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Page 1
Extracellular cysteine disulfide bond break at Cys122 disrupts PIP2-dependent Kir2.1 channel function and leads to arrhythmias in Andersen-Tawil Syndrome.
Cruz FM, Macías Á, Moreno-Manuel AI, Gutiérrez LK, Vera-Pedrosa ML, Martínez-Carrascoso I, Pérez PS, Robles JMR, Bermúdez-Jiménez FJ, Díaz-Agustín A, de Benito FM, Santiago SA, Braza-Boils A, Martín-Martínez M, Gutierrez-Rodríguez M, Bernal JA, Zorio E, Jiménez-Jaimez J, Jalife J. Cruz FM, et al. Among authors: bernal ja. bioRxiv [Preprint]. 2023 Jun 8:2023.06.07.544151. doi: 10.1101/2023.06.07.544151. bioRxiv. 2023. PMID: 37333254 Free PMC article. Preprint.
Exercise triggers ARVC phenotype in mice expressing a disease-causing mutated version of human plakophilin-2.
Cruz FM, Sanz-Rosa D, Roche-Molina M, García-Prieto J, García-Ruiz JM, Pizarro G, Jiménez-Borreguero LJ, Torres M, Bernad A, Ruíz-Cabello J, Fuster V, Ibáñez B, Bernal JA. Cruz FM, et al. Among authors: bernal ja. J Am Coll Cardiol. 2015 Apr 14;65(14):1438-50. doi: 10.1016/j.jacc.2015.01.045. J Am Coll Cardiol. 2015. PMID: 25857910 Free article.
The pharmaceutical solvent N-methyl-2-pyrollidone (NMP) attenuates inflammation through Krüppel-like factor 2 activation to reduce atherogenesis.
Roche-Molina M, Hardwick B, Sanchez-Ramos C, Sanz-Rosa D, Gewert D, Cruz FM, Gonzalez-Guerra A, Andres V, Palma JA, Ibanez B, Mckenzie G, Bernal JA. Roche-Molina M, et al. Among authors: bernal ja. Sci Rep. 2020 Jul 15;10(1):11636. doi: 10.1038/s41598-020-68350-2. Sci Rep. 2020. PMID: 32669659 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: bernal ja. Cardiovasc Res. 2022 Mar 16;118(4):1046-1060. doi: 10.1093/cvr/cvab045. Cardiovasc Res. 2022. PMID: 33576403
Extracellular Kir2.1C122Y Mutant Upsets Kir2.1-PIP2 Bonds and Is Arrhythmogenic in Andersen-Tawil Syndrome.
Cruz FM, Macías Á, Moreno-Manuel AI, Gutiérrez LK, Vera-Pedrosa ML, Martínez-Carrascoso I, Sánchez Pérez P, Ruiz Robles JM, Bermúdez-Jiménez FJ, Díaz-Agustín A, Martínez de Benito F, Arias-Santiago S, Braza-Boils A, Martín-Martínez M, Gutierrez-Rodríguez M, Bernal JA, Zorio E, Jiménez-Jaimez J, Jalife J. Cruz FM, et al. Among authors: bernal ja. Circ Res. 2024 Apr 12;134(8):e52-e71. doi: 10.1161/CIRCRESAHA.123.323895. Epub 2024 Mar 18. Circ Res. 2024. PMID: 38497220 Free 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: bernal ja. Sci Rep. 2020 Jul 1;10(1):10707. doi: 10.1038/s41598-020-67109-z. Sci Rep. 2020. PMID: 32612162 Free PMC article.
Titin Missense Variants as a Cause of Familial Dilated Cardiomyopathy.
Domínguez F, Lalaguna L, Martínez-Martín I, Piqueras-Flores J, Rasmussen TB, Zorio E, Giovinazzo G, Prados B, Ochoa JP, Bornstein B, González-López E, Velázquez-Carreras D, Pricolo MR, Gutiérrez-Agüera F, Bernal JA, Herrero-Galán E, Alegre-Cebollada J, Lara-Pezzi E, García-Pavía P. Domínguez F, et al. Among authors: bernal ja. Circulation. 2023 May 30;147(22):1711-1713. doi: 10.1161/CIRCULATIONAHA.122.062833. Epub 2023 May 30. Circulation. 2023. PMID: 37253077 No abstract available.
81 results