PKD1 upstream open reading frames affect Polycystin-1 expression and polycystic kidney disease phenotypes
Autosomal dominant polycystic kidney disease (ADPKD) accounts for 5%–10% of prevalent end-stage kidney failure (ESKD). ADPKD cysts result from a loss of sufficient functional expression of PKD1/Polycystin-1 (PC1) in approximately 80% of families. Kidney disease severity correlates with the extent to which PC1 dosage is...