Nathalie Gaborit

This study investigates the pathogenic effects of the DES p.R406W mutation, showing it causes electrical and structural heart remodeling linked to arrhythmias and sudden cardiac death.

The paper uses Drosophila to test if genes near BrS risk loci affect cardiac function, identifying potential candidates for further study.

This study shows WT1 regulates SCN5A expression and cardiac conduction in Brugada syndrome through a regulatory element in the RV.

This paper demonstrates that overexpressing the N-terminal fragment of Nav1.5 restores cardiac sodium current and electrical activity in models of Brugada syndrome.

The paper identifies transcriptional regulatory networks during human cardiac development by analyzing transcriptomic profiles and uncovering novel interactions among key transcription factors.