Mechanistic Analysis of Channel Dysfunction Caused by Diverse Pathogenic Polycystin Pore Helix Variants
I. Research Background and Scientific Significance Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a common monogenic hereditary kidney disease that affects millions of people worldwide. ADPKD is primarily caused by mutations in the renal polycystin family (especially the PKD1 and PKD2 genes), which encode channel subunits pivotal for ion c...