Ferroportin mutation in autosomal dominant hemochromatosis: Loss of function, gain in understanding

Journal of Clinical Investigation

Volumn 108, Issue 4, 2001, Pages 521-522

  Fleming, R E ^a   Sly, W S ^a  

^a SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CERULOPLASMIN; FERRITIN; FERROPORTIN; UNCLASSIFIED DRUG;

AUTOSOMAL DOMINANT INHERITANCE; ENZYME ACTIVITY; GENE MUTATION; HEMOCHROMATOSIS; IRON ABSORPTION; IRON METABOLISM; MISSENSE MUTATION; NOTE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION;

EID: 0034883373     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI13739     Document Type: Note

References (17)

1. Disorders of iron metabolism
2. Molecular medicine and hemochromacosis: At the crossroads
3. Mutation analysis of the HLA-H gene in Italian hemochromatosis patients
4. Classification and diagnosis of iron overload
5. Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene
6. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene
7. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
8. A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation
9. Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter
10. A novel mammalian iron-regulated protein involved in intracellular iron metabolism
11. Expression of the duodenal iron transporters divalent-metal transporter 1 and ferroportin 1 in iron deficiency and iron overload
12. Aceruloplasminemia
13. Targeted gene disruption reveals an essential role for ceruloplasmin in cellular iron efflux
14. Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse
15. Effect of iron deficiency on placental transfer of iron and expression of iron transport proteins in vivo and in vitro
16. Mouse strain differences determine severity of iron accumulation in Hfe knockout model of hereditary hemochromatosis
17. Genes that modify the hemochromatosis phenotype in mice