Patrick Jacquemin

This study identifies HNF1B and NPHP3 mutations as causes of a new pancreatic disease, ciliogenic pancreatopathy, characterized by acinar atrophy and adipose replacement, and links ciliary dysfunction to pancreatic dysfunction in humans and mice.

This study generates two mouse models of nephronophthisis by inactivating Nphp3 at different developmental stages, revealing distinct disease mechanisms and treatment responses.

This study identifies a DNA methylation signature preserved during pancreatic carcinogenesis that distinguishes PDAC origins and influences tumor behavior.

This study identifies m3C as a novel mitochondrial mRNA modification catalyzed by METTL8, which promotes tumor progression by enhancing complex I activity and oncogenic pathways.