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MeSH Review

Polycystic Kidney, Autosomal Recessive

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Disease relevance of Polycystic Kidney, Autosomal Recessive


High impact information on Polycystic Kidney, Autosomal Recessive


Chemical compound and disease context of Polycystic Kidney, Autosomal Recessive

  • The aims of this study of murine autosomal-recessive polycystic kidney disease (ARPKD) were (1) to characterize amphiregulin and heparin-binding EGF expression in cystic versus normal kidneys and cells; and (2) to identify the functional effects of abnormal EGF-related growth factor expression [11].
  • The results of these studies suggest that epithelial sodium channel-mediated sodium absorption is decreased in principal cells of ARPKD CD cysts and that the reduction in sodium absorption may contribute to the accumulation of luminal fluid [12].
  • Autosomal recessive polycystic kidney disease (ARPKD) is characterized by the progressive dilatation of collecting ducts, the nephron segments responsible for the final renal regulation of sodium, potassium, acid-base, and water balance [13].
  • Similarities in cyst formation and striking differences in cilia expression associated with these ARPKD mouse models indicates that cyst formation and cilia expression are independent phenotypic features regulated by polaris [14].

Biological context of Polycystic Kidney, Autosomal Recessive


Anatomical context of Polycystic Kidney, Autosomal Recessive


Gene context of Polycystic Kidney, Autosomal Recessive


Analytical, diagnostic and therapeutic context of Polycystic Kidney, Autosomal Recessive


