Advances in Chronic Kidney Disease
Volume 17, Issue 2 , Pages 115-117 , March 2010

Autosomal Dominant Polycystic Kidney Disease

References 

  1. Reeders ST, Breuning MH, Davies KE, et al. A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature. 1985;317:542–544
  2. The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium. Cell. 1994;77:881–894
  3. Mochizuki T, Wu G, Hayashi T, et al. PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science. 1996;272:1339–1342
  4. Ong AC, Harris PC. Molecular pathogenesis of ADPKD: Te polycystin complex gets complex. Kidney Int. 2005;67:1234–1247
  5. Pei Y. A “two-hit” model of cystogenesis in autosomal dominant polycystic kidney disease?. Trends Mol Med. 2001;7:151–156
  6. Barr MM, Sternberg PW. A polycystic kidney-disease gene homologue required for male mating behaviour in C. elegans. Nature. 1999;401:386–389
  7. Watnick TJ, Jin Y, Matunis E, et al. A flagellar polycystin-2 homolog required for male fertility in Drosophila. Curr Biol. 2003;13:2179–2184
  8. Berbari NF, O'Connor AK, Haycraft CJ, et al. The primary cilium as a complex signaling center. Curr Biol. 2009;19:R526–R535
  9. Torres VE, Wang X, Qian Q, et al. Effective treatment of an orthologous model of autosomal dominant polycystic kidney disease. Nat Med. 2004;10:363–364
  10. Shillingford JM, Murcia NS, Larson CH, et al. The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease. Proc Natl Acad Sci U S A. 2006;103:5466–5471
  11. Harris PC, Torres VE. Polycystic kidney disease. Annu Rev Med. 2009;60:321–337
  12. Barua M, Cil O, Paterson AD, et al. Family history of renal disease severity predicts the mutated gene in ADPKD. J Am Soc Nephrol. 2009;20:1833–1838
  13. Pei Y, Obaji J, Dupuis A, et al. Unified criteria for ultrasonographic diagnosis of ADPKD. J Am Soc Nephrol. 2009;20:205–212
  14. Phakdeekitcharoen B, Watnick TJ, Germino GG. Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples. J Am Soc Nephrol. 2001;12:955–963
  15. Rossetti S, Consugar MB, Chapman AB, et al. Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2007;18:2143–2160
  16. Grantham JJ, Torres VE, Chapman AB, et al. Volume progression in polycystic kidney disease. N Engl J Med. 2006;354:2122–2130

PII: S1548-5595(09)00227-4

doi: 10.1053/j.ackd.2009.12.002

Advances in Chronic Kidney Disease
Volume 17, Issue 2 , Pages 115-117 , March 2010

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