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MeSH Review

Oculocerebrorenal Syndrome

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Disease relevance of Oculocerebrorenal Syndrome


High impact information on Oculocerebrorenal Syndrome


Chemical compound and disease context of Oculocerebrorenal Syndrome


Biological context of Oculocerebrorenal Syndrome


Anatomical context of Oculocerebrorenal Syndrome


Gene context of Oculocerebrorenal Syndrome


Analytical, diagnostic and therapeutic context of Oculocerebrorenal Syndrome


  1. Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice. Jänne, P.A., Suchy, S.F., Bernard, D., MacDonald, M., Crawley, J., Grinberg, A., Wynshaw-Boris, A., Westphal, H., Nussbaum, R.L. J. Clin. Invest. (1998) [Pubmed]
  2. OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling. Monnier, N., Satre, V., Lerouge, E., Berthoin, F., Lunardi, J. Hum. Mutat. (2000) [Pubmed]
  3. Phosphoinositide signaling disorders in human diseases. Pendaries, C., Tronchère, H., Plantavid, M., Payrastre, B. FEBS Lett. (2003) [Pubmed]
  4. Analysis by high-performance liquid chromatography of hyaluronic acid and chondroitin sulfates. Zebrower, M.E., Kieras, F.J., Brown, W.T. Anal. Biochem. (1986) [Pubmed]
  5. Corneal keloid in Lowe syndrome. Esquenazi, S., Eustis, H.S., Bazan, H.E., Leon, A., He, J. Journal of pediatric ophthalmology and strabismus. (2005) [Pubmed]
  6. Specificity determinants in phosphoinositide dephosphorylation: crystal structure of an archetypal inositol polyphosphate 5-phosphatase. Tsujishita, Y., Guo, S., Stolz, L.E., York, J.D., Hurley, J.H. Cell (2001) [Pubmed]
  7. A presynaptic inositol-5-phosphatase. McPherson, P.S., Garcia, E.P., Slepnev, V.I., David, C., Zhang, X., Grabs, D., Sossin, W.S., Bauerfeind, R., Nemoto, Y., De Camilli, P. Nature (1996) [Pubmed]
  8. The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization. Suchy, S.F., Nussbaum, R.L. Am. J. Hum. Genet. (2002) [Pubmed]
  9. The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase. Zhang, X., Jefferson, A.B., Auethavekiat, V., Majerus, P.W. Proc. Natl. Acad. Sci. U.S.A. (1995) [Pubmed]
  10. Linkage studies in carriers of Lowe oculo-cerebro-renal syndrome. Hittner, H.M., Carroll, A.J., Prchal, J.T. Am. J. Hum. Genet. (1982) [Pubmed]
  11. Signaling inositol polyphosphate-5-phosphatase. Characterization of activity and effect of GRB2 association. Jefferson, A.B., Auethavekiat, V., Pot, D.A., Williams, L.T., Majerus, P.W. J. Biol. Chem. (1997) [Pubmed]
  12. Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate. Zhang, X., Hartz, P.A., Philip, E., Racusen, L.C., Majerus, P.W. J. Biol. Chem. (1998) [Pubmed]
  13. Simultaneous determination of creatinine, creatine, and UV-absorbing amino acids using dual-mode gradient low-capacity cation-exchange chromatography. Yokoyama, Y., Tsuji, S., Sato, H. Journal of chromatography. A. (2005) [Pubmed]
  14. Urinary excretion of a large amount of bound sialic acid and of under sulfated chondroitin sulfate A by patients with the Lowe syndrome. Akasaki, M., Fukui, S., Sakano, T., Tanaka, T., Usui, T., Yamashina, I. Clin. Chim. Acta (1978) [Pubmed]
  15. Two families of Lowe oculocerebrorenal syndrome with elevated serum HDL cholesterol levels and CETP gene mutation. Asami, T., Inano, K., Miida, T., Kikuchi, T., Uchiyama, M. Acta Paediatr. (1997) [Pubmed]
  16. Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene. Satre, V., Monnier, N., Berthoin, F., Ayuso, C., Joannard, A., Jouk, P.S., Lopez-Pajares, I., Megabarne, A., Philippe, H.J., Plauchu, H., Torres, M.L., Lunardi, J. Am. J. Hum. Genet. (1999) [Pubmed]
  17. Lowe syndrome protein Ocrl1 is translocated to membrane ruffles upon Rac GTPase activation: a new perspective on Lowe syndrome pathophysiology. Faucherre, A., Desbois, P., Nagano, F., Satre, V., Lunardi, J., Gacon, G., Dorseuil, O. Hum. Mol. Genet. (2005) [Pubmed]
  18. Physical mapping and genomic structure of the Lowe syndrome gene OCRL1. Nussbaum, R.L., Orrison, B.M., Jänne, P.A., Charnas, L., Chinault, A.C. Hum. Genet. (1997) [Pubmed]
  19. 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]
  20. Lowe syndrome, a deficiency of phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus. Suchy, S.F., Olivos-Glander, I.M., Nussabaum, R.L. Hum. Mol. Genet. (1995) [Pubmed]
  21. Molecular confirmation of carriers for Lowe syndrome. Lin, T., Lewis, R.A., Nussbaum, R.L. Ophthalmology (1999) [Pubmed]
  22. Glaucoma with the oculocerebrorenal syndrome of Lowe. Walton, D.S., Katsavounidou, G., Lowe, C.U. Journal of glaucoma. (2005) [Pubmed]
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