 Jul 1;10(1):10707. doi: 10.1038/s41598-020-67109-z.
Sci Rep. 2020.
PMID: 32612162
Free PMC article.
Tbx5 variants disrupt Nav1.5 function differently in patients diagnosed with Brugada or Long QT Syndrome.
Nieto-Marín P, Tinaquero D, Utrilla RG, Cebrián J, González-Guerra A, Crespo-García T, Cámara-Checa A, Rubio-Alarcón M, Dago M, Alfayate S, Filgueiras-Rama D, Peinado R, López-Sendón JL, Jalife J, Tamargo J, Bernal JA, Caballero R, Delpón E; ITACA Consortium Investigators.
Nieto-Marín P, et al. Among authors: utrilla rg.
Cardiovasc Res. 2022 Mar 16;118(4):1046-1060. doi: 10.1093/cvr/cvab045.
Cardiovasc Res. 2022.
PMID: 33576403
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Tbx20 controls the expression of the KCNH2 gene and of hERG channels.
Caballero R, Utrilla RG, Amorós I, Matamoros M, Pérez-Hernández M, Tinaquero D, Alfayate S, Nieto-Marín P, Guerrero-Serna G, Liu QH, Ramos-Mondragón R, Ponce-Balbuena D, Herron T, Campbell KF, Filgueiras-Rama D, Peinado R, López-Sendón JL, Jalife J, Delpón E, Tamargo J.
Caballero R, et al. Among authors: utrilla rg.
Proc Natl Acad Sci U S A. 2017 Jan 17;114(3):E416-E425. doi: 10.1073/pnas.1612383114. Epub 2017 Jan 3.
Proc Natl Acad Sci U S A. 2017.
PMID: 28049825
Free PMC article.
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Kir2.1-Nav1.5 Channel Complexes Are Differently Regulated than Kir2.1 and Nav1.5 Channels Alone.
Utrilla RG, Nieto-Marín P, Alfayate S, Tinaquero D, Matamoros M, Pérez-Hernández M, Sacristán S, Ondo L, de Andrés R, Díez-Guerra FJ, Tamargo J, Delpón E, Caballero R.
Utrilla RG, et al.
Front Physiol. 2017 Nov 14;8:903. doi: 10.3389/fphys.2017.00903. eCollection 2017.
Front Physiol. 2017.
PMID: 29184507
Free PMC article.
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Digenic Heterozigosity in SCN5A and CACNA1C Explains the Variable Expressivity of the Long QT Phenotype in a Spanish Family.
Nieto-Marín P, Jiménez-Jáimez J, Tinaquero D, Alfayate S, Utrilla RG, Rodríguez Vázquez Del Rey MDM, Perin F, Sarquella-Brugada G, Monserrat L, Brugada J, Tercedor L, Tamargo J, Delpón E, Caballero R.
Nieto-Marín P, et al. Among authors: utrilla rg.
Rev Esp Cardiol (Engl Ed). 2019 Apr;72(4):324-332. doi: 10.1016/j.rec.2018.03.012.
Rev Esp Cardiol (Engl Ed). 2019.
PMID: 29691127
English, Spanish.
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Brugada syndrome trafficking-defective Nav1.5 channels can trap cardiac Kir2.1/2.2 channels.
Pérez-Hernández M, Matamoros M, Alfayate S, Nieto-Marín P, Utrilla RG, Tinaquero D, de Andrés R, Crespo T, Ponce-Balbuena D, Willis BC, Jiménez-Vazquez EN, Guerrero-Serna G, da Rocha AM, Campbell K, Herron TJ, Díez-Guerra FJ, Tamargo J, Jalife J, Caballero R, Delpón E.
Pérez-Hernández M, et al. Among authors: utrilla rg.
JCI Insight. 2018 Sep 20;3(18):e96291. doi: 10.1172/jci.insight.96291. eCollection 2018 Sep 20.
JCI Insight. 2018.
PMID: 30232268
Free PMC article.
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