HFE mutations and transferrin receptor polymorphism analysis in porphyria cutanea tarda: A prospective study of 36 cases from southern France

British Journal of Dermatology

Volumn 144, Issue 3, 2001, Pages 533-539

  Dereure, O ^a   Aguilar Martinez, P ^a   Bessis, D ^a   Perney, P ^a   Vallat, C ^a   Guillot, B ^a,b   Blanc, F ^a   Guilhou, J J ^a  

^a HÔPITAL SAINT ELOI   (France)

^b NÎMES UNIVERSITY HOSPITAL   (France)

Author keywords

HFE gene; Iron; Porphyria cutanea tarda; Transferrin receptor

Indexed keywords

IRON; TRANSFERRIN RECEPTOR;

ADULT; ARTICLE; CLINICAL ARTICLE; DISEASE ASSOCIATION; GENE FREQUENCY; GENE MUTATION; HEPATITIS B; HEPATITIS C; HETEROZYGOSITY; HUMAN; HUMAN IMMUNODEFICIENCY VIRUS INFECTION; INCIDENCE; IRON OVERLOAD; POLYMERASE CHAIN REACTION; PORPHYRIA CUTANEA TARDA; PRIORITY JOURNAL; PROSPECTIVE STUDY;

ADULT; ALLELES; FEMALE; GENES, MHC CLASS I; GENOTYPE; HEPATITIS C; HISTOCOMPATIBILITY ANTIGENS CLASS I; HLA ANTIGENS; HUMANS; IRON OVERLOAD; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; POLYMORPHISM, GENETIC; PORPHYRIA CUTANEA TARDA; PROSPECTIVE STUDIES; RECEPTORS, TRANSFERRIN;

EID: 0035087466     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2133.2001.04079.x     Document Type: Article

References (44)

1. Iron overload in porphyria cutanea tarda
2. Genetic hemochromatosis in Italian patients with porphyria cutanea tarda: Possible explanation for iron overload
3. Screening of patients with iron overload to identify hemochromatosis and porphyria cutanea tarda
4. HLA-linked hemochromatosis alleles in sporadic porphyria cutanea tarda
5. The frequency of hemochromatosis-associated alleles is increased in British patients with sporadic porphyria cutanea tarda
6. A novel MHC-like gene is mutated in patients with hereditary haemochromatosis
7. A candidate gene for hemochromatosis: Frequency of the C282Y and H63D mutations
8. Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis
9. Molecular genetics and control of iron metabolism in hemochromatosis
10. Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor
11. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding
12. The hereditary hemochromatosis gene (HFE): A MHC class I-like gene that functions in the regulation of iron homeostasis
13. Correlation between genotype and phenotype in hereditary hemochromatosis: Analysis of 61 cases
14. Frequency of the C282Y mutation of hemochromatosis in five French populations
15. Frequency of the HFE C282Y and H63D mutations in distinct ethnic groups living in Spain
16. Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and controls
17. Heterogeneity of hemochromatosis in Italy
18. Compound heterozygotes for the hemochromatosis gene mutations: May they help to understand the pathophysiology of the disease?
19. Phenotypic expression of HFE mutations: A French study of 1110 unrelated iron-overloaded patients and relatives
20. HFE mutations analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of haemochromatosis
21. Two novel missense mutations of the HFE gene (1105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis patients
22. Mutations of the hereditary hemochromatosis candidate gene HLA-H in porphyria cutanea tarda
23. Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda
24. Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America
25. High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda
26. The C282Y mutation in the hemochromatosis gene (HFE) and hepatitis C virus infection are independent cofactors for porphyria cutanea tarda in Australian patients
27. Are His63Asp and Cys282Tyr HFE mutations associated with porphyria cutanea tarda? Data of patients from central and southern Italy
28. The most frequent HFE allele linked to porphyria cutanea tarda in Mediterraneans is His63Asp
29. Familial porphyria cutanea tarda: Characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles
30. Extremely rare association of HFE mutations with porphyria cutanea tarda in Japanese patients
31. C282Y and H63D mutations in the HFE gene are not associated with porphyria cutanea tarda in Bulgaria
32. Hemochromatosis gene and other factors contributing to the pathogenesis of porphyria cutanea tarda
33. New DNA polymorphisms define ethnically distinct haplotypes in the human transferrin receptor gene
34. Transferrin receptor mutation analysis in hereditary hemochromatosis patients
35. The effect of transferrin polymorphisms on iron metabolism
36. Simple and rapid detection of the newly described mutations in the HLA-H gene
37. The dysmetabolic iron overload syndrome is clinically and genetically distinct for HFE-related genetic hemochromatosis
38. Commentary: Iron metabolism in hepatitis C infection
39. Successful interferon therapy reverses enhanced hepatic iron accumulation and lipid peroxidation in chronic hepatitis C
40. Iron deposition and progression of disease in chronic hepatitis C. Role of interface hepatitis, portal inflammation
41. Porphyria cutanea tarda and hepatitis C virus: A case-control study and meta-analysis of the literature
42. Porphyria cutanea tarda and antibodies to hepatitis C virus
43. Transferrin receptor 2: Continued expression in mouse liver in the face of iron overload and in hereditary hemochromatosis
44. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22