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MeSH Review

Fanconi Syndrome

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Disease relevance of Fanconi Syndrome


High impact information on Fanconi Syndrome


Chemical compound and disease context of Fanconi Syndrome


Biological context of Fanconi Syndrome


Anatomical context of Fanconi Syndrome


Gene context of Fanconi Syndrome


Analytical, diagnostic and therapeutic context of Fanconi Syndrome


  1. Hepatocyte nuclear factor-1alpha is an essential regulator of bile acid and plasma cholesterol metabolism. Shih, D.Q., Bussen, M., Sehayek, E., Ananthanarayanan, M., Shneider, B.L., Suchy, F.J., Shefer, S., Bollileni, J.S., Gonzalez, F.J., Breslow, J.L., Stoffel, M. Nat. Genet. (2001) [Pubmed]
  2. Plasma and muscle free carnitine deficiency due to renal Fanconi syndrome. Bernardini, I., Rizzo, W.B., Dalakas, M., Bernar, J., Gahl, W.A. J. Clin. Invest. (1985) [Pubmed]
  3. Membrane permeability as a cause of transport defects in experimental Fanconi syndrome. A new hypothesis. Bergeron, M., Dubord, L., Hausser, C., Schwab, C. J. Clin. Invest. (1976) [Pubmed]
  4. Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi network. Faucherre, A., Desbois, P., Satre, V., Lunardi, J., Dorseuil, O., Gacon, G. Hum. Mol. Genet. (2003) [Pubmed]
  5. Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome. Gahl, W.A., Bernardini, I., Dalakas, M., Rizzo, W.B., Harper, G.S., Hoeg, J.M., Hurko, O., Bernar, J. J. Clin. Invest. (1988) [Pubmed]
  6. Ifosfamide-induced Fanconi syndrome. Newbury-Ecob, R.A., Noble, V.W., Barbor, P.R. Lancet (1989) [Pubmed]
  7. Proline and glucose transport by renal membranes from dogs with spontaneous idiopathic Fanconi syndrome. Medow, M.S., Reynolds, R., Bovee, K.C., Segal, S. Proc. Natl. Acad. Sci. U.S.A. (1981) [Pubmed]
  8. Silicon nephropathy. Saldanha, L.F., Rosen, V.J., Gonick, H.C. Am. J. Med. (1975) [Pubmed]
  9. Fanconi syndrome associated with didanosine therapy. Izzedine, H., Launay-Vacher, V., Deray, G. AIDS (2005) [Pubmed]
  10. Rickets in adult cystic fibrosis with myopathy, pancreatic insufficiency and proximal renal tubular dysfunction. Scott, J., Elias, E., Moult, P.J., Barnes, S., Wills, M.R. Am. J. Med. (1977) [Pubmed]
  11. Disorders of proximal nephron function. Cogan, M.G. Am. J. Med. (1982) [Pubmed]
  12. Yeast two-hybrid screens imply involvement of Fanconi anemia proteins in transcription regulation, cell signaling, oxidative metabolism, and cellular transport. Reuter, T.Y., Medhurst, A.L., Waisfisz, Q., Zhi, Y., Herterich, S., Hoehn, H., Gross, H.J., Joenje, H., Hoatlin, M.E., Mathew, C.G., Huber, P.A. Exp. Cell Res. (2003) [Pubmed]
  13. Elevation of intrarenal adenosine by maleic acid decreases GFR and renin release. Arend, L.J., Thompson, C.I., Brandt, M.A., Spielman, W.S. Kidney Int. (1986) [Pubmed]
  14. Specific effect of maleate on an apical membrane glycoprotein (gp330) in proximal tubule of rat kidneys. Bergeron, M., Mayers, P., Brown, D. Am. J. Physiol. (1996) [Pubmed]
  15. Inhibition of sodium intestinal transport and mucosal (Na+-K+)-ATPase in experimental Fanconi syndrome. Wapnir, R.A., Exeni, R.A., McVicar, M., De Rosas, R.J., Lifshitz, F. Proc. Soc. Exp. Biol. Med. (1975) [Pubmed]
  16. Role of ClC-5 in the pathogenesis of hypercalciuria: recent insights from transgenic mouse models. Yu, A.S. Curr. Opin. Nephrol. Hypertens. (2001) [Pubmed]
  17. Na+,K(+)-ATPase expression in maleic-acid-induced Fanconi syndrome in rats. Castaño, E., Marzabal, P., Casado, F.J., Felipe, A., Pastor-Anglada, M. Clin. Sci. (1997) [Pubmed]
  18. FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis. Bendavid, C., Kleta, R., Long, R., Ouspenskaia, M., Muenke, M., Haddad, B.R., Gahl, W.A. Hum. Genet. (2004) [Pubmed]
  19. Urinary megalin deficiency implicates abnormal tubular endocytic function in Fanconi syndrome. Norden, A.G., Lapsley, M., Igarashi, T., Kelleher, C.L., Lee, P.J., Matsuyama, T., Scheinman, S.J., Shiraga, H., Sundin, D.P., Thakker, R.V., Unwin, R.J., Verroust, P., Moestrup, S.K. J. Am. Soc. Nephrol. (2002) [Pubmed]
  20. How Bartter's and Gitelman's syndromes, and Dent's disease have provided important insights into the function of three renal chloride channels: ClC-Ka/b and ClC-5. Briet, M., Vargas-Poussou, R., Lourdel, S., Houillier, P., Blanchard, A. Nephron. Physiology [electronic resource]. (2006) [Pubmed]
  21. Chloride channels and endocytosis: new insights from Dent's disease and ClC-5 knockout mice. Devuyst, O., Jouret, F., Auzanneau, C., Courtoy, P.J. Nephron. Physiology [electronic resource]. (2005) [Pubmed]
  22. Progressive tubulointerstitial renal disease in infancy with associated hepatic abnormalities. Harris, H.W., Carpenter, T.O., Shanley, P., Rosen, S., Levey, R.H., Harmon, W.E. Am. J. Med. (1986) [Pubmed]
  23. Physiological basis for an animal model of the renal Fanconi syndrome: use of succinylacetone in the rat. Wyss, P.A., Boynton, S.B., Chu, J., Spencer, R.F., Roth, K.S. Clin. Sci. (1992) [Pubmed]
  24. Light-chain-induced renal tubular acidosis: effect of sodium bicarbonate on sodium-proton exchange. Reusch, H.P., Mann, J.F., Mihatch, M.J., Siffert, W., Luft, F.C. Nephrol. Dial. Transplant. (1995) [Pubmed]
  25. Occurrence of an acute Fanconi syndrome following cisplatin chemotherapy. Cachat, F., Nenadov-Beck, M., Guignard, J.P. Med. Pediatr. Oncol. (1998) [Pubmed]
  26. Maleic acid induced aminoaciduria, studied by free flow micropuncture and continuous microperfusion. Günther, R., Silbernagl, S., Deetjen, P. Pflugers Arch. (1979) [Pubmed]
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