Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease.

@article{Watnick1998SomaticMI,
  title={Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease.},
  author={Terry J. Watnick and Vicente E. Torres and Michael Gandolph and Feng Qian and Luiz Fernando Onuchic and Katherine Wood Klinger and Gregory M Landes and Gregory G Germino},
  journal={Molecular cell},
  year={1998},
  volume={2 2},
  pages={247-51}
}
Autosomal dominant polycystic kidney disease (ADPKD), Type I is a common genetic disorder and an important cause of renal failure. The disease is characterized by progressive cyst formation in a variety of organs including the kidney, liver and pancreas. We have previously shown that in the case of PKD1, renal cyst development is likely to require somatic inactivation of the normal allele coupled to a germline PKD1 mutation. In this report, we have used unique reagents to show that intragenic… CONTINUE READING
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