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F1000Prime Rep. 2014 Apr 1;6:24. doi: 10.12703/P6-24. eCollection 2014.

Polycystic kidney disease - where gene dosage counts.

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Department of Pathology, Dunedin School of Medicine, University of Otago P.O. Box 913, Dunedin, 9054 New Zealand.


Gene dosage effects have emerged as playing a central role in the pathogenesis of polycystic kidney disease. Yet, how gene dosage can ultimately have an impact on the formation of kidney cysts remains unknown. In this commentary we review the evidence for the role of gene dosage effects versus the "2-hit" mutation model in polycystic kidney disease (PKD), and also discuss how gene networks may potentially make intertwined contributions to PKD.

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