Cystic kidney diseases and planar cell polarity signaling

Robert Bacallao, H. Mcneill

Research output: Contribution to journalArticle

37 Citations (Scopus)

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
Pages (from-to)107-117
Number of pages11
JournalClinical Genetics
Volume75
Issue number2
DOIs
StatePublished - 2009

Fingerprint

Cystic Kidney Diseases
Cell Polarity
Cysts
Cilia
Research
Chronic Kidney Failure
Mutation
Genes

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Cystic kidney diseases and planar cell polarity signaling. / Bacallao, Robert; Mcneill, H.

In: Clinical Genetics, Vol. 75, No. 2, 2009, p. 107-117.

Research output: Contribution to journalArticle

Bacallao, Robert ; Mcneill, H. / Cystic kidney diseases and planar cell polarity signaling. In: Clinical Genetics. 2009 ; Vol. 75, No. 2. pp. 107-117.
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