BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

183 related articles for article (PubMed ID: 16532394)

  • 1. Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions.
    Bishop DF; Johansson A; Phelps R; Shady AA; Ramirez MC; Yasuda M; Caro A; Desnick RJ
    Am J Hum Genet; 2006 Apr; 78(4):645-58. PubMed ID: 16532394
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes.
    Bishop DF; Clavero S; Mohandas N; Desnick RJ
    Mol Med; 2011; 17(7-8):748-56. PubMed ID: 21365124
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of two new mutations in congenital erythropoietic porphyria.
    Bensidhoum M; Ged C; Hombrados I; Moreau-Gaudry F; Hift RS; Meissner P; Sturrock ED; de Verneuil H
    Eur J Hum Genet; 1995; 3(2):102-7. PubMed ID: 7552139
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations.
    Clavero S; Bishop DF; Haskins ME; Giger U; Kauppinen R; Desnick RJ
    Hum Mol Genet; 2010 Feb; 19(4):584-96. PubMed ID: 19934113
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular genetics of congenital erythropoietic porphyria.
    Desnick RJ; Glass IA; Xu W; Solis C; Astrin KH
    Semin Liver Dis; 1998; 18(1):77-84. PubMed ID: 9516681
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Study of the genotype-phenotype relationship in four cases of congenital erythropoietic porphyria.
    To-Figueras J; Badenas C; Mascaró JM; Madrigal I; Merino A; Bastida P; Lecha M; Herrero C
    Blood Cells Mol Dis; 2007; 38(3):242-6. PubMed ID: 17270473
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Two brothers with mild congenital erythropoietic porphyria due to a novel genotype.
    Berry AA; Desnick RJ; Astrin KH; Shabbeer J; Lucky AW; Lim HW
    Arch Dermatol; 2005 Dec; 141(12):1575-9. PubMed ID: 16365260
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation.
    Clavero S; Bishop DF; Giger U; Haskins ME; Desnick RJ
    Mol Med; 2010; 16(9-10):381-8. PubMed ID: 20485863
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene.
    Warner CA; Yoo HW; Roberts AG; Desnick RJ
    J Clin Invest; 1992 Feb; 89(2):693-700. PubMed ID: 1737856
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Advances in understanding the pathogenesis of congenital erythropoietic porphyria.
    Di Pierro E; Brancaleoni V; Granata F
    Br J Haematol; 2016 May; 173(3):365-79. PubMed ID: 26969896
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene.
    Shady AA; Colby BR; Cunha LF; Astrin KH; Bishop DF; Desnick RJ
    Br J Haematol; 2002 Jun; 117(4):980-7. PubMed ID: 12060141
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A knock-in mouse model of congenital erythropoietic porphyria.
    Ged C; Mendez M; Robert E; Lalanne M; Lamrissi-Garcia I; Costet P; Daniel JY; Dubus P; Mazurier F; Moreau-Gaudry F; de Verneuil H
    Genomics; 2006 Jan; 87(1):84-92. PubMed ID: 16314073
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Congenital erythropoietic porphyria: Recent advances.
    Erwin AL; Desnick RJ
    Mol Genet Metab; 2019 Nov; 128(3):288-297. PubMed ID: 30685241
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene.
    Xu W; Astrin KH; Desnick RJ
    Hum Mutat; 1996; 7(3):187-92. PubMed ID: 8829650
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Congenital erythropoietic porphyria. A mild variant with low uroporphyrin I levels due to a missense mutation (A66V) encoding residual uroporphyrinogen III synthase activity.
    Warner CA; Poh-Fitzpatrick MB; Zaider EF; Tsai SF; Desnick RJ
    Arch Dermatol; 1992 Sep; 128(9):1243-8. PubMed ID: 1519940
    [TBL] [Abstract][Full Text] [Related]  

  • 16. ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.
    To-Figueras J; Ducamp S; Clayton J; Badenas C; Delaby C; Ged C; Lyoumi S; Gouya L; de Verneuil H; Beaumont C; Ferreira GC; Deybach JC; Herrero C; Puy H
    Blood; 2011 Aug; 118(6):1443-51. PubMed ID: 21653323
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria.
    Blouin JM; Duchartre Y; Costet P; Lalanne M; Ged C; Lain A; Millet O; de Verneuil H; Richard E
    Proc Natl Acad Sci U S A; 2013 Nov; 110(45):18238-43. PubMed ID: 24145442
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.
    Weiss Y; Balwani M; Chen B; Yasuda M; Nazarenko I; Desnick RJ
    Mol Genet Metab; 2019 Nov; 128(3):358-362. PubMed ID: 30454868
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation.
    Martinez Peinado C; Díaz de Heredia C; To-Figueras J; Arias-Santiago S; Nogueras P; Elorza I; Olivé T; Bádenas C; Moreno MJ; Tercedor J; Herrero C
    Pediatr Dermatol; 2013; 30(4):484-9. PubMed ID: 23557135
    [TBL] [Abstract][Full Text] [Related]  

  • 20. C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.
    Frank J; Wang X; Lam HM; Aita VM; Jugert FK; Goerz G; Merk HF; Poh-Fitzpatrick MB; Christiano AM
    Ann Hum Genet; 1998 May; 62(Pt 3):225-30. PubMed ID: 9803266
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.