Carole Proust

Cerebral Small Vessel Disease genetic determinant TRIM47 controls brain homeostasis via the NRF2 antioxidant system

This study identifies TRIM47 as a genetic determinant of cerebral small vessel disease, showing it regulates brain homeostasis through the NRF2 antioxidant pathway by stabilizing NRF2 protein levels.

Unveiling Endoglin non canonical regulation: spotlight on the new role of the uPAR pathway

This study identifies ENG 5UTR variants altering upstream ORFs that reduce Endoglin levels and links uPAR pathway loci to soluble Endoglin levels through proteogenomics and functional assays.

Novel uAUG creating variants in the 5UTR of ENG causing Hereditary Hemorrhagic Telangiectasia

This paper identifies two novel 5UTR ENG variants in HHT patients that create uAUGs, leading to uoORFs and reduced ENG protein levels and function.

An artificial neural network approach integrating plasma proteomics and genetic data identifies PLXNA4 as a new susceptibility locus for pulmonary embolism.

Genome wide association analysis in dilated cardiomyopathy reveals two new key players in systolic heart failure on chromosome 3p25.1 and 22q11.23

This study performs a large GWAS on dilated cardiomyopathy, identifying two new loci and confirming two existing ones, with potential therapeutic implications.

A novel rare c. -39C>T mutation in the PROS1 5'UTR causing PS deficiency by creating a new upstream translation initiation codon and inhibiting the production of the natural protein.

MORFEE: a new tool for detecting and annotating single nucleotide variants creating premature ATG codons from VCF files

MORFEE identifies and annotates single nucleotide variants in 5UTR regions that create upstream open reading frames (uORFs) from VCF files, aiding in interpreting genetic association signals and disease mechanisms.