Genomes and Genes
- Recycling iron in normal and pathological statesCarole Beaumont
INSERM U773, Centre de recherche Biomedicale Bichat Beaujon, Université Paris Diderot Paris, UFR de Medecine Site Bichat, Paris, France
Semin Hematol 46:328-38. 2009..This review will focus particularly on the mechanisms involved in iron recycling by macrophages and summarize the pathological conditions perturbing this process...
- Iron refractory iron deficiency anemiaLuigia De Falco
CEINGE, Biotecnologie Avanzate, Naples, Italy
Haematologica 98:845-53. 2013....
- [Iron metabolism: State of the art]C Beaumont
INSERM U773, Universite Paris Diderot, site Bichat, 16, rue Henri Huchard, 75018 Paris, France
Rev Med Interne 34:17-25. 2013..The validation of hepcidin assays in a near future will allow identifying the patients most likely to benefit from intravenous iron therapy...
- Genetic study of variation in normal mouse iron homeostasis reveals ceruloplasmin as an HFE-hemochromatosis modifier geneLaurent Gouya
INSERM U773, Centre de Recherche Biomedicale Bichat Beaujon CRB3, Universite Paris 