Ontology highlight
ABSTRACT:
SUBMITTER: Senum SR
PROVIDER: S-EPMC8764120 | biostudies-literature | 2022 Jan
REPOSITORIES: biostudies-literature
Senum Sarah R SR Li Ying Sabrina M YSM Benson Katherine A KA Joli Giancarlo G Olinger Eric E Lavu Sravanthi S Madsen Charles D CD Gregory Adriana V AV Neatu Ruxandra R Kline Timothy L TL Audrézet Marie-Pierre MP Outeda Patricia P Nau Cherie B CB Meijer Esther E Ali Hamad H Steinman Theodore I TI Mrug Michal M Phelan Paul J PJ Watnick Terry J TJ Peters Dorien J M DJM Ong Albert C M ACM Conlon Peter J PJ Perrone Ronald D RD Cornec-Le Gall Emilie E Hogan Marie C MC Torres Vicente E VE Sayer John A JA Harris Peter C PC
American journal of human genetics 20211209 1
Autosomal dominant polycystic kidney disease (ADPKD), characterized by progressive cyst formation/expansion, results in enlarged kidneys and often end stage kidney disease. ADPKD is genetically heterogeneous; PKD1 and PKD2 are the common loci (∼78% and ∼15% of families) and GANAB, DNAJB11, and ALG9 are minor genes. PKD is a ciliary-associated disease, a ciliopathy, and many syndromic ciliopathies have a PKD phenotype. In a multi-cohort/-site collaboration, we screened ADPKD-diagnosed families th ...[more]