Iron Overload: Better Understanding, Better Care], Rev Prat, vol.65, issue.10, pp.1305-1316, 2015. ,
A New Mouse Liver-specific Gene, Encoding a Protein Homologous to Human Antimicrobial Peptide Hepcidin, Is Overexpressed during Iron Overload, Journal of Biological Chemistry, vol.46, issue.11, pp.7811-7820, 2001. ,
DOI : 10.1074/jbc.M008922200
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, vol.96, issue.4, pp.8780-8785, 2001. ,
DOI : 10.1073/pnas.96.4.1579
URL : https://hal.archives-ouvertes.fr/inserm-00331349
Systemic Iron Homeostasis, Physiological Reviews, vol.93, issue.4, pp.1721-1762, 2013. ,
DOI : 10.1152/physrev.00008.2013
Systemic Iron Homeostasis and the Iron-Responsive Element/Iron-Regulatory Protein (IRE/IRP) Regulatory Network, Annual Review of Nutrition, vol.28, issue.1, pp.197-213, 2008. ,
DOI : 10.1146/annurev.nutr.28.061807.155521
Iron Deficiency Anemia, Nutrition in Clinical Practice, vol.23, issue.2, pp.128-169, 2008. ,
DOI : 10.1093/ndt/gfi253
The relationship between iron overload, clinical symptoms, and age in 410 patients with genetic hemochromatosis, Hepatology, vol.25, issue.1, pp.162-168, 1997. ,
DOI : 10.1002/hep.510250130
The Pathophysiology of Transfusional Iron Overload, Hematology/Oncology Clinics of North America, vol.28, issue.4, pp.683-701, 2014. ,
DOI : 10.1016/j.hoc.2014.04.003
Dysregulation of cellular iron metabolism in Friedreich ataxia: from primary iron-sulfur cluster deficit to mitochondrial iron accumulation The global prevalence of anaemia in 2011: WHO global database on anaemia World Health Organization, Front Pharmacol, vol.5, issue.10, pp.130-141, 2014. ,
Nuclear ferritin: A new role for ferritin in cell biology, Biochimica et Biophysica Acta (BBA) - General Subjects, vol.1800, issue.8, pp.793-800, 2010. ,
DOI : 10.1016/j.bbagen.2010.03.017
Carbonyl-iron supplementation induces hepatocyte nuclear changes in BALB/CJ male mice The identification of ferritin in the nucleus of K562 cells, and investigation of a possible role in the transcriptional regulation of adult beta-globin gene expression Eukaryotic DNA polymerases require an iron-sulfur cluster for the formation of active complexes, J Hepatol. J Cell Sci. Nature chemical biology, vol.301128, issue.141, pp.926-34825, 1999. ,
DNA helicase and helicase-nuclease enzymes with a conserved iron-sulfur cluster Iron and genome stability: an update, Nucleic Acids Res. Mutat Res, vol.40733, issue.1012, pp.4247-6092, 2012. ,
Essential functions of iron-requiring proteins in DNA replication, repair and cell cycle control Hydroxyurea arrests DNA replication by a mechanism that preserves basal dNTP pools, Protein Cell. J Biol Chem, vol.5279, issue.181, pp.750-60223, 2004. ,
Effects of Hydroxyurea and 1-beta-D-Arabinofuranosyl-cytosine on Deoxyribonucleotide Pools in Mouse Embryo Cells, European Journal of Biochemistry, vol.241, issue.1, pp.81-90, 1971. ,
DOI : 10.1016/0003-2697(70)90096-5
Deoxyribonucleoside triphosphate pools in synchronized and drug-inhibited L929 cells, Biochimica et Biophysica Acta (BBA) - Nucleic Acids and Protein Synthesis, vol.240, issue.4, pp.455-62, 1971. ,
DOI : 10.1016/0005-2787(71)90702-7
The role of deoxynucleoside triphosphate pools in the inhibition of DNA-excision repair and replication in human cells by hydroxyurea, Mutation Research/DNA Repair Reports, vol.131, issue.3-4, pp.3-4163, 1984. ,
DOI : 10.1016/0167-8817(84)90057-9
Cellular pharmacodynamics and plasma pharmacokinetics of parenterally infused hydroxyurea during a phase I clinical trial in chronic myelogenous leukemia., Journal of Clinical Oncology, vol.16, issue.7, pp.2321-2352, 1998. ,
DOI : 10.1200/JCO.1998.16.7.2321
Highly mutagenic and severely imbalanced dNTP pools can escape detection by the S-phase checkpoint, Tajmir-Riahi HA. A Comparative study of Fe(II) and, pp.3975-83, 2010. ,
DOI : 10.1093/nar/gkq128
Preferential localization of iron in the chromatin of Fe-enriched cells linked toDNA cleavage sites and control of carcinogenesis, J Cancer Sci Ther, issue.8, pp.2016213-2016218 ,
