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Protoporphyria, Erythropoietic

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  1. Heme-regulated eIF2alpha kinase modifies the phenotypic severity of murine models of erythropoietic protoporphyria and beta-thalassemia. Han, A.P., Fleming, M.D., Chen, J.J. J. Clin. Invest. (2005) [Pubmed]
  2. Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria. Schneider-Yin, X., Gouya, L., Dorsey, M., Rüfenacht, U., Deybach, J.C., Ferreira, G.C. Blood (2000) [Pubmed]
  3. Liver cirrhosis in erythropoietic protoporphyria: improvement of liver function with ursodeoxycholic acid. Pirlich, M., Lochs, H., Schmidt, H.H. Am. J. Gastroenterol. (2001) [Pubmed]
  4. The treatment of erythropoietic protoporphyria. Experience with beta-carotene. Zaynoun, S.T., Hunter, J.A., Darby, F.J., Zarembski, P., Johnson, B.E., Frain-Bell, W. Br. J. Dermatol. (1977) [Pubmed]
  5. Cimetidine in the treatment of porphyria cutanea tarda. Horie, Y., Tanaka, K., Okano, J., Ohgi, N., Kawasaki, H., Yamamoto, S., Kondo, M., Sassa, S. Intern. Med. (1996) [Pubmed]
  6. The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH. Gouya, L., Puy, H., Robreau, A.M., Bourgeois, M., Lamoril, J., Da Silva, V., Grandchamp, B., Deybach, J.C. Nat. Genet. (2002) [Pubmed]
  7. Long-term cure of the photosensitivity of murine erythropoietic protoporphyria by preselective gene therapy. Pawliuk, R., Bachelot, T., Wise, R.J., Mathews-Roth, M.M., Leboulch, P. Nat. Med. (1999) [Pubmed]
  8. Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. Gouya, L., Martin-Schmitt, C., Robreau, A.M., Austerlitz, F., Da Silva, V., Brun, P., Simonin, S., Lyoumi, S., Grandchamp, B., Beaumont, C., Puy, H., Deybach, J.C. Am. J. Hum. Genet. (2006) [Pubmed]
  9. Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria. Rüfenacht, U.B., Gouya, L., Schneider-Yin, X., Puy, H., Schäfer, B.W., Aquaron, R., Nordmann, Y., Minder, E.I., Deybach, J.C. Am. J. Hum. Genet. (1998) [Pubmed]
  10. Microcytic anemia, erythropoietic protoporphyria, and neurodegeneration in mice with targeted deletion of iron-regulatory protein 2. Cooperman, S.S., Meyron-Holtz, E.G., Olivierre-Wilson, H., Ghosh, M.C., McConnell, J.P., Rouault, T.A. Blood (2005) [Pubmed]
  11. Photoprotection in erythropoietic protoporphyria: mechanism of photoprotection by beta carotene. Moshell, A.N., Bjornson, L. J. Invest. Dermatol. (1977) [Pubmed]
  12. Erythropoietic protoporphyria: four novel frameshift mutations in the ferrochelatase gene. Wang, X., Piomelli, S., Peacocke, M., Christiano, A.M., Poh-Fitzpatrick, M.B. J. Invest. Dermatol. (1997) [Pubmed]
  13. Carotenoid pigments and the treatment of erythropoietic protoporphyria. Mathews-Roth, M.M. J. Infect. Dis. (1978) [Pubmed]
  14. Cimetidine in erythropoietic protoporphyria. Tanigawa, K., Yamashita, S., Nakata, K., Nagataki, S. Am. J. Gastroenterol. (1994) [Pubmed]
  15. Relief of the photosensitivity of erythropoietic protoporphyria by pyridoxine. Ross, J.B., Moss, M.A. J. Am. Acad. Dermatol. (1990) [Pubmed]
  16. Haplotype analysis in determination of the heredity of erythropoietic protoporphyria among Swiss families. Schneider-Yin, X., Rüfenacht, U.B., Hergersberg, M., Schnyder, C., Deybach, J.C., Minder, E.I. J. Invest. Dermatol. (2001) [Pubmed]
  17. Structure and function of ferrochelatase. Ferreira, G.C., Franco, R., Lloyd, S.G., Moura, I., Moura, J.J., Huynh, B.H. J. Bioenerg. Biomembr. (1995) [Pubmed]
  18. Biliary fibrosis associated with altered bile composition in a mouse model of erythropoietic protoporphyria. Meerman, L., Koopen, N.R., Bloks, V., Van Goor, H., Havinga, R., Wolthers, B.G., Kramer, W., Stengelin, S., Müller, M., Kuipers, F., Jansen, P.L. Gastroenterology (1999) [Pubmed]
  19. Immunohistochemical studies of amyloid P component and fibronectin in erythropoietic protoporphyria. Breathnach, S.M., Bhogal, B., de Beer, F.C., Melrose, S.M., Black, M.M., Pepys, M.B. Br. J. Dermatol. (1983) [Pubmed]
  20. Porphyrin synthesis in blood cells of patients with erythropoietic protoporphyria. De Goeij, A.F., Smit, S., Steveninck, J.V. Clin. Chim. Acta (1977) [Pubmed]
  21. Increased expression of the Abcg2 transporter during erythroid maturation plays a role in decreasing cellular protoporphyrin IX levels. Zhou, S., Zong, Y., Ney, P.A., Nair, G., Stewart, C.F., Sorrentino, B.P. Blood (2005) [Pubmed]
  22. Hepatic gene expression in protoporphyic Fech mice is associated with cholestatic injury but not a marked depletion of the heme regulatory pool. Davies, R., Schuurman, A., Barker, C.R., Clothier, B., Chernova, T., Higginson, F.M., Judah, D.J., Dinsdale, D., Edwards, R.E., Greaves, P., Gant, T.W., Smith, A.G. Am. J. Pathol. (2005) [Pubmed]
  23. Molecular analysis of functional and nonfunctional genes for human ferrochelatase: isolation and characterization of a FECH pseudogene and its sublocalization on chromosome 3. Whitcombe, D.M., Albertson, D.G., Cox, T.M. Genomics (1994) [Pubmed]
  24. Crystal structure of ferrochelatase: the terminal enzyme in heme biosynthesis. Al-Karadaghi, S., Hansson, M., Nikonov, S., Jönsson, B., Hederstedt, L. Structure (1997) [Pubmed]
  25. Mdr P-glycoproteins are not essential for biliary excretion of the hydrophobic heme precursor protoporphyrin in a griseofulvin-induced mouse model of erythropoietic protoporphyria. Plösch, T., Bloks, V.W., Baller, J.F., Havinga, R., Verkade, H.J., Jansen, P.L., Kuipers, F. Hepatology (2002) [Pubmed]
  26. A mouse model provides evidence that genetic background modulates anemia and liver injury in erythropoietic protoporphyria. Abitbol, M., Bernex, F., Puy, H., Jouault, H., Deybach, J.C., Guénet, J.L., Montagutelli, X. Am. J. Physiol. Gastrointest. Liver Physiol. (2005) [Pubmed]
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