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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. Cardiovasc Res. 2022 Mar 16;118(4):1046-1060. doi: 10.1093/cvr/cvab045. Cardiovasc Res. 2022. PMID: 33576403
Zfhx3 Transcription Factor Represses the Expression of SCN5A Gene and Decreases Sodium Current Density (INa).
Rubio-Alarcón M, Cámara-Checa A, Dago M, Crespo-García T, Nieto-Marín P, Marín M, Merino JL, Toquero J, Salguero-Bodes R, Tamargo J, Cebrián J, Delpón E, Caballero R. Rubio-Alarcón M, et al. Among authors: nieto marin p. Int J Mol Sci. 2021 Dec 2;22(23):13031. doi: 10.3390/ijms222313031. Int J Mol Sci. 2021. PMID: 34884836 Free PMC article.
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: nieto marin p. 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.
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: nieto marin p. Sci Rep. 2020 Jul 1;10(1):10707. doi: 10.1038/s41598-020-67109-z. Sci Rep. 2020. PMID: 32612162 Free PMC article.
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: nieto marin p. 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.
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. 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.
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. Among authors: nieto marin p. Front Physiol. 2017 Nov 14;8:903. doi: 10.3389/fphys.2017.00903. eCollection 2017. Front Physiol. 2017. PMID: 29184507 Free PMC article.