Publicaciones (14) Publicaciones de JORGE CEBRIÁN CASTILLO

2024

  1. Coexistent HCN4 and GATA5 Rare Variants and Atrial Fibrillation in a Large Spanish Family

    Canadian Journal of Cardiology, Vol. 40, Núm. 7, pp. 1270-1280

  2. Electrophoretic Mobility Assay to Separate Supercoiled, Catenated, and Knotted DNA Molecules

    Bio-protocol, Vol. 14, Núm. 9

  3. 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

  3. Large-scale expansions of Friedreich's ataxia GAA•TTC repeats in an experimental human system: role of DNA replication and prevention by LNA-DNA oligonucleotides and PNA oligomers

    Nucleic Acids Research, Vol. 51, Núm. 16, pp. 8532-8549

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. Rad9-mediated checkpoint activation is responsible for elevated expansions of GAA repeats in CST-deficient yeast

    Genetics, Vol. 219, Núm. 2

  2. Two-dimensional gel electrophoresis to study the activity of type iia topoisomerases on plasmid replication intermediates

    Biology, Vol. 10, Núm. 11

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

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

2019

  1. Mrc1 and Tof1 prevent fragility and instability at long CAG repeats by their fork stabilizing function

    Nucleic Acids Research, Vol. 47, Núm. 2, pp. 794-805

2015

  1. Direct evidence for the formation of precatenanes during DNA replication

    Journal of Biological Chemistry, Vol. 290, Núm. 22, pp. 13725-13735

  2. Electrophoretic mobility of supercoiled, catenated and knotted DNA molecules

    Nucleic Acids Research, Vol. 43, Núm. 4, pp. e24

2014

  1. Topoisomerase 2 is dispensable for the replication and segregation of small Yeast Artificial Chromosomes (YACs)

    PLoS ONE, Vol. 9, Núm. 8