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MeSH Review

Crigler-Najjar Syndrome

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Disease relevance of Crigler-Najjar Syndrome


High impact information on Crigler-Najjar Syndrome


Chemical compound and disease context of Crigler-Najjar Syndrome


Biological context of Crigler-Najjar Syndrome


Anatomical context of Crigler-Najjar Syndrome


Gene context of Crigler-Najjar Syndrome


Analytical, diagnostic and therapeutic context of Crigler-Najjar Syndrome


  1. Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient. Ritter, J.K., Yeatman, M.T., Ferreira, P., Owens, I.S. J. Clin. Invest. (1992) [Pubmed]
  2. Orthotopic liver transplantation for type I Crigler-Najjar syndrome. Kaufman, S.S., Wood, R.P., Shaw, B.W., Markin, R.S., Rosenthal, P., Gridelli, B., Vanderhoof, J.A. Hepatology (1986) [Pubmed]
  3. Deficiency in bilirubin UDP-glucuronyl transferase as a genetic determinant of acetaminophen toxicity. de Morais, S.M., Wells, P.G. J. Pharmacol. Exp. Ther. (1988) [Pubmed]
  4. The effect of zinc salts on serum bilirubin levels in hyperbilirubinemic rats. Vítek, L., Muchová, L., Zelenka, J., Zadinová, M., Malina, J. J. Pediatr. Gastroenterol. Nutr. (2005) [Pubmed]
  5. Strong, long-term transgene expression in rat liver using chicken beta-actin promoter associated with cytomegalovirus immediate-early enhancer (CAG promoter). Kosuga, M., Enosawa, S., Li, X.K., Suzuki, S., Matsuo, N., Yamada, M., Roy-Chowdhury, J., Koiwai, O., Okuyama, T. Cell transplantation. (2000) [Pubmed]
  6. Sn-protoporphyrin blocks the increase in serum bilirubin levels that develops postnatally in homozygous Gunn rats. Sisson, T.R., Drummond, G.S., Samonte, D., Calabio, R., Kappas, A. J. Exp. Med. (1988) [Pubmed]
  7. A mutation in bilirubin uridine 5'-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II. Bosma, P.J., Goldhoorn, B., Oude Elferink, R.P., Sinaasappel, M., Oostra, B.A., Jansen, P.L. Gastroenterology (1993) [Pubmed]
  8. Bilirubin secretion and conjujation in the Crigler-Najjar syndrome type II. Gordon, E.R., Shaffer, E.A., Sass-Kortsak, A. Gastroenterology (1976) [Pubmed]
  9. Correction of the UDP-glucuronosyltransferase gene defect in the gunn rat model of crigler-najjar syndrome type I with a chimeric oligonucleotide. Kren, B.T., Parashar, B., Bandyopadhyay, P., Chowdhury, N.R., Chowdhury, J.R., Steer, C.J. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  10. Crigler-Najjar syndrome type II is inherited both as a dominant and as a recessive trait. Koiwai, O., Aono, S., Adachi, Y., Kamisako, T., Yasui, Y., Nishizawa, M., Sato, H. Hum. Mol. Genet. (1996) [Pubmed]
  11. Bilirubin-induced apoptosis in cultured rat neural cells is aggravated by chenodeoxycholic acid but prevented by ursodeoxycholic acid. Silva, R.F., Rodrigues, C.M., Brites, D. J. Hepatol. (2001) [Pubmed]
  12. A new type of defect in the gene for bilirubin uridine 5'-diphosphate-glucuronosyltransferase in a patient with Crigler-Najjar syndrome type I. Aono, S., Yamada, Y., Keino, H., Sasaoka, Y., Nakagawa, T., Onishi, S., Mimura, S., Koiwai, O., Sato, H. Pediatr. Res. (1994) [Pubmed]
  13. Acute hepatitis in Crigler-Najjar syndrome. Sherker, A.H., Heathcote, J. Am. J. Gastroenterol. (1987) [Pubmed]
  14. Successful photo-and phenobarbital therapy during pregnancy in a woman with Crigler-Najjar syndrome type II. Holstein, A., Plaschke, A., Lohse, P., Egberts, E.H. Scand. J. Gastroenterol. (2005) [Pubmed]
  15. Type 2 Crigler-Najjar syndrome. Quantitation of ultrastructural data and evolution under therapy with phenytoin. Koch, M.M., Lorenzini, I., Freddara, U., Jezequel, A.M., Orlandi, F. Gastroenterol. Clin. Biol. (1978) [Pubmed]
