Amandine Viau

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 identifies biomechanical changes in the tubular basement membrane as drivers of cyst formation in ADPKD, linking cilia and polycystin-1 function.

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

The paper shows primary cilia on kidney tubular cells initiate a fibro-inflammatory program in response to bacterial components, linking pathogen detection to kidney disease progression.

The paper identifies ANKS3/BICC1 as a post-transcriptional regulator of NPHP1 transcripts, linking it to ciliopathy phenotypes through transcript decay and ciliary dysfunction.