BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

157 related articles for article (PubMed ID: 8829650)

  • 1. 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]  

  • 2. 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]  

  • 3. Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene.
    Xu W; Warner CA; Desnick RJ
    J Clin Invest; 1995 Feb; 95(2):905-12. PubMed ID: 7860775
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.
    Fontanellas A; Bensidhoum M; Enriquez de Salamanca R; Moruno Tirado A; de Verneuil H; Ged C
    Eur J Hum Genet; 1996; 4(5):274-82. PubMed ID: 8946173
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria.
    Solis C; Aizencang GI; Astrin KH; Bishop DF; Desnick RJ
    J Clin Invest; 2001 Mar; 107(6):753-62. PubMed ID: 11254675
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family.
    Takamura N; Hombrados I; Tanigawa K; Namba H; Nagayama Y; de Verneuil H; Yamashita S
    Am J Med Genet; 1997 Jun; 70(3):299-302. PubMed ID: 9188670
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of mutations in the uroporphyrinogen III cosynthase gene in German patients with congenital erythropoietic porphyria.
    Wiederholt T; Poblete-Gutiérrez P; Gardlo K; Goerz G; Bolsen K; Merk HF; Frank J
    Physiol Res; 2006; 55 Suppl 2():S85-92. PubMed ID: 17298225
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts.
    Bishop DF; Schneider-Yin X; Clavero S; Yoo HW; Minder EI; Desnick RJ
    Blood; 2010 Feb; 115(5):1062-9. PubMed ID: 19965637
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.
    Boulechfar S; Da Silva V; Deybach JC; Nordmann Y; Grandchamp B; de Verneuil H
    Hum Genet; 1992 Jan; 88(3):320-4. PubMed ID: 1733834
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family.
    Tanigawa K; Bensidhoum M; Takamura N; Namba H; Yamashita S; de Verneuil H; Ged C
    Hum Genet; 1996 May; 97(5):557-60. PubMed ID: 8655129
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Structural, thermodynamic, and mechanistical studies in uroporphyrinogen III synthase: molecular basis of congenital erythropoietic porphyria.
    Fortian A; Castaño D; Gonzalez E; Laín A; Falcon-Perez JM; Millet O
    Adv Protein Chem Struct Biol; 2011; 83():43-74. PubMed ID: 21570665
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.