Metaphase chromosome structure: Evidence for a radial loop model, Cell, vol.17, issue.4, pp.849-58, 1979. ,
DOI : 10.1016/0092-8674(79)90325-8
Localization of Fe2+ at an RTGR sequence within a DNA duplex explains preferential cleavage by Fe2+ and H2O211Edited by M. F. Summers, Journal of Molecular Biology, vol.312, issue.5, pp.1089-101, 2001. ,
DOI : 10.1006/jmbi.2001.5010
-mediated Fenton Reactions Has Possible Biological Implications, Journal of Biological Chemistry, vol.266, issue.2, pp.962-71, 1999. ,
DOI : 10.1074/jbc.273.24.14683
Elevated transferrin saturation, health-related quality of life and telomere length Telomere length and elevated iron: the influence of phenotype and HFE genotype The influence of oxidative stress induced by iron on telomere length, Biometals. Am J Hematol. Kepinska M Environ Toxicol Pharmacol, vol.278840, issue.323, pp.135-41492, 2013. ,
Iron overload promotes Cyclin D1 expression and alters cell cycle in mouse hepatocytes, Journal of Hepatology, vol.44, issue.2, pp.391-400, 2006. ,
DOI : 10.1016/j.jhep.2005.07.033
Iron may induce both DNA synthesis and repair in rat hepatocytes stimulated by EGF/pyruvate Deugnier Y, Turlin B. Iron and hepatocellular carcinoma Preneoplastic significance of hepatic iron-free foci in genetic hemochromatosis: a study of 185 patients Hepatocyte iron loading capacity is associated with differentiation and repression of motility in the HepaRG cell line, J Hepatol. J Gastroenterol Hepatol. Hepatology. Genomics, vol.26161887, issue.371, pp.650-8491, 1993. ,
The role of iron in cell cycle progression and the proliferation of neoplastic cells, Biochimica et Biophysica Acta (BBA) - Reviews on Cancer, vol.1603, issue.1, pp.31-46, 2002. ,
DOI : 10.1016/S0304-419X(02)00068-9
The potential of iron chelators of the pyridoxal isonicotinoyl hydrazone class as effective antiproliferative agents, IV: The mechanisms involved in inhibiting cell-cycle progression Iron deprivation inhibits cyclin-dependent kinase activity and decreases cyclin D/CDK4 protein levels in asynchronous MDA-MB-453 human breast cancer cells, Blood. Exp Cell Res, vol.98229, issue.401, pp.842-5060, 1996. ,
Ferroptosis, a new form of cell death, and its relationships with tumourous diseases, Journal of Cellular and Molecular Medicine, vol.5, issue.4, pp.648-57, 2017. ,
DOI : 10.3389/fonc.2015.00131
Php4 Is a Key Player for Iron Economy in Meiotic and Sporulating Cells Key function for the CCAAT-binding factor Php4 to regulate gene expression in response to iron deficiency in fission yeast Transcripts of ceruloplasmin but not hepcidin, both major iron metabolism genes, exhibit a decreasing pattern along the portocentral axis of mouse liver, G3 (Bethesda). Eukaryot Cell. Biochim Biophys Acta, vol.671782, issue.4334, pp.3077-95493, 2008. ,
Aneuploidy assessed by DNA index influences the effect of iron status on plasma and/or supernatant cytokine levels and progression of cells through the cell cycle in a mouse model, Cytokine, vol.65, issue.2, pp.175-83, 2014. ,
DOI : 10.1016/j.cyto.2013.11.005
Pathways of Oxidative Damage, Annual Review of Microbiology, vol.57, issue.1, pp.395-418, 2003. ,
DOI : 10.1146/annurev.micro.57.030502.090938
Repair of iron-induced DNA oxidation by the flavonoid myricetin in primary rat hepatocyte cultures, Free Radical Biology and Medicine, vol.26, issue.11-12, pp.11-121457, 1999. ,
DOI : 10.1016/S0891-5849(99)00010-6
Mitochondrial DNA Damage in Iron Overload, Journal of Biological Chemistry, vol.121, issue.8, pp.4767-75, 2009. ,
DOI : 10.1016/j.dnarep.2008.03.012
Genome-wide analysis identifies a tumor suppressor role for aminoacylase 1 in iron-induced rat renal cell carcinoma, Carcinogenesis, vol.30, issue.1, pp.158-64, 2009. ,
DOI : 10.1093/carcin/bgn255
Hepatic Iron Overload and Hepatocellular Carcinoma, Liver Cancer, vol.3, issue.1, pp.31-40, 2014. ,
DOI : 10.1159/000343856
The role of genetic factors in patients with hepatocellular carcinoma and iron overload - a prospective series of 234 patients, Liver International, vol.115, issue.216-7, pp.746-54, 2016. ,
DOI : 10.1007/s00439-004-1166-y
