Polycystic kidney disease – where gene dosage counts

descriptionPublicationkeyboard_double_arrow_right Article , Other literature type 01 Apr 2014Publisher:Faculty Opinions LtdJournal:F1000Prime Reports, volume 6 (eissn: 2051-7599,

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Authors: Eccles, Michael R.; Stayner, Cherie A.;

doi: 10.12703/p6-24

pmid: 24765529

pmc: PMC3974567

Polycystic kidney disease – where gene dosage counts

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Abstract

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.

Related Organizations

University of Otago
New Zealand

Keywords

Review Article

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