Cystic kidney diseases and planar cell polarity signaling

R. L. Bacallao, H. Mcneill

Research output: Contribution to journalReview article

38 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)107-117
Number of pages11
JournalClinical Genetics
Volume75
Issue number2
DOIs
StatePublished - Feb 2 2009

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Keywords

  • Development kidney
  • Nephronophthisis
  • Planar polarity
  • Polycystic kidney disease
  • Spindle orientation

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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