BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

191 related articles for article (PubMed ID: 7918679)

  • 1. A novel splicing mutation in the ferrochelatase gene responsible for erythropoietic protoporphyria.
    Wang X; Poh-Fitzpatrick M; Piomelli S
    Biochim Biophys Acta; 1994 Oct; 1227(1-2):25-7. PubMed ID: 7918679
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel mutation in erythropoietic protoporphyria: an aberrant ferrochelatase mRNA caused by exon skipping during RNA splicing.
    Wang X; Poh-Fitzpatrick M; Carriero D; Ostasiewicz L; Chen T; Taketani S; Piomelli S
    Biochim Biophys Acta; 1993 Apr; 1181(2):198-200. PubMed ID: 8481408
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Systematic screening for RNA with skipped exons--splicing mutations of the ferrochelatase gene.
    Wang X; Poh-Fitzpatrick M; Chen T; Malavade K; Carriero D; Piomelli S
    Biochim Biophys Acta; 1995 Jun; 1271(2-3):358-62. PubMed ID: 7541650
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Screening for ferrochelatase mutations: molecular heterogeneity of erythropoietic protoporphyria.
    Wang X; Poh-Fitzpatrick M; Taketani S; Chen T; Piomelli S
    Biochim Biophys Acta; 1994 Jan; 1225(2):187-90. PubMed ID: 8280787
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice.
    Barman-Aksözen J; C Wiek P; Bansode VB; Koentgen F; Trüb J; Pelczar P; Cinelli P; Schneider-Yin X; Schümperli D; Minder EI
    Dis Model Mech; 2017 Mar; 10(3):225-233. PubMed ID: 28093505
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular characterization of a ferrochelatase gene defect causing anomalous RNA splicing in erythropoietic protoporphyria.
    Sarkany RP; Whitcombe DM; Cox TM
    J Invest Dermatol; 1994 Apr; 102(4):481-4. PubMed ID: 8151124
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Human erythropoietic protoporphyria: identification of a mutation at the splice donor site of intron 7 causing exon 7 skipping of the ferrochelatase gene.
    Nakahashi Y; Miyazaki H; Kadota Y; Naitoh Y; Inoue K; Yamamoto M; Hayashi N; Taketani S
    Hum Mol Genet; 1993 Jul; 2(7):1069-70. PubMed ID: 8364548
    [No Abstract]   [Full Text] [Related]  

  • 10. A new ferrochelatase mutation combined with low expression alleles in a Japanese patient with erythropoietic protoporphyria.
    Yasui Y; Muranaka S; Tahara T; Shimizu R; Watanabe S; Horie Y; Nanba E; Uezato H; Takamiyagi A; Taketani S; Akagi R
    Clin Sci (Lond); 2002 May; 102(5):501-6. PubMed ID: 11980567
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Molecular characterization of a novel defect occurring de novo associated with erythropoietic protoporphyria.
    Wang X
    Biochim Biophys Acta; 1996 Aug; 1316(3):149-52. PubMed ID: 8781532
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria.
    Nakahashi Y; Fujita H; Taketani S; Ishida N; Kappas A; Sassa S
    Proc Natl Acad Sci U S A; 1992 Jan; 89(1):281-5. PubMed ID: 1729699
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH.
    Gouya L; Puy H; Robreau AM; Bourgeois M; Lamoril J; Da Silva V; Grandchamp B; Deybach JC
    Nat Genet; 2002 Jan; 30(1):27-8. PubMed ID: 11753383
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish family.
    Schneider-Yin X; Mamet R; Minder EI; Schoenfeld N
    J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S363-7. PubMed ID: 18758989
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Identification of a single base pair deletion (40 del G) in exon 1 of the ferrochelatase gene in patients with erythropoietic protoporphyria.
    Todd DJ; Hughes AE; Ennis KT; Ward AJ; Burrows D; Nevin NC
    Hum Mol Genet; 1993 Sep; 2(9):1495-6. PubMed ID: 8242081
    [No Abstract]   [Full Text] [Related]  

  • 18. A genotype-phenotype correlation between null-allele mutations in the ferrochelatase gene and liver complication in patients with erythropoietic protoporphyria.
    Minder EI; Gouya L; Schneider-Yin X; Deybach JC
    Cell Mol Biol (Noisy-le-grand); 2002 Feb; 48(1):91-6. PubMed ID: 11929053
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel splicing mutation and haplotype analysis of the FECH gene in a Chinese family with erythropoietic protoporphyria.
    Ma J; Xiao S; An J; Wang X; Xu Q; Dong Y; Feng Y; Wang J
    J Eur Acad Dermatol Venereol; 2010 Jun; 24(6):726-9. PubMed ID: 19888946
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.