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MeSH Review

Polycystic Kidney, Autosomal Recessive

 
 
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Disease relevance of Polycystic Kidney, Autosomal Recessive

 

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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

References

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  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]
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  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]
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