Expert Reviews in Molecular Medicine: http://www.expertreviews.org/
Accession information: Vol. 8; Issue 2; 17 January 2006 Abstract
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The two-hit hypothesis of renal cyst formation

Bradley K. Yoder, Sharon Mulroy, Hannah Eustace, Catherine Boucher and Richard Sandford

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Figure 2. The two-hit hypothesis of renal cyst formation. (a) In noncystic renal tubular epithelial cells, a single germline mutation in either PKD1 or PKD2 is present and the epithelium appears normal. (b) In cystic epithelial cells, a somatic mutation, or ‘second hit’ has occurred in the other PKD gene allele, resulting in the complete loss of normal PKD gene function and the development of cystic epithelium. Abbreviation: PKD, polycystic kidney disease gene.

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