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2020 1
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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. 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
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: camara checa a. 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: camara checa a. Int J Mol Sci. 2021 Dec 2;22(23):13031. doi: 10.3390/ijms222313031. Int J Mol Sci. 2021. PMID: 34884836 Free PMC article.
Reply to Benndorff and DiFrancesco: Reliable human HCN4 single-channel recordings using the cell-attached configuration in expression systems.
Cámara-Checa A, Rubio-Alarcón M, Dago M, Crespo-García T, Rapún J, Marín M, Tamargo J, Gómez R, Caballero R, Delpón E. Cámara-Checa A, et al. Proc Natl Acad Sci U S A. 2024 Apr 16;121(16):e2402992121. doi: 10.1073/pnas.2402992121. Epub 2024 Apr 8. Proc Natl Acad Sci U S A. 2024. PMID: 38588416 Free PMC article. No abstract available.
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: camara checa a. Sci Rep. 2020 Jul 1;10(1):10707. doi: 10.1038/s41598-020-67109-z. Sci Rep. 2020. PMID: 32612162 Free PMC article.