Associated Papers
Ion channel traffic jams: the significance of trafficking deficiency in long QT syndrome.
Mondéjar-Parreño G et al.
Cell Discovery, 2025
A gain-of-function HCN4 mutant in the HCN domain is responsible for inappropriate sinus tachycardia in a Spanish family.
Cámara-Checa A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
38032931 (PubMed )
Supplement: pnas.2305135120.sapp.pdf
Identification of a new familial case of 3q29 deletion syndrome associated with cleft lip and palate via whole-exome sequencing.
Biedziak B et al.
American Journal of Medical Genetics. Part A, 2023
Zfhx3 Transcription Factor Represses the Expression of SCN5A Gene and Decreases Sodium Current Density (INa).
Rubio-Alarcón M et al.
International Journal of Molecular Sciences, 2021
34884836 (PubMed )
Supplement: ijms-22-13031-s001.zip › ijms-1469250-supplementary.pdf
The p.P888L SAP97 polymorphism increases the transient outward current (Ito,f) and abbreviates the action potential duration and the QT interval.
Tinaquero D et al.
Scientific Reports, 2020
Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis.
Taylan F et al.
The Journal of Allergy and Clinical Immunology, 2015
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