Andrews, NC.

Disorders of iron metabolism.
New England Journal of Medicine 1999; 341(26): 1986-1995.
Description: Review Article. Overview of disorders resulting in hemochromatosis.
PubMed citation number: 10607817

Barton JC, McDonnell SM, Adams PC et al.

Management of hemochromatosis: Hemochromatosis Management Working Group.
Annals of Internal Medicine 1998; 129(11): 932-939.
Description: Review Article. Broad and pragmatic guidelines for management, with a particular emphasis on prevention of end-organ damage.
PubMed citation number: 9867745

Drakesmith H, Sweeland E, Schimanski L et al.

The hemochromatosis protein HFE inhibits iron export from macrophages.
Proceedings from the National Academy of Sciences 2002; 99(24): 15602-15607.
Description: Show that HFE protein inhibits iron release by macrophages, a function mutually exclusive to HFE protein competitively binding to the transferring receptor-1.
Pub Med citation number: 12429850

Feder JN, Gnirke A, Thomas W et al.

A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis
Nature Genetics 1996; 13(4): 399-408
Description: First characterization of major gene mutated in hereditary hemochromatosis
PubMed citation number: 9696333

Feder JN, Penny DM, Irrinki A et al.

The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding
Biochemistry 1998; 95(4): 1472-1477.
Description: Establishes a molecular link between the HFE protein and iron transport in hereditary hemochromatosis
PubMed citation number: 9465039

Gordeuk V, Mukiibi J, Hasstedt SJ et al.

Iron overload in Africa. Interaction between a gene and dietary iron content.
New England Journal of Medicine 1992; 326(2): 95-100.
Description: Iron overload in Africa results from increased dietary iron content and a gene distinct from a HLA-linked locus. See also Moyo VM, Mandishona E, Hasstedt HJ et al. Evidence of genetic transmission in African iron overload. Blood 1998; 91(3): 1076-82. PubMed citation number: 9446671
PubMed citation number: 1727237

Harris ZL, Takahashi Y, Miyajima H et al.

Aceruloplasminemia: Molecular Characterization of this Disorder of Iron Metabolism.
Proceedings of the National Academy of Sciences 1995; 92(7): 2539-2543
Description: Idenitification of mutation in ceruloplasmin gene in patient with clinical and pathologic findings of iron overload.
PubMed ciation number: 7708681

Mura C, Raguenes O and Ferec C.

HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis.
Blood 1999; 93(8): 2501-2505.
Description: Genetic analysis that confirms population prevalence of C282Y and H63D mutations and finds previously undescribed S65C missense substitution in 7.8% of non-C282Y and non-H63D probands.
PubMed citation number: 10194428

Murray KF and Kowdley KV.

Neonatal hemochromatosis
Pediatrics 2001; 108(4): 960-964.
Description: Review Article
PubMed citation number: 11581451

Nicolas G, Bennoun M, Devaux I et al.

Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice.
Proceedings of the National Academy of Sciences 2001; 98(15): 8780-5
Description: Lack of hepcidin expression is necessary for tissue iron overload
PubMed ciation number: 11447267

Olynyk JK, Cullen DJ, Aquilia S et al.

A population-based study of the clinical expression of the hemochromatosis gene.
New England Journal of Medicine 1999; 341(10): 718-724.
Description: Prospective analysis of subjects with persistently elevated transferring saturation levels or with C282Y homozygous mutations.
PubMed citation number: 10471457

Roetto A, Totaro A, Cazzola M et al.

Juvenile hemochromatosis locus maps to chromosome 1q.
American Journal of Human Genetics 1999; 64(5): 1388-1393.
Description: Juvenile hemochromatosis is genetically distinct from adult hereditary hemochromatosis.
PubMed citation number: 10205270

Trinder D, Fox C, Vautier G et al.

Molecular pathogenesis of iron overload.
Gut 2002; 51: 290-295.
Description: Review article. Overview of recently –identified genes important to iron metabolism and their proposed mechanisms.
PubMed citation number: 12117898

Zhou XY, Tomatsu S, Fleming RE et al.

HFE gene knockout produces mouse model of hereditary hemochromatosis.
Proceedings of the National Academy of Sciences 1998; 95(5): 2492-2497
Description: Mouse model described.
PubMed citation number: 9482913

Zoller H, Pietrangelo A, Vogel W, and Weiss G.

Duodenal metal transporter (DMT-1, NRAMP-2) expression in patients with hereditary hemochromatosis.
Lancet 1999; 353(9170): 2120-2123
Description: The increased expressin of NRAMP-2 in patients with hereditary hemochromatosis may lead to increased iron uptake and iron overload.
PubMed citation number: 10382687

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