Molecular pathogenesis of iron overload

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

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Cloning and characterization of a mammalian proton-coupled metal-ion transporter

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

Pigeon, C., Ilyin, G., Courselaud, B., Leroyer, P., Turlin, B., Brissot, P., & Loréal, O. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m008923200 · Cited by 1,697 · see citing works

Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter

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A Novel Duodenal Iron-Regulated Transporter, IREG1, Implicated in the Basolateral Transfer of Iron to the Circulation

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A Novel Mammalian Iron-regulated Protein Involved in Intracellular Iron Metabolism

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Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 ( <i>USF2</i> ) knockout mice

Nicolas, G., Bennoun, M., Devaux, I., Beaumont, C., Grandchamp, B., Kahn, A., & Vaulont, S. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.151179498 · Cited by 1,233 · see citing works

Regulating the fate of mRNA: the control of cellular iron metabolism

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Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene

Fleming, M. D., Trenor, C. C., Su, M. A., Foernzler, D., Beier, D. R., Dietrich, W. F., & Andrews, N. C. (1997) · Nature Genetics · doi:10.1038/ng0897-383 · Cited by 1,159 · see citing works

An iron-regulated ferric reductase associated with the absorption of dietary iron

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Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse

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<i>Nramp</i> <i>2</i> is mutated in the anemic Belgrade ( <i>b</i> ) rat: Evidence of a role for Nramp2 in endosomal iron transport

Fleming, M. D., Romano, M. A., Su, M. A., Garrick, L. M., Garrick, M. D., & Andrews, N. C. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.3.1148 · Cited by 936 · see citing works

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

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

Camaschella, C., Roetto, A., Calì, A., De Gobbi, M., Garozzo, G., Carella, M., Majorano, N., Totaro, A., & Gasparini, P. (2000) · Nature Genetics · doi:10.1038/75534 · Cited by 803 · see citing works

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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Prevalence of Hemochromatosis among 11,065 Presumably Healthy Blood Donors

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Targeted gene disruption reveals an essential role for ceruloplasmin in cellular iron efflux

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

Montosi, G., Donovan, A., Totaro, A., Garuti, C., Pignatti, E., Cassanelli, S., Trenor, C. C., Gasparini, P., Andrews, N. C., & Pietrangelo, A. (2001) · Journal of Clinical Investigation · doi:10.1172/jci13468 · Cited by 555 · see citing works

HFE gene knockout produces mouse model of hereditary hemochromatosis

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A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

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The Hemochromatosis Founder Mutation in HLA-H Disrupts β2-Microglobulin Interaction and Cell Surface Expression

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Oval Cell Numbers in Human Chronic Liver Diseases Are Directly Related to Disease Severity

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Cellular and subcellular localization of the Nramp2 iron transporter in the intestinal brush border and regulation by dietary iron.

Canonne-Hergaux, F., Gruenheid, S., Ponka, P., & Gros, P. (1999) · Blood · doi:10.1182/blood.v93.12.4406 · Cited by 451 · see citing works

Haemochromatosis and HLA–H

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Mutation Analysis in Hereditary Hemochromatosis

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Nramp2 is mutated in the anemic Belgrade (b) rat : evidence of a role for Nramp2 in endosomal iron transport

Flemming (1998) · Medical Entomology and Zoology · Cited by 412 · see citing works

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

Mura, C., Raguénès, O., & Férec, C. (1999) · Blood · doi:10.1182/blood.v93.8.2502 · Cited by 406 · see citing works

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 · see citing works

Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis

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Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.

Carella, M., D'Ambrosio, L., Totaro, A., Grifa, A., Valentino, M. A., Piperno, A., Girelli, D., Roetto, A., Franco, B., Gasparini, P., et al. (1997) · Europe PMC (PubMed Central) · Cited by 327 · see citing works

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

Zoller, H., Weiss, G., Theurl, I., Koch, R. O., Vogel, W., Obrist, P., Pietrangelo, A., Montosi, G., & Haile, D. J. (2001) · Gastroenterology · doi:10.1053/gast.2001.24033 · Cited by 304 · see citing works

Iron metabolism in health and disease

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Molecular medicine and hemochromatosis: At the crossroads