Hepatocellular carcinoma as an emerging morbidity in the thalassemia syndromes: A comprehensive review. Cancer. 2016. 53 Cancer risk in patients with hereditary hemochromatosis and in their first-degree relatives Decreased cardiovascular and extrahepatic cancer-related mortality in treated patients with mild HFE hemochromatosis, SD. p53 mutations in british patients with hepatocellular carcinoma: clustering in genetic hemochromatosis, pp.1733-41682, 1999. ,
Increased p53 mutation load in nontumorous human liver of wilson disease and hemochromatosis: oxyradical overload diseases Sister-chromatid exchanges in beta-thalassaemic patients under conditions of in vivo and in vitro depletion of folic acid, Proc Natl Acad Sci U S A. Mutat Res, vol.97282, issue.58, pp.12770-5213, 1992. ,
Genotoxicity assessment in patients with thalassemia minor, Mutation Research/Genetic Toxicology and Environmental Mutagenesis, vol.744, issue.2 ,
DOI : 10.1016/j.mrgentox.2012.02.010
Beta-thalassaemia: increased chromosomal anomalies in lymphocyte cultures., Journal of Medical Genetics, vol.16, issue.1, pp.52-57, 1979. ,
DOI : 10.1136/jmg.16.1.52
Iron loading and oxidative stress in the Atm-/- mouse liver, AJP: Gastrointestinal and Liver Physiology, vol.300, issue.4, pp.554-60, 2011. ,
DOI : 10.1152/ajpgi.00486.2010
Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome Iron chelators reduce chromosomal breaks in ataxia-telangiectasia cells, Redox Biol. DNA Repair (Amst), vol.115, issue.6211, pp.375-831327, 2006. ,
Spontaneous and 2-nitropropane induced levels of 8-hydroxy-2'-deoxyguanosine in liver DNA of rats fed iron-deficient or manganese- and copper-deficient diets, Carcinogenesis, vol.14, issue.2, pp.265-273, 1993. ,
DOI : 10.1093/carcin/14.2.265
Iron deficiency and iron excess damage mitochondria and mitochondrial DNA in rats, Proceedings of the National Academy of Sciences, vol.49, issue.3 Suppl 2, pp.2264-2273, 2002. ,
DOI : 10.1136/gut.46.2.270
Influence of nutritional iron deficiency anemia on DNA stability and lipid peroxidation in rats, Nutrition, vol.24, issue.11-12, pp.11-121167, 2008. ,
DOI : 10.1016/j.nut.2008.05.012
Effect of Iron-Deficiency Anemia on Cognitive Skills and Neuromaturation in Infancy and Childhood, Food and Nutrition Bulletin, vol.63, issue.1, pp.104-114, 2003. ,
DOI : 10.1046/j.1471-4159.1994.63020709.x
Lymphocyte DNA damage and oxidative stress in patients with iron deficiency anemia Leukocyte DNA damage in children with iron deficiency anemia: effect of iron supplementation Genotoxicity assessment in iron deficiency anemia patients using sister chromatid exchanges and chromosomal aberrations assays Brissot P, Loreal O. Iron metabolism and related genetic diseases: A cleared land, keeping mysteries, Mutat Res. Eur J Pediatr. Mutat Res. J Hepatol, vol.60116975064, issue.702, pp.144-9951, 2006. ,
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis Phenotypic expression of a novel C282Y/R226G compound heterozygous state in HFE hemochromatosis: molecular dynamics and biochemical studies, Nature genetics. Blood Cells Mol Dis, vol.1352, issue.721, pp.399-40827, 1996. ,
Identification of new BMP6 pro-peptide mutations in patients with iron overload, American Journal of Hematology, vol.2, issue.6, pp.562-570, 2017. ,
DOI : 10.1136/bmj.2.5505.78
Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans Lack of the bone morphogenetic protein BMP6 induces massive iron overload, Gastroenterology. Nat Genet, vol.15041, issue.34, pp.672-83478, 2009. ,
Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis21-2. 77 The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22, Nat Genet. Nat Genet. Njajou OT Nature genetics, vol.332528, issue.783, pp.14-5213, 2000. ,
Autosomal-dominant hemochrom-atosis is associated with a mutation in the ferroportin (SLC11A3) gene, Journal of Clinical Investigation, vol.108, issue.4, pp.619-642, 2001. ,
DOI : 10.1172/JCI200113468
Aceruloplasminemia, Neuropathology, vol.29, issue.1, pp.83-90, 2015. ,
DOI : 10.1016/j.braindev.2007.01.001
