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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: cebrian j. 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: cebrian j. Cardiovasc Res. 2022 Mar 16;118(4):1046-1060. doi: 10.1093/cvr/cvab045. Cardiovasc Res. 2022. PMID: 33576403
A gain-of-function HCN4 mutant in the HCN domain is responsible for inappropriate sinus tachycardia in a Spanish family.
Cámara-Checa A, Perin F, Rubio-Alarcón M, Dago M, Crespo-García T, Rapún J, Marín M, Cebrián J, Gómez R, Bermúdez-Jiménez F, Monserrat L, Tamargo J, Caballero R, Jiménez-Jáimez J, Delpón E. Cámara-Checa A, et al. Among authors: cebrian j. Proc Natl Acad Sci U S A. 2023 Dec 5;120(49):e2305135120. doi: 10.1073/pnas.2305135120. Epub 2023 Nov 30. Proc Natl Acad Sci U S A. 2023. PMID: 38032931 Free PMC article.
Coexistent HCN4 and GATA5 rare variants and Atrial Fibrillation in a large Spanish Family.
Fraile A, Cebrián J, Thuissard-Vasallo I, Pérez-Martín S, Casado R, Gil-Fournier B, Alonso-Martín J, Tamargo J, Caballero R, Delpón E, Cosío FG. Fraile A, et al. Among authors: cebrian j. Can J Cardiol. 2024 Mar 1:S0828-282X(24)00189-2. doi: 10.1016/j.cjca.2024.02.024. Online ahead of print. Can J Cardiol. 2024. PMID: 38432398
Variable Penetrance and Expressivity of a Rare Pore Loss-of-Function Mutation (p.L889V) of Nav1.5 Channels in Three Spanish Families.
Gallego-Delgado M, Cámara-Checa A, Rubio-Alarcón M, Heredero-Jung D, de la Fuente-Blanco L, Rapún J, Plata-Izquierdo B, Pérez-Martín S, Cebrián J, Moreno de Redrojo L, García-Berrocal B, Delpón E, Sánchez PL, Villacorta E, Caballero R. Gallego-Delgado M, et al. Among authors: cebrian j. Int J Mol Sci. 2024 Apr 25;25(9):4686. doi: 10.3390/ijms25094686. Int J Mol Sci. 2024. PMID: 38731905 Free PMC article.
199 results