Isabelle Scheers

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.

The paper investigates how mitochondrial DNA variants affect telomere length using transmitochondrial cybrids, finding an inverse correlation between donor telomere length and mitochondrial ROS levels.