Article
Secondary, somatic mutations might promote cyst formation in patients with autosomal dominant polycystic liver disease.
Gastroenterology - 1 Dec 2011
Janssen Manoe J, Waanders Esmé, Te Morsche René H M, Xing Ruoyu, Dijkman Henry B P M, Woudenberg Jannes, Drenth Joost P H
Abstract excerpt
BACKGROUND & AIMS: Heterozygous germline mutations in PRKCSH cause autosomal dominant polycystic liver disease (PCLD), but it is not clear how they lead to cyst formation. We investigated whether mutations in cyst epithelial cells and corresponding loss of the PRKCSH gene product (hepatocystin) contributed to cyst development. METHODS: Liver cyst material was collected through laparoscopic cyst fenestration from...
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