Stefan Somlo

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

PERADIGM identifies rare disease-associated genes by integrating phenotype embeddings and patient similarity, outperforming traditional methods in detecting candidate genes for ADPKD, Marfan syndrome, and NF1.

This study investigates Glis3's role in ADPKD, finding that its dual inactivation with Pkd1 worsens kidney disease, affecting metabolism and circadian function.

This study identifies Anks3 as a key regulator of cilia-dependent polycystin signaling and shows its essential role in kidney homeostasis.

This study identifies a T-cell intrinsic mechanism by which APOL1 risk alleles contribute to kidney rejection through altered calcium signaling and T-cell activation.

This paper identifies Polycystin-1 as an atypical adhesion GPCR that activates a signaling pathway through Wnt ligands and mechanical stimuli, leading to GSK3 inhibition and ciliary removal.