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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: braza boils a. bioRxiv [Preprint]. 2023 Jun 8:2023.06.07.544151. doi: 10.1101/2023.06.07.544151. bioRxiv. 2023. PMID: 37333254 Free PMC article. Preprint.
Clinical characteristics and determinants of the phenotype in TMEM43 arrhythmogenic right ventricular cardiomyopathy type 5.
Dominguez F, Zorio E, Jimenez-Jaimez J, Salguero-Bodes R, Zwart R, Gonzalez-Lopez E, Molina P, Bermúdez-Jiménez F, Delgado JF, Braza-Boïls A, Bornstein B, Toquero J, Segovia J, Van Tintelen JP, Lara-Pezzi E, Garcia-Pavia P. Dominguez F, et al. Heart Rhythm. 2020 Jun;17(6):945-954. doi: 10.1016/j.hrthm.2020.01.035. Epub 2020 Feb 13. Heart Rhythm. 2020. PMID: 32062046 Free article.
The EP300/TP53 pathway, a suppressor of the Hippo and canonical WNT pathways, is activated in human hearts with arrhythmogenic cardiomyopathy in the absence of overt heart failure.
Rouhi L, Fan S, Cheedipudi SM, Braza-Boïls A, Molina MS, Yao Y, Robertson MJ, Coarfa C, Gimeno JR, Molina P, Gurha P, Zorio E, Marian AJ. Rouhi L, et al. Among authors: braza boils a. Cardiovasc Res. 2022 May 6;118(6):1466-1478. doi: 10.1093/cvr/cvab197. Cardiovasc Res. 2022. PMID: 34132777 Free PMC article.
31 results