Ontology highlight
ABSTRACT:
SUBMITTER: Harris PC
PROVIDER: S-EPMC4089452 | biostudies-literature | 2014 Jun
REPOSITORIES: biostudies-literature
Harris Peter C PC Torres Vicente E VE
The Journal of clinical investigation 20140602 6
Recent advances in defining the genetic mechanisms of disease causation and modification in autosomal dominant polycystic kidney disease (ADPKD) have helped to explain some extreme disease manifestations and other phenotypic variability. Studies of the ADPKD proteins, polycystin-1 and -2, and the development and characterization of animal models that better mimic the human disease, have also helped us to understand pathogenesis and facilitated treatment evaluation. In addition, an improved under ...[more]