Iron, hepcidin, and the metal connection Non-specific serum iron in thalassaemia: an abnormal serum iron fraction of potential toxicity Non-transferrin bound iron: a key role in iron overload and iron toxicity, Front Pharmacol. Br J Haematol. Biochim Biophys Acta, vol.5401820, issue.833, pp.128-82255, 1978. ,
Optimizing the diagnosis and the treatment of iron overload diseases, Expert Review of Gastroenterology & Hepatology, vol.364, issue.15, pp.359-70, 2016. ,
DOI : 10.1111/liv.12893
Sex and Acquired Cofactors Determine Phenotypes of Ferroportin Disease, Gastroenterology, vol.140, issue.4, pp.1199-207, 2011. ,
DOI : 10.1053/j.gastro.2010.12.049
URL : https://hal.archives-ouvertes.fr/inserm-00554693
A new case of human atransferrinemia with a previously undescribed mutation in the transferrin gene Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2) A novel N491S mutation in the human SLC11A2 gene impairs protein trafficking and in association with the G212V mutation leads to microcytic anemia and liver iron overload, Acta Haematol. Blood. Bardou-Jacquet E Blood Cells Mol Dis, vol.11810747, issue.884, pp.244-7349, 2006. ,
Aceruloplasminemia: an update. International review of neurobiology, pp.125-51, 2013. ,
Neurodegeneration with brain iron accumulation ??? Clinical syndromes and neuroimaging, Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, vol.1822, issue.3, pp.350-60, 2012. ,
DOI : 10.1016/j.bbadis.2011.06.016
A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease, Nat Genet. Nat Genet, vol.2828, issue.924, pp.345-9350, 2001. ,
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron, Nature Genetics, vol.5, issue.7, pp.752-756, 2006. ,
DOI : 10.1212/WNL.52.7.1472
Sideroblastic Anemia, Hematology/Oncology Clinics of North America, vol.28, issue.4, pp.653-70, 2014. ,
DOI : 10.1016/j.hoc.2014.04.008
SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes SF3B1-mutated myelodysplastic syndrome with ring sideroblasts harbors more severe iron overload and corresponding over-erythropoiesis Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA), 98. Heeney MM, Finberg KE. Iron-refractory iron deficiency anemia (IRIDA), pp.3173-868, 2008. ,
The role of TMPRSS6 polymorphisms in iron deficiency anemia partially responsive to oral iron treatment, American Journal of Hematology, vol.118, issue.4, pp.306-315, 2015. ,
DOI : 10.1182/blood-2011-06-364034
Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: a mutation in the ironresponsive element of ferritin L-subunit gene (the "Verona mutation"), Blood, vol.86, issue.11, pp.4050-4053, 1995. ,
Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract, Nature Genetics, vol.90, issue.4, pp.444-450, 1995. ,
DOI : 10.1038/ng0195-37
A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload, Haematologica, vol.94, issue.3, pp.335-344, 2009. ,
DOI : 10.3324/haematol.2008.000125
Targeted deletion of the mouse Mitoferrin1 gene: from anemia to protoporphyria, Blood, vol.117, issue.20, pp.5494-502, 2011. ,
DOI : 10.1182/blood-2010-11-319483
URL : https://hal.archives-ouvertes.fr/hal-01120681
Abnormal mitoferrin-1 expression in patients with erythropoietic protoporphyria, Experimental Hematology, vol.39, issue.7, pp.784-94, 2011. ,
DOI : 10.1016/j.exphem.2011.05.003
The Multicopper Ferroxidase Hephaestin Enhances Intestinal Iron Absorption in Mice, PLoS ONE, vol.140, issue.6, p.98792, 2014. ,
DOI : 10.1371/journal.pone.0098792.s003
Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility, Nature, vol.68, issue.7615, pp.205-214, 2016. ,
DOI : 10.1016/j.neuron.2010.10.006
Elucidating the Molecular Function of Human BOLA2 in GRX3-Dependent Anamorsin Maturation Pathway, Journal of the American Chemical Society, vol.137, issue.51, pp.16133-16176, 2015. ,
DOI : 10.1021/jacs.5b10592
Each Member of the Poly-r(C)-binding Protein 1 (PCBP) Family Exhibits Iron Chaperone Activity toward Ferritin, Journal of Biological Chemistry, vol.19, issue.24, pp.17791-802, 2013. ,
DOI : 10.1016/j.spen.2006.08.002
Ferroptosis: bug or feature?, Immunological Reviews, vol.23, issue.15, pp.150-157, 2017. ,
DOI : 10.1038/cdd.2015.126