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MeSH Review

Kidney Diseases, Cystic

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Disease relevance of Kidney Diseases, Cystic


High impact information on Kidney Diseases, Cystic


Chemical compound and disease context of Kidney Diseases, Cystic


Biological context of Kidney Diseases, Cystic


Anatomical context of Kidney Diseases, Cystic


Gene context of Kidney Diseases, Cystic

  • The data suggest a modifier role for the 'trans' polycystin gene in cystic kidney disease, and support a contribution from threshold effects to cyst formation and growth [26].
  • In PKD2 cystic kidney and liver, we find polycystin-2 expression in the majority of cysts, although a significant minority are negative, a pattern mirrored by the PKD1 protein [27].
  • BACKGROUND: Autosomal-dominant medullary cystic kidney disease type 2 (MCKD2) is a tubulointerstitial nephropathy that causes renal salt wasting, hyperuricemia, gout, and end-stage renal failure in the fifth decade of life [28].
  • Sustained activation of MAPK/ERKs signaling pathway in cystic kidneys from bcl-2 -/- mice [29].
  • Strong TGF alpha and EGF receptor staining was also found in the mixture of advanced cysts in the end-stage cystic kidneys although the cysts are likely to be derived from different segment of the renal tubules [30].

Analytical, diagnostic and therapeutic context of Kidney Diseases, Cystic


  1. Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Otto, E.A., Schermer, B., Obara, T., O'Toole, J.F., Hiller, K.S., Mueller, A.M., Ruf, R.G., Hoefele, J., Beekmann, F., Landau, D., Foreman, J.W., Goodship, J.A., Strachan, T., Kispert, A., Wolf, M.T., Gagnadoux, M.F., Nivet, H., Antignac, C., Walz, G., Drummond, I.A., Benzing, T., Hildebrandt, F. Nat. Genet. (2003) [Pubmed]
  2. Androgen receptor pathway in rats with autosomal dominant polycystic kidney disease. Nagao, S., Kusaka, M., Nishii, K., Marunouchi, T., Kurahashi, H., Takahashi, H., Grantham, J. J. Am. Soc. Nephrol. (2005) [Pubmed]
  3. Polycystic disease of kidney, liver and pancreas; a possible patholgenesis. Mcgeoch, J.E., Darmady, E.M. J. Pathol. (1976) [Pubmed]
  4. Autosomal dominant primary hyperparathyroidism and jaw tumor syndrome associated with renal hamartomas and cystic kidney disease: linkage to 1q21-q32 and loss of the wild type allele in renal hamartomas. Teh, B.T., Farnebo, F., Kristoffersson, U., Sundelin, B., Cardinal, J., Axelson, R., Yap, A., Epstein, M., Heath, H., Cameron, D., Larsson, C. J. Clin. Endocrinol. Metab. (1996) [Pubmed]
  5. Azotemia and extrarenal manifestations in old female Han:SPRD (cy/+) rats. Kränzlin, B., Schieren, G., Gretz, N. Kidney Int. (1997) [Pubmed]
  6. MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. Kyttälä, M., Tallila, J., Salonen, R., Kopra, O., Kohlschmidt, N., Paavola-Sakki, P., Peltonen, L., Kestilä, M. Nat. Genet. (2006) [Pubmed]
  7. Polycystin-1 and polycystin-2 regulate the cell cycle through the helix-loop-helix inhibitor Id2. Li, X., Luo, Y., Starremans, P.G., McNamara, C.A., Pei, Y., Zhou, J. Nat. Cell Biol. (2005) [Pubmed]
  8. A transcriptional network in polycystic kidney disease. Gresh, L., Fischer, E., Reimann, A., Tanguy, M., Garbay, S., Shao, X., Hiesberger, T., Fiette, L., Igarashi, P., Yaniv, M., Pontoglio, M. EMBO J. (2004) [Pubmed]
  9. Decreased de novo synthesis of proteoglycans in drug-induced renal cystic disease. Lelongt, B., Carone, F.A., Kanwar, Y.S. Proc. Natl. Acad. Sci. U.S.A. (1988) [Pubmed]
  10. Elevated c-myc protooncogene expression in autosomal recessive polycystic kidney disease. Cowley, B.D., Smardo, F.L., Grantham, J.J., Calvet, J.P. Proc. Natl. Acad. Sci. U.S.A. (1987) [Pubmed]
  11. Citrate therapy for polycystic kidney disease in rats. Tanner, G.A., Tanner, J.A. Kidney Int. (2000) [Pubmed]
  12. Abnormalities of glycosphingolipid, sulfatide, and ceramide in the polycystic (cpk/cpk) mouse. Deshmukh, G.D., Radin, N.S., Gattone, V.H., Shayman, J.A. J. Lipid Res. (1994) [Pubmed]
  13. EGF-related growth factors in the pathogenesis of murine ARPKD. MacRae Dell, K., Nemo, R., Sweeney, W.E., Avner, E.D. Kidney Int. (2004) [Pubmed]
  14. Polaris, a protein disrupted in orpk mutant mice, is required for assembly of renal cilium. Yoder, B.K., Tousson, A., Millican, L., Wu, J.H., Bugg, C.E., Schafer, J.A., Balkovetz, D.F. Am. J. Physiol. Renal Physiol. (2002) [Pubmed]
