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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. Among authors: rapun 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
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. Among authors: rapun j. 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.
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: rapun 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.