BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

175 related articles for article (PubMed ID: 10942404)

  • 1. 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 JC; Ferreira GC
    Blood; 2000 Aug; 96(4):1545-9. PubMed ID: 10942404
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation.
    Gouya L; Puy H; Lamoril J; Da Silva V; Grandchamp B; Nordmann Y; Deybach JC
    Blood; 1999 Mar; 93(6):2105-10. PubMed ID: 10068685
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.
    Rüfenacht UB; Gouya L; Schneider-Yin X; Puy H; Schäfer BW; Aquaron R; Nordmann Y; Minder EI; Deybach JC
    Am J Hum Genet; 1998 Jun; 62(6):1341-52. PubMed ID: 9585598
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Examination of ferrochelatase mutations that cause erythropoietic protoporphyria.
    Sellers VM; Dailey TA; Dailey HA
    Blood; 1998 May; 91(10):3980-5. PubMed ID: 9573038
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Hypermethylation of the wild-type ferrochelatase allele is closely associated with severe liver complication in a family with erythropoietic protoporphyria.
    Onaga Y; Ido A; Uto H; Hasuike S; Kusumoto K; Moriuchi A; Numata M; Nagata K; Hori T; Hayashi K; Tsubouchi H
    Biochem Biophys Res Commun; 2004 Sep; 321(4):851-8. PubMed ID: 15358105
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Erythropoietic protoporphyria.
    Lecha M; Puy H; Deybach JC
    Orphanet J Rare Dis; 2009 Sep; 4():19. PubMed ID: 19744342
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria.
    Wiman A; Floderus Y; Harper P
    J Hum Genet; 2003; 48(2):70-6. PubMed ID: 12601550
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genotypic determinants of phenotype in North American patients with erythropoietic protoporphyria.
    Risheg H; Chen FP; Bloomer JR
    Mol Genet Metab; 2003; 80(1-2):196-206. PubMed ID: 14567969
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele.
    Gouya L; Deybach JC; Lamoril J; Da Silva V; Beaumont C; Grandchamp B; Nordmann Y
    Am J Hum Genet; 1996 Feb; 58(2):292-9. PubMed ID: 8571955
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. A Novel Mutation in the FECH Gene in a Czech Family with Erythropoietic Protoporphyria and a Population Study of IVS3-48C Variant Contributing to the Disease.
    Farrag MS; Kučerová J; Šlachtová L; Šeda O; Šperl J; Martásek P
    Folia Biol (Praha); 2015; 61(6):227-32. PubMed ID: 26789144
    [TBL] [Abstract][Full Text] [Related]  

  • 12. New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care.
    Schneider-Yin X; Gouya L; Meier-Weinand A; Deybach JC; Minder EI
    Eur J Pediatr; 2000 Oct; 159(10):719-25. PubMed ID: 11039124
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A "null allele" mutation is responsible for erythropoietic protoporphyria in an Israeli patient who underwent liver transplantation: relationships among biochemical, clinical, and genetic parameters.
    Schoenfeld N; Mamet R; Minder EI; Schneider-Yin X
    Blood Cells Mol Dis; 2003; 30(3):298-301. PubMed ID: 12737948
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Inheritance in erythropoietic protoporphyria].
    Schmitt C; Ducamp S; Gouya L; Deybach JC; Puy H
    Pathol Biol (Paris); 2010 Oct; 58(5):372-80. PubMed ID: 20850938
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Haplotype analysis of families with erythropoietic protoporphyria and novel mutations of the ferrochelatase gene.
    Wang X; Yang L; Kurtz L; Lichtin A; DeLeo VA; Bloomer J; Poh-Fitzpatrick MB
    J Invest Dermatol; 1999 Jul; 113(1):87-92. PubMed ID: 10417624
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of FECH gene multiple variations in two Chinese patients with erythropoietic protoporphyria and a review.
    Long ZB; Wang YW; Yang C; Liu G; Du YL; Nie GJ; Chang YZ; Han B
    J Zhejiang Univ Sci B; 2016 Oct.; 17(10):813-820. PubMed ID: 27704751
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Ferrochelatase.
    Ferreira GC
    Int J Biochem Cell Biol; 1999 Oct; 31(10):995-1000. PubMed ID: 10582332
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Production and characterization of erythropoietic protoporphyric heterodimeric ferrochelatases.
    Najahi-Missaoui W; Dailey HA
    Blood; 2005 Aug; 106(3):1098-104. PubMed ID: 15831704
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular genetics of erythropoietic protoporphyria.
    Todd DJ
    Photodermatol Photoimmunol Photomed; 1998 Apr; 14(2):70-3. PubMed ID: 9638728
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Human ferrochelatase: a novel mutation in patients with erythropoietic protoporphyria and an isoform caused by alternative splicing.
    Schneider-Yin X; Schäfer BW; Tönz O; Minder EI
    Hum Genet; 1995 Apr; 95(4):391-6. PubMed ID: 7705834
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.