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Chemical Compound Review

C02799     (3S)-10,13-dimethyl-17-(6- methyl-5...

Synonyms:
 
 
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Disease relevance of C02799

 

High impact information on C02799

 

Chemical compound and disease context of C02799

 

Biological context of C02799

 

Anatomical context of C02799

 

Gene context of C02799

References

  1. Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness. Kovarova, M., Wassif, C.A., Odom, S., Liao, K., Porter, F.D., Rivera, J. J. Exp. Med. (2006) [Pubmed]
  2. Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene. Waterham, H.R., Koster, J., Mooyer, P., Noort Gv, G., Kelley, R.I., Wilcox, W.R., Wanders, R.J., Hennekam, R.C., Oosterwijk, J.C. Am. J. Hum. Genet. (2003) [Pubmed]
  3. DHCR24 gene expression is upregulated in melanoma metastases and associated to resistance to oxidative stress-induced apoptosis. Di Stasi, D., Vallacchi, V., Campi, V., Ranzani, T., Daniotti, M., Chiodini, E., Fiorentini, S., Greeve, I., Prinetti, A., Rivoltini, L., Pierotti, M.A., Rodolfo, M. Int. J. Cancer (2005) [Pubmed]
  4. Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy. Correa-Cerro, L.S., Wassif, C.A., Kratz, L., Miller, G.F., Munasinghe, J.P., Grinberg, A., Fliesler, S.J., Porter, F.D. Hum. Mol. Genet. (2006) [Pubmed]
  5. Regulation of rat hepatic 3beta-hydroxysterol delta7-reductase: substrate specificity, competitive and non-competitive inhibition, and phosphorylation/dephosphorylation. Shefer, S., Salen, G., Honda, A., Batta, A.K., Nguyen, L.B., Tint, G.S., Ioannou, Y.A., Desnick, R. J. Lipid Res. (1998) [Pubmed]
  6. Up-regulation of low-density lipoprotein receptor in human hepatocytes is induced by sequestration of free cholesterol in the endosomal/lysosomal compartment. Issandou, M., Guillard, R., Boullay, A.B., Linhart, V., Lopez-Perez, E. Biochem. Pharmacol. (2004) [Pubmed]
  7. Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H Steroid Dehydrogenase-like (NSDHL) Enzyme. Caldas, H., Cunningham, D., Wang, X., Jiang, F., Humphries, L., Kelley, R.I., Herman, G.E. Mol. Genet. Metab. (2005) [Pubmed]
  8. A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome. Romano, F., Fiore, B., Pezzino, F.M., Longombardo, M.T., Cefalù, A.B., Noto, D., Puglisi, A., Brogna, A., Mattina, T., Averna, M., Travali, S. Mol. Diagn. (2005) [Pubmed]
  9. RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis. Porter, F.D. Mol. Genet. Metab. (2000) [Pubmed]
  10. Sterol dependent regulation of human TM7SF2 gene expression: role of the encoded 3beta-hydroxysterol Delta14-reductase in human cholesterol biosynthesis. Bennati, A.M., Castelli, M., Della Fazia, M.A., Beccari, T., Caruso, D., Servillo, G., Roberti, R. Biochim. Biophys. Acta (2006) [Pubmed]
  11. 5alpha-Cholesta-7,24-dien-3beta-ol as a major sterol of the male hamster reproductive tract. Legault, Y., VandenHeuvel, W.J., Arison, B.H., Bleau, G., Chapdelaine, A., Roberts, K.D. Steroids (1978) [Pubmed]
  12. Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast. Lucas, M.E., Ma, Q., Cunningham, D., Peters, J., Cattanach, B., Bard, M., Elmore, B.K., Herman, G.E. Mol. Genet. Metab. (2003) [Pubmed]
  13. Partial rescue of neonatal lethality of Dhcr7 null mice by a nestin promoter-driven DHCR7 transgene expression. Yu, H., Wessels, A., Tint, G.S., Patel, S.B. Brain Res. Dev. Brain Res. (2005) [Pubmed]
 
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