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The Effect of HFE Genotypes on Measurements of Iron Overload in Patients Attending a Health Appraisal Clinic

Beutler, E., Felitti, V., Gelbart, T., & Ho, N. (2000) · Annals of Internal Medicine · doi:10.7326/0003-4819-133-5-200009050-00008 · Cited by 276 · see citing works

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 · see citing works

Mechanism of increased iron absorption in murine model of hereditary hemochromatosis: Increased duodenal expression of the iron transporter DMT1

Fleming, R. E., Migas, M. C., Zhou, X., Jiang, J., Britton, R. S., Brunt, E. M., Tomatsu, S., Waheed, A., Bacon, B. R., & Sly, W. S. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.6.3143 · Cited by 269 · see citing works

Hereditary Hemochromatosis in Adults without Pathogenic Mutations in the Hemochromatosis Gene

Pietrangelo, A., Montosi, G., Totaro, A., Garuti, C., Conte, D., Cassanelli, S., Fraquelli, M., Sardini, C., Vasta, F., & Gasparini, P. (1999) · New England Journal of Medicine · doi:10.1056/nejm199909023411003 · Cited by 265 · see citing works

The lipid peroxidation end product 4‐hydroxy‐2,3‐nonenal up‐regulates transforming growth factor β1 expression in the macrophage lineage: a link between oxidative injury and fibrosclerosis 1

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

West, A. P., Bennett, M. J., Sellers, V. M., Andrews, N. C., Enns, C. A., & Bjorkman, P. J. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.c000664200 · Cited by 257 · see citing works

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

Parkkila, S., Waheed, A., Britton, R. S., Feder, J. N., Tsuchihashi, Z., Schatzman, R. C., Bacon, B. R., & Sly, W. S. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.6.2534 · Cited by 253 · see citing works

Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum

Waheed, A., Parkkila, S., Saarnio, J., Fleming, R. E., Zhou, X. Y., Tomatsu, S., Britton, R. S., Bacon, B. R., & Sly, W. S. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.4.1579 · Cited by 243 · see citing works

Juvenile Hemochromatosis Locus Maps to Chromosome 1q

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Localisation of divalent metal transporter 1 (DMT1) to the microvillus membrane of rat duodenal enterocytes in iron deficiency, but to hepatocytes in iron overload

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HFE Genotype in Patients with Hemochromatosis and Other Liver Diseases

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A simple genetic test identifies 90% of UK patients with haemochromatosis

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The Hereditary Hemochromatosis Protein, HFE, Specifically Regulates Transferrin-mediated Iron Uptake in HeLa Cells

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Managed care for viruses

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A simple genetic test identifies 90% of UK patients with haemochromatosis

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Genotypic/phenotypic correlations in genetic hemochromatosis: Evolution of diagnostic criteria

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

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Duodenal metal-transporter (DMT-1, NRAMP-2) expression in patients with hereditary haemochromatosis

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Regulation of transferrin, transferrin receptor, and ferritin genes in human duodenum

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

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Molecular and Cellular Iron Transport

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Multicentric Origin of Hemochromatosis Gene (HFE) Mutations

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

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

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Aceruloplasminemia

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A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote☆

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Two novel nonsense mutations of HFE gene in five unrelated Italian patients with hemochromatosis

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Pathophysiology of Iron Toxicity

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Iron uptake from plasma transferrin by the duodenum is impaired in the Hfe knockout mouse

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Duodenal ferritin synthesis in genetic hemochromatosis

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Expression of the DMT1 (NRAMP2/DCT1) iron transporter in mice with genetic iron overload disorders

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Kupffer cell staining by an HFE‐specific monoclonal antibody: implications for hereditary haemochromatosis

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Functional Expression Cloning and Characterization of SFT, a Stimulator of Fe Transport

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Lack of hepatic transferrin receptor expression in hemochromatosis

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Transferrin receptor distribution and regulation in the rat small intestine

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Iron regulatory protein as an endogenous sensor of iron in rat intestinal mucosa

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Excess iron into hepatocytes is required for activation of collagen type I gene during experimental siderosis

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Intestinal iron uptake determined by divalent metal transporter is enhanced in HFE-deficient mice with hemochromatosis

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

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Gastrointestinal function, divalent metal transporter-1 expressionand intestinal iron absorption

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