  16. A case of anorexia nervosa with hyperbilirubinaemia in a patient homozygous for a mutation in the bilirubin UDP-glucuronosyltransferase gene. Maruo, Y., Wada, S., Yamamoto, K., Sato, H., Yamano, T., Shimada, M. Eur. J. Pediatr. (1999) [Pubmed]
  17. Genetic polymorphisms of bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese patients with Crigler-Najjar syndrome or Gilbert's syndrome as well as in healthy Japanese subjects. Takeuchi, K., Kobayashi, Y., Tamaki, S., Ishihara, T., Maruo, Y., Araki, J., Mifuji, R., Itani, T., Kuroda, M., Sato, H., Kaito, M., Adachi, Y. J. Gastroenterol. Hepatol. (2004) [Pubmed]
  18. Phenobarbital following phototherapy for Crigler-Najjar syndrome type II with good fetal outcome: a case report. Ito, T., Katagiri, C., Ikeno, S., Takahashi, H., Nagata, N., Terakawa, N. J. Obstet. Gynaecol. Res. (2001) [Pubmed]
  19. Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II. Yamamoto, K., Sato, H., Fujiyama, Y., Doida, Y., Bamba, T. Biochim. Biophys. Acta (1998) [Pubmed]
  20. A novel strategy for in vivo expansion of transplanted hepatocytes using preparative hepatic irradiation and FasL-induced hepatocellular apoptosis. Takahashi, M., Deb, N.J., Kawashita, Y., Lee, S.W., Furgueil, J., Okuyama, T., Roy-Chowdhury, N., Vikram, B., Roy-Chowdhury, J., Guha, C. Gene Ther. (2003) [Pubmed]
  21. Application of a rapid and efficient h.p.l.c. method to measure bilirubin and its conjugates from native bile and in model bile systems. Potential use as a tool for kinetic reactions and as an aid in diagnosis of hepatobiliary disease. Spivak, W., Yuey, W. Biochem. J. (1986) [Pubmed]
  22. Glucuronidation of 3'-azido-3'-deoxythymidine in human liver microsomes: enzyme inhibition by drugs and steroid hormones. Herber, R., Magdalou, J., Haumont, M., Bidault, R., van Es, H., Siest, G. Biochim. Biophys. Acta (1992) [Pubmed]
  23. Homodimerization of human bilirubin-uridine-diphosphoglucuronate glucuronosyltransferase-1 (UGT1A1) and its functional implications. Ghosh, S.S., Sappal, B.S., Kalpana, G.V., Lee, S.W., Chowdhury, J.R., Chowdhury, N.R. J. Biol. Chem. (2001) [Pubmed]
  24. Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation. Servedio, V., d'Apolito, M., Maiorano, N., Minuti, B., Torricelli, F., Ronchi, F., Zancan, L., Perrotta, S., Vajro, P., Boschetto, L., Iolascon, A. Hum. Mutat. (2005) [Pubmed]
  25. Role of cysteine residues in the function of human UDP glucuronosyltransferase isoform 1A1 (UGT1A1). Ghosh, S.S., Lu, Y., Lee, S.W., Wang, X., Guha, C., Roy-Chowdhury, J., Roy-Chowdhury, N. Biochem. J. (2005) [Pubmed]
  26. A novel compound heterozygous variation of the uridine-diphosphoglucuronosyl transferase 1A1 gene that causes Crigler-Najjar syndrome type II. Huang, C.S., Luo, G.A., Huang, M.J., Chen, E.S., Young, T.H., Chao, Y.C. Pharmacogenetics (2001) [Pubmed]
  27. Isolated hepatocyte transplantation in an infant with a severe urea cycle disorder. Horslen, S.P., McCowan, T.C., Goertzen, T.C., Warkentin, P.I., Cai, H.B., Strom, S.C., Fox, I.J. Pediatrics (2003) [Pubmed]
  28. Prenatal diagnosis of bilirubin-UDP-glucuronosyltransferase deficiency in rats by genomic DNA analysis. Huang, T.J., Chowdhury, J.R., Lahiri, P., Yerneni, P.C., Bommineni, V.R., Arias, I.M., Chowdhury, N.R. Hepatology (1992) [Pubmed]
  29. Removal of protein-bound and unbound unconjugated bilirubin by perfusion of plasma through an anion-exchange resin in a case of Crigler-Najjar syndrome type I. Ihara, H., Shino, Y., Hashizume, N., Shimizu, N., Aoki, T., Yoshida, M. Ann. Clin. Biochem. (2003) [Pubmed]
  30. Multiple plasma exchanges successfully maintain a young adult patient with Crigler-Najjar syndrome type I. Ahmed, P., Pratt, A., Land, V.J., Flye, M.W., Chaplin, H. Journal of clinical apheresis. (1989) [Pubmed]
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