Publications by the researcher in collaboration with JORGE CEBRIÁN CASTILLO (5)

2024

  1. Variable Penetrance and Expressivity of a Rare Pore Loss-of-Function Mutation (p.L889V) of Nav1.5 Channels in Three Spanish Families

    International Journal of Molecular Sciences, Vol. 25, Núm. 9

2023

  1. A Cantú syndrome mutation produces dual effects on KATP channels by disrupting ankyrin B regulation

    The Journal of general physiology, Vol. 155, Núm. 1

  2. A gain-of-function HCN4 mutant in the HCN domain is responsible for inappropriate sinus tachycardia in a Spanish family

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 120

2022

  1. Tbx5 variants disrupt Nav1.5 function differently in patients diagnosed with Brugada or Long QT Syndrome

    Cardiovascular research, Vol. 118, Núm. 4, pp. 1046-1060

2021

  1. Zfhx3 transcription factor represses the expression of SCN5A gene and decreases sodium current density (Ina)

    International Journal of Molecular Sciences, Vol. 22, Núm. 23