Publications by authors named "Andrew B Ramnauth"
J Am Soc Nephrol
December 2021
Article Synopsis
- - Autosomal dominant polycystic kidney disease (ADPKD) is a genetic condition causing multiple cysts in kidneys, primarily due to mutations in the PKD1 and PKD2 genes that code for polycystin proteins.
- - Researchers analyzed DNA from 90 kidney cysts from 24 patients, discovering that 93% of these cysts had harmful somatic mutations in PKD1 or PKD2, mainly resulting in significant gene alterations like truncations.
- - The study suggests that cyst formation in ADPKD follows a cellular recessive mechanism, implicating both inherited and acquired mutations in the PKD1 and PKD2 genes within kidney cyst cells.
