307 related articles for article (PubMed ID: 11753383)
1. 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]
2. 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]
3. Molecular characterization of erythropoietic protoporphyria in South Africa.
Parker M; Corrigall AV; Hift RJ; Meissner PN
Br J Dermatol; 2008 Jul; 159(1):182-91. PubMed ID: 18460026
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. [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]
6. Co-existence of two functional mutations on the same allele of the human ferrochelatase gene in erythropoietic protoporphyria.
Di Pierro E; Brancaleoni V; Moriondo V; Besana V; Cappellini MD
Clin Genet; 2007 Jan; 71(1):84-8. PubMed ID: 17204051
[TBL] [Abstract][Full Text] [Related]
7. Biochemical abnormality in erythropoietic protoporphyria: cause and consequences.
Bloomer JR; Wang Y; Singhal A; Risheg H
J Pediatr Gastroenterol Nutr; 2006 Jul; 43 Suppl 1():S36-40. PubMed ID: 16819399
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Iron availability modulates aberrant splicing of ferrochelatase through the iron- and 2-oxoglutarate dependent dioxygenase Jmjd6 and U2AF(65.).
Barman-Aksözen J; Béguin C; Dogar AM; Schneider-Yin X; Minder EI
Blood Cells Mol Dis; 2013 Oct; 51(3):151-61. PubMed ID: 23787363
[TBL] [Abstract][Full Text] [Related]
10. A point mutation affecting an SP1 binding site in the promoter of the ferrochelatase gene impairs gene transcription and causes erythropoietic protoporphyria.
Di Pierro E; Cappellini MD; Mazzucchelli R; Moriondo V; Mologni D; Zanone Poma B; Riva A
Exp Hematol; 2005 May; 33(5):584-91. PubMed ID: 15850836
[TBL] [Abstract][Full Text] [Related]
11. Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria.
Aurizi C; Schneider-Yin X; Sorge F; Macrì A; Minder EI; Biolcati G
Mol Genet Metab; 2007 Apr; 90(4):402-7. PubMed ID: 17196862
[TBL] [Abstract][Full Text] [Related]
12. Identification of a ferrochelatase mutation in a Chinese family with erythropoietic protoporphyria.
Kong XF; Ye J; Gao DY; Gong QM; Zhang DH; Lu ZM; Lu YM; Zhang XX
J Hepatol; 2008 Feb; 48(2):375-9. PubMed ID: 18160121
[TBL] [Abstract][Full Text] [Related]
13. A 10376 bp deletion of FECH gene responsible for erythropoietic protoporphyria.
Di Pierro E; Brancaleoni V; Besana V; Ausenda S; Drury S; Cappellini MD
Blood Cells Mol Dis; 2008; 40(2):233-6. PubMed ID: 17888693
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Erythropoietic protoporphyria: a family study and report of a novel mutation in the FECH gene.
Morais P; Mota A; Baudrier T; Trigo F; Oliveira JP; Cerqueira R; Palmeiro A; Tavares P; Azevedo F
Eur J Dermatol; 2011; 21(4):479-83. PubMed ID: 21659066
[TBL] [Abstract][Full Text] [Related]
16. Late presentation of erythropoietic protoporphyria: case report and genetic analysis of family members.
Berroeta L; Man I; Goudie DR; Whatley SD; Elder GH; Ibbotson SH
Br J Dermatol; 2007 Nov; 157(5):1030-1. PubMed ID: 17711525
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma.
Minder EI; Schneider-Yin X; Mamet R; Horev L; Neuenschwander S; Baumer A; Austerlitz F; Puy H; Schoenfeld N
J Eur Acad Dermatol Venereol; 2010 Nov; 24(11):1349-53. PubMed ID: 20337824
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
