Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene

Gastroenterology

Volumn 122, Issue 5, 2002, Pages 1295-1302

  Girelli, Domenico ^a   Bozzini, Claudia ^a   Roetto, Antonella ^a   Alberti, Federica ^a   Daraio, Filomena ^a   Colombari, Romano ^a   Olivieri, Oliviero ^a   Corrocher, Roberto ^a   Camaschella, Clara ^a  

^a UNIVERSITY OF VERONA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSFERRIN RECEPTOR;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHROMOSOME 6P; GENE DELETION; GENE MUTATION; HEMOCHROMATOSIS; HISTOPATHOLOGY; HUMAN; INTRON; IRON ABSORPTION; IRON OVERLOAD; LIVER BIOPSY; MALE; PRIORITY JOURNAL; RECEPTOR GENE; TISSUE INJURY;

EID: 0036242163     PISSN: 00165085     EISSN: None     Source Type: Journal    
DOI: 10.1053/gast.2002.32984     Document Type: Article

References (39)

1. Molecular medicine and hemochromatosis: At the crossroads
2. Disorders of iron metabolism
3. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
4. Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor
5. Crystal structure of the hereditary hemochromatosis protein HFE complexed with transferrin receptor
6. Genetic iron beyond haemochromatosis: Clinical effects of HLA-H mutations
7. Two novel missense mutations of the HFE gene (1105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands
8. A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote
9. Two novel nonsense mutations of HFE gene in five unrelated Italian patients with hemochromatosis
10. Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum
11. Juvenile idiopathic haemochromatosis: A life-threatening disorder presenting as hypogonadotropic hypogonadism
12. Juvenile hemochromatosis
13. The juvenile hemochromatosis locus maps to chromosome 1q
14. Heterogeneity of hemochromatosis in Italy
15. The gene encoding transferrin receptor 2 is mutated in a new type of hemochromatosis mapping to 7q22
16. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene
17. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
18. A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation
19. Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter
20. Molecular cloning of transferrin receptor 2: A new member of the transferrin receptor-like family
21. Transferrin receptor 2-α supports cell growth both in iron-chelated cultured cells and in vivo
22. Regulation of expression of murine transferrin receptor 2
23. Transferrin receptor 2: Continued expression in mouse liver in the face of iron overload and hereditary hemochromatosis
24. New mutations inactivating transferrin receptor 2 in hemochromatosis type 3
25. Mutation analysis of the HLA-H gene in Italian hemochromatosis patients
26. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome
27. Hepatic pathology in relatives of patients with hemochromatosis
28. Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis
29. A population-based study of the clinical expression of the hemochromatosis gene
30. Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation
31. Genotypic/phenotypic correlations in genetic hemochromatosis: Evolution of diagnostic criteria
32. Classification and diagnosis of iron overload
33. Iron overload in Africa. Interaction between a gene and dietary iron content
34. TFR2 Y250X mutation in Italy
35. Transferrin receptor-2 (TFR2) mutation Y250X in Alabama Caucasian and African American subjects with and without primary iron overload
36. Large-scale sequencing of two regions in human chromosome 7q22: Analysis of 650 kb of genomic sequence around the Epo and Cutl1 loci reveals 17 genes
37. Comparison of the interactions of transferrin receptor and transferrin receptor 2 with transferrin and the hereditary hemochromatosis protein HFE
38. Transferrin receptor 2 interacts with HFE and is implicated in crypt cell iron signalling