  1. Proximal tubular cysts in fetal human autosomal recessive polycystic kidney disease. Nakanishi, K., Sweeney, W.E., Zerres, K., Guay-Woodford, L.M., Avner, E.D. J. Am. Soc. Nephrol. (2000) [Pubmed]
  2. Treatment of polycystic kidney disease with a novel tyrosine kinase inhibitor. Sweeney, W.E., Chen, Y., Nakanishi, K., Frost, P., Avner, E.D. Kidney Int. (2000) [Pubmed]
  3. A 1-Mb BAC/PAC-based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6. Park, J.H., Dixit, M.P., Onuchic, L.F., Wu, G., Goncharuk, A.N., Kneitz, S., Santarina, L.B., Hayashi, T., Avner, E.D., Guay-Woodford, L., Zerres, K., Germino, G.G., Somlo, S. Genomics (1999) [Pubmed]
  4. Identification of PKD2L, a human PKD2-related gene: tissue-specific expression and mapping to chromosome 10q25. Wu, G., Hayashi, T., Park, J.H., Dixit, M., Reynolds, D.M., Li, L., Maeda, Y., Cai, Y., Coca-Prados, M., Somlo, S. Genomics (1998) [Pubmed]
  5. Expression of components of the renin-angiotensin system in autosomal recessive polycystic kidney disease. Loghman-Adham, M., Soto, C.E., Inagami, T., Sotelo-Avila, C. J. Histochem. Cytochem. (2005) [Pubmed]
  6. Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. Zerres, K., Mücher, G., Bachner, L., Deschennes, G., Eggermann, T., Kääriäinen, H., Knapp, M., Lennert, T., Misselwitz, J., von Mühlendahl, K.E. Nat. Genet. (1994) [Pubmed]
  7. Defects in cholangiocyte fibrocystin expression and ciliary structure in the PCK rat. Masyuk, T.V., Huang, B.Q., Ward, C.J., Masyuk, A.I., Yuan, D., Splinter, P.L., Punyashthiti, R., Ritman, E.L., Torres, V.E., Harris, P.C., LaRusso, N.F. Gastroenterology (2003) [Pubmed]
  8. 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]
  9. Inversin forms a complex with catenins and N-cadherin in polarized epithelial cells. Nürnberger, J., Bacallao, R.L., Phillips, C.L. Mol. Biol. Cell (2002) [Pubmed]
  10. Kinesin family member 12 is a candidate polycystic kidney disease modifier in the cpk mouse. Mrug, M., Li, R., Cui, X., Schoeb, T.R., Churchill, G.A., Guay-Woodford, L.M. J. Am. Soc. Nephrol. (2005) [Pubmed]
  11. 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]
  12. Decreased amiloride-sensitive Na+ absorption in collecting duct principal cells isolated from BPK ARPKD mice. Veizis, E.I., Carlin, C.R., Cotton, C.U. Am. J. Physiol. Renal Physiol. (2004) [Pubmed]
  13. Mechanoregulation of intracellular Ca2+ concentration is attenuated in collecting duct of monocilium-impaired orpk mice. Liu, W., Murcia, N.S., Duan, Y., Weinbaum, S., Yoder, B.K., Schwiebert, E., Satlin, L.M. Am. J. Physiol. Renal Physiol. (2005) [Pubmed]
  14. Delayed cystogenesis and increased ciliogenesis associated with the re-expression of polaris in Tg737 mutant mice. Brown, N.E., Murcia, N.S. Kidney Int. (2003) [Pubmed]
  15. Insertional mutagenesis and molecular analysis of a new gene associated with polycystic kidney disease. Yoder, B.K., Richards, W.G., Sweeney, W.E., Wilkinson, J.E., Avener, E.D., Woychik, R.P. Proc. Assoc. Am. Physicians (1995) [Pubmed]
  16. Phenotypic analysis of conditionally immortalized cells isolated from the BPK model of ARPKD. Sweeney, W.E., Kusner, L., Carlin, C.R., Chang, S., Futey, L., Cotton, C.U., Dell, K.M., Avner, E.D. Am. J. Physiol., Cell Physiol. (2001) [Pubmed]
  17. Sonographic, clinical and genetic aspects of prenatal diagnosis of cystic kidney disease. Reuss, A., Wladimiroff, J.W., Niermeyer, M.F. Ultrasound in medicine & biology. (1991) [Pubmed]
  18. Prenatal sonographic diagnosis of autosomal recessive polycystic kidney disease (ARPKD) during the early second trimester. Wisser, J., Hebisch, G., Froster, U., Zerres, K., Stallmach, T., Leumann, E., Schinzel, A., Huch, A. Prenat. Diagn. (1995) [Pubmed]
  19. PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells. Zhang, M.Z., Mai, W., Li, C., Cho, S.Y., Hao, C., Moeckel, G., Zhao, R., Kim, I., Wang, J., Xiong, H., Wang, H., Sato, Y., Wu, Y., Nakanuma, Y., Lilova, M., Pei, Y., Harris, R.C., Li, S., Coffey, R.J., Sun, L., Wu, D., Chen, X.Z., Breyer, M.D., Zhao, Z.J., McKanna, J.A., Wu, G. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  20. Sodium pump distribution is not reversed in the DBA/2FG-pcy, polycystic kidney disease model mouse. Kawa, G., Nagao, S., Yamamoto, A., Omori, K., Komatz, Y., Takahashi, H., Tashiro, Y. J. Am. Soc. Nephrol. (1994) [Pubmed]
  21. Sonographic identification of autosomal recessive polycystic kidney disease associated with increased maternal serum/amniotic fluid alpha-fetoprotein. Townsend, R.R., Goldstein, R.B., Filly, R.A., Callen, P.W., Anderson, R.L., Golbus, M. Obstetrics and gynecology. (1988) [Pubmed]
  22. Role of CFTR in autosomal recessive polycystic kidney disease. Nakanishi, K., Sweeney, W.E., Macrae Dell, K., Cotton, C.U., Avner, E.D. J. Am. Soc. Nephrol. (2001) [Pubmed]
  23. The Invs gene encodes a microtubule-associated protein. Nürnberger, J., Kribben, A., Opazo Saez, A., Heusch, G., Philipp, T., Phillips, C.L. J. Am. Soc. Nephrol. (2004) [Pubmed]
  24. Genomic structure of the gene for the human P1 protein (MCM3) and its exclusion as a candidate for autosomal recessive polycystic kidney disease. Hofmann, Y., Becker, J., Wright, F., Avner, E.D., Mrug, M., Guay-Woodford, L.M., Somlo, S., Zerres, K., Germino, G.G., Onuchic, L.F. Eur. J. Hum. Genet. (2000) [Pubmed]
  25. New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene. Zerres, K., Senderek, J., Rudnik-Schöneborn, S., Eggermann, T., Kunze, J., Mononen, T., Kääriäinen, H., Kirfel, J., Moser, M., Buettner, R., Bergmann, C. Clin. Genet. (2004) [Pubmed]
  26. Sequence analysis of the human hTg737 gene and its polymorphic sites in patients with autosomal recessive polycystic kidney disease. Onuchic, L.F., Schrick, J.J., Ma, J., Hudson, T., Guay-Woodford, L.M., Zerres, K., Woychik, R.P., Reeders, S.T. Mamm. Genome (1995) [Pubmed]
  27. High-resolution renal sonography in children with autosomal recessive polycystic kidney disease. Traubici, J., Daneman, A. AJR. American journal of roentgenology. (2005) [Pubmed]
  28. Magnetic resonance imaging of autosomal recessive polycystic kidney disease in utero. Nishi, T. Journal of obstetrics and gynaecology (Tokyo, Japan) (1995) [Pubmed]
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