@article{1ee09bc683964769a1b4363a2c4a2bad,
title = "Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease",
abstract = "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, somatic mutations are common in hepatic cysts. All pathogenic mutations were shown to have altered the previously normal copy of the gene. These data extend the {"}two-hit{"} model of cystogenesis to include a second focal manifestation of the disease.",
author = "Watnick, {Terry J.} and Torres, {Vicente E.} and Gandolph, {Michael A.} and Feng Qian and Onuchic, {Luiz F.} and Klinger, {Katherine W.} and Gregory Landes and Germino, {Gregory G.}",
note = "Funding Information: We are extremely grateful to all family members for their invaluable participation. We thank Ms. Sidney McGaughey and Dr. Klaus Piontek for their assistance in the preparation of the manuscript. This work was supported by grants from the National Institutes of Health (G. G. G., DK48006; V. T., DK44863; K. W. K., DK48532); the JHU Institutional Solo Cup Award (T. W.); the Polycystic Kidney Research Foundation (T. W.); and the McCutcheon Foundation (G. G. G.). G. G. G. is the Irving Blum Scholar of The Johns Hopkins University School of Medicine.",
year = "1998",
month = aug,
doi = "10.1016/S1097-2765(00)80135-5",
language = "English (US)",
volume = "2",
pages = "247--251",
journal = "Molecular Cell",
issn = "1097-2765",
publisher = "Cell Press",
number = "2",
}