These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

155 related articles for article (PubMed ID: 8946173)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Uroporphyrinogen III synthase mutations related to congenital erythropoietic porphyria identify a key helix for protein stability.
    Fortian A; Castaño D; Ortega G; Laín A; Pons M; Millet O
    Biochemistry; 2009 Jan; 48(2):454-61. PubMed ID: 19099412
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 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. [Congenital erythropoietic porphyria].
    Tanigawa K; Takamura N; Yamashita S
    Nihon Rinsho; 1995 Jun; 53(6):1422-6. PubMed ID: 7616657
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Günther's disease).
    Deybach JC; de Verneuil H; Boulechfar S; Grandchamp B; Nordmann Y
    Blood; 1990 May; 75(9):1763-5. PubMed ID: 2331520
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.