  15. C-fos expression is hypersensitive to serum-stimulation in cultured cystic kidney cells from the C57BL/6J-cpk mouse. Rankin, C.A., Grantham, J.J., Calvet, J.P. J. Cell. Physiol. (1992) [Pubmed]
  16. A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p. Antignac, C., Arduy, C.H., Beckmann, J.S., Benessy, F., Gros, F., Medhioub, M., Hildebrandt, F., Dufier, J.L., Kleinknecht, C., Broyer, M. Nat. Genet. (1993) [Pubmed]
  17. Oxidant stress and reduced antioxidant enzyme protection in polycystic kidney disease. Maser, R.L., Vassmer, D., Magenheimer, B.S., Calvet, J.P. J. Am. Soc. Nephrol. (2002) [Pubmed]
  18. Reduced Pax2 gene dosage increases apoptosis and slows the progression of renal cystic disease. Ostrom, L., Tang, M.J., Gruss, P., Dressler, G.R. Dev. Biol. (2000) [Pubmed]
  19. Molecular genetic diagnosis of autosomal dominant polycystic kidney disease in a newborn with bilateral cystic kidneys detected prenatally and multiple skeletal malformations. Turco, A.E., Padovani, E.M., Chiaffoni, G.P., Peissel, B., Rossetti, S., Marcolongo, A., Gammaro, L., Maschio, G., Pignatti, P.F. J. Med. Genet. (1993) [Pubmed]
  20. Epidermal growth factor ameliorates autosomal recessive polycystic kidney disease in mice. Gattone, V.H., Lowden, D.A., Cowley, B.D. Dev. Biol. (1995) [Pubmed]
  21. Dysfunctional cilia lead to altered ependyma and choroid plexus function, and result in the formation of hydrocephalus. Banizs, B., Pike, M.M., Millican, C.L., Ferguson, W.B., Komlosi, P., Sheetz, J., Bell, P.D., Schwiebert, E.M., Yoder, B.K. Development (2005) [Pubmed]
  22. The polycystic kidney disease 1 gene product modulates Wnt signaling. Kim, E., Arnould, T., Sellin, L.K., Benzing, T., Fan, M.J., Grüning, W., Sokol, S.Y., Drummond, I., Walz, G. J. Biol. Chem. (1999) [Pubmed]
  23. Chymase-like angiotensin II-generating activity in end-stage human autosomal dominant polycystic kidney disease. McPherson, E.A., Luo, Z., Brown, R.A., LeBard, L.S., Corless, C.C., Speth, R.C., Bagby, S.P. J. Am. Soc. Nephrol. (2004) [Pubmed]
  24. Polycystin: new aspects of structure, function, and regulation. Wilson, P.D. J. Am. Soc. Nephrol. (2001) [Pubmed]
  25. Molecular cloning of a gene for inversion of embryo turning (inv) with cystic kidney. Mochizuki, T., Tsuchiya, K., Yokoyama, T. Nephrol. Dial. Transplant. (2002) [Pubmed]
  26. Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney disease. Wu, G., Tian, X., Nishimura, S., Markowitz, G.S., D'Agati, V., Park, J.H., Yao, L., Li, L., Geng, L., Zhao, H., Edelmann, W., Somlo, S. Hum. Mol. Genet. (2002) [Pubmed]
  27. Coordinate expression of the autosomal dominant polycystic kidney disease proteins, polycystin-2 and polycystin-1, in normal and cystic tissue. Ong, A.C., Ward, C.J., Butler, R.J., Biddolph, S., Bowker, C., Torra, R., Pei, Y., Harris, P.C. Am. J. Pathol. (1999) [Pubmed]
  28. Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains. Wolf, M.T., Mucha, B.E., Attanasio, M., Zalewski, I., Karle, S.M., Neumann, H.P., Rahman, N., Bader, B., Baldamus, C.A., Otto, E., Witzgall, R., Fuchshuber, A., Hildebrandt, F. Kidney Int. (2003) [Pubmed]
  29. Sustained activation of MAPK/ERKs signaling pathway in cystic kidneys from bcl-2 -/- mice. Sorenson, C.M., Sheibani, N. Am. J. Physiol. Renal Physiol. (2002) [Pubmed]
  30. Expression of transforming growth factor alpha and epidermal growth factor receptor in adult polycystic kidney disease. Lee, D.C., Chan, K.W., Chan, S.Y. J. Urol. (1998) [Pubmed]
  31. Gender and the effect of gonadal hormones on the progression of inherited polycystic kidney disease in rats. Cowley, B.D., Rupp, J.C., Muessel, M.J., Gattone, V.H. Am. J. Kidney Dis. (1997) [Pubmed]
  32. Comparison of human polycystic and medullary cystic kidney disease with diphenylamine-induced cystic disease. Evan, A.P., Gardner, K.D. Lab. Invest. (1976) [Pubmed]
  33. Prenatal diagnosis of multiple acyl-CoA dehydrogenase deficiency: association with elevated alpha-fetoprotein and cystic renal changes. Chisholm, C.A., Vavelidis, F., Lovell, M.A., Sweetman, L., Roe, C.R., Roe, D.S., Frerman, F.E., Wilson, W.G. Prenat. Diagn. (2001) [Pubmed]
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