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  • Title: Cystic kidney diseases and planar cell polarity signaling.
    Author: Bacallao RL, McNeill H.
    Journal: Clin Genet; 2009 Feb; 75(2):107-17. PubMed ID: 19215242.
    Abstract:
    Renal cystic diseases are a major clinical concern as they are the most common genetic cause of end-stage renal disease. While many of the genes causing cystic disease have been identified in recent years, knowing the molecular nature of the mutations has not clarified the mechanisms underlying cyst formation. Recent research in model organisms has suggested that cyst formation may be because of defective planar cell polarity (PCP) and/or ciliary defects. In this review, we first outline the clinical features of renal cystic diseases and then discuss current research linking our understanding of cystic kidney disease to PCP and cilia.
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