Matthew A. Kavanaugh

Loss of ADAMTS9 disrupts ciliogenesis and collagen homeostasis resulting in Nephronophthisis-like polycystic kidneys.

ADAMTS9 mutations cause the ciliopathies nephronophthisis and Joubert syndrome. Here we demonstrated that deletion of ADAMTS9 in the proximal nephron led to polycystic kidney development in mice. In males, Adamts9 deletion caused kidneys to become highly cystic while remaining small without undergoing enlargement. In c...