Hereditary Hemochromatosis — A New Look at an Old Disease

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

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Hepcidin, a urinary antimicrobial peptide synthesized in the liver

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Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

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A New Mouse Liver-specific Gene, Encoding a Protein Homologous to Human Antimicrobial Peptide Hepcidin, Is Overexpressed during Iron Overload

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Hepcidin, a key regulator of iron metabolism and mediator of anemia of inflammation

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Hepcidin, a putative mediator of anemia of inflammation, is a type II acute-phase protein

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LEAP-1, a novel highly disulfide-bonded human peptide, exhibits antimicrobial activity

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Survival and Causes of Death in Cirrhotic and in Noncirrhotic Patients with Primary Hemochromatosis

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Mutations in HFE2 cause iron overload in chromosome 1q–linked juvenile hemochromatosis

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Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

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The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding

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Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA

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The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22

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Global prevalence of putative haemochromatosis mutations.

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A Population-Based Study of the Clinical Expression of the Hemochromatosis Gene

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Molecular Cloning of Transferrin Receptor 2

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Crystal Structure of the Hemochromatosis Protein HFE and Characterization of Its Interaction with Transferrin Receptor

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Prevalence of Hemochromatosis among 11,065 Presumably Healthy Blood Donors

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Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis

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IDIOPATHIC HEMOCHROMATOSIS, AN IRON STORAGE DISEASE

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Autosomal-dominant hemochrom-atosis is associated with a mutation in the ferroportin (SLC11A3) gene

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Aceruloplasminemia: molecular characterization of this disorder of iron metabolism.

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Autosomal-dominant hemochrom-atosis is associated with a mutation in the ferroportin (SLC11A3) gene

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A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

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A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans

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HFE Mutations Analysis in 711 Hemochromatosis Probands: Evidence for S65C Implication in Mild Form of Hemochromatosis

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Hereditary hemochromatosis: Effects of C282Y and H63D mutations on association with β 2 -microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells

Waheed, A., Parkkila, S., Zhou, X. Y., Tomatsu, S., Tsuchihashi, Z., Feder, J. N., Schatzman, R. C., Britton, R. S., Bacon, B. R., & Sly, W. S. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.23.12384 · Cited by 380

Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis

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Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis

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Expression of the duodenal iron transporters divalent-metal transporter 1 and ferroportin 1 in iron deficiency and iron overload

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Screening for Hemochromatosis: High Prevalence and Low Morbidity in an Unselected Population of 65,238 Persons

Åsberg, A. (2001) · Scandinavian Journal of Gastroenterology · doi:10.1080/003655201750422747 · Cited by 296

Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis

Muckenthaler, M. U., Roy, C. N., Custodio, Á. O., Miñana, B., DEGRAAF, J., Montross, L. K., Andrews, N. C., & Hentze, M. W. (2003) · Nature Genetics · doi:10.1038/ng1152 · Cited by 295

Diagnosis and Management of Hemochromatosis

Tavill, A. S. (2001) · Hepatology · doi:10.1053/jhep.2001.24783 · Cited by 293

EASL International Consensus Conference on Haemochromatosis

Adams, P. C., Brissot, P., & Powell, L. W. (2000) · Journal of Hepatology · doi:10.1016/s0168-8278(01)80874-6 · Cited by 286

Transferrin receptor 2: Continued expression in mouse liver in the face of iron overload and in hereditary hemochromatosis

Fleming, R. E., Migas, M. C., Holden, C. C., Waheed, A., Britton, R. S., Tomatsu, S., Bacon, B. R., & Sly, W. S. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.040548097 · Cited by 273

Hereditary Hemochromatosis in Adults without Pathogenic Mutations in the Hemochromatosis Gene

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Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis

Merryweather‐Clarke, A. T. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg225 · Cited by 264

Comparison of the Interactions of Transferrin Receptor and Transferrin Receptor 2 with Transferrin and the Hereditary Hemochromatosis Protein HFE

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A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation

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Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract

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Transferrin Receptor 2-α Supports Cell Growth Both in Iron-chelated Cultured Cells and in Vivo

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Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis

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Expression of hepcidin in hereditary hemochromatosis: evidence for a regulation in response to the serum transferrin saturation and to non-transferrin-bound iron

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Juvenile Hemochromatosis Locus Maps to Chromosome 1q

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Co-trafficking of HFE, a Nonclassical Major Histocompatibility Complex Class I Protein, with the Transferrin Receptor Implies a Role in Intracellular Iron Regulation

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Disease-Related Conditions in Relatives of Patients with Hemochromatosis

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A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload.

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Overview and Mechanisms of Iron Regulation

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Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene☆

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Serum Ferritin Level Predicts Advanced Hepatic Fibrosis among U.S. Patients with Phenotypic Hemochromatosis

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Editorial Review: The Control of Iron Balance by the Intestinal Mucosa

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Multicentric Origin of Hemochromatosis Gene (HFE) Mutations

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Transferrin receptor is negatively modulated by the hemochromatosis protein HFE: Implications for cellular iron homeostasis

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Wild-type HFE protein normalizes transferrin iron accumulation in macrophages from subjects with hereditary hemochromatosis

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Regulation of transferrin-mediated iron uptake by HFE, the protein defective in hereditary hemochromatosis

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

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The hemochromatosis protein HFE inhibits iron export from macrophages

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A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient

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