Carole Proust
Bordeaux, France
Last Updated: 09/26/2026
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Found 25 publications
Targeting a Pathogenic Variant Creating an Upstream AUG in the ENG 5' Untranslated Region with Antisense Oligonucleotides Fails to Restore Protein Expression.
Journal: Nucleic acid therapeutics
Published: November 17, 2025
Overlapping upstream ORFs ending at c.125 lead to reduced Endoglin, contributing to Hereditary Hemorrhagic Telangiectasia.
Journal: Communications biology
Published: April 23, 2025
DNA-pools targeted-sequencing as a robust cost-effective method to detect rare variants: Application to dilated cardiomyopathy genetic diagnosis.
Journal: Clinical genetics
Published: June 23, 2023
uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia.
Journal: NPJ genomic medicine
Published: February 27, 2023
Genome-wide association study of a semicontinuous trait: illustration of the impact of the modeling strategy through the study of Neutrophil Extracellular Traps levels.
Journal: NAR genomics and bioinformatics
Published: January 25, 2023
Common and Rare 5'UTR Variants Altering Upstream Open Reading Frames in Cardiovascular Genomics.
Journal: Frontiers in cardiovascular medicine
Published: December 21, 2021
Targeting Pdzrn3 maintains adult blood-brain barrier and central nervous system homeostasis.
Journal: Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism
Published: October 13, 2021
An artificial neural network approach integrating plasma proteomics and genetic data identifies PLXNA4 as a new susceptibility locus for pulmonary embolism.
Journal: Scientific reports
Published: March 18, 2021
A rare coding mutation in the MAST2 gene causes venous thrombosis in a French family with unexplained thrombophilia: The Breizh MAST2 Arg89Gln variant.
Journal: PLoS genetics
Published: May 08, 2020
A novel rare c.-39C>T mutation in the PROS1 5'UTR causing PS deficiency by creating a new upstream translation initiation codon.
Journal: Clinical science (London, England : 1979)
Published: April 06, 2020
Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23.
Journal: European heart journal
Published: April 03, 2020
Last Updated: 09/26/2026