Jean‐Yves Masson

This study identifies Polθ as a therapeutic target in DNMT3A-mutated leukemia by showing its essential role in DNA repair and replication fork restart, and demonstrates that its inhibition enhances standard therapies.

The paper investigates five BRIP1/FANCJ variants for their clinical relevance in breast and ovarian cancer, finding three likely damaging variants associated with cellular sensitivity to chemotherapy drugs.

This study identifies ASCC3 as a helicase that unwinds DNA at stalled replication forks, promoting fork reversal and preventing genomic instability during replication stress.

The paper shows HMCES causes replication fork instability in HRD cells during BER of 5hmdC-derived lesions, leading to chromosomal damage and cell death.

The paper investigates CAG repeat expansions and their association with cell death in specific brain regions in Huntington's disease using molecular profiling.

The paper investigates the roles of canonical and alternative RPA in CAG repeat diseases, finding that Alt-RPA antagonizes RPA's suppression of CAG expansions, contributing to disease pathogenesis.

The paper identifies SCAI as a novel regulator that modulates the UV-induced replicative stress response by inhibiting EXO1 activity and preventing excessive RPA-ssDNA accumulation.

The paper shows FAN1 nuclease processes and pauses on slipped-DNA repeats, reducing repeat expansions and delaying disease onset.

This paper identifies FANCI c.1813C>T as a candidate familial ovarian cancer risk allele in a French Canadian population with founder effects.

This study shows RAD51 inhibits non-conservative DNA repair pathways by blocking ssDNA annealing, independent of its catalytic activity.

The paper identifies DDX5 as an RNA helicase involved in R-loop resolution, showing that PRMT5-mediated arginine methylation of DDX5's RGG/RG motif regulates its interaction with XRN2 and R-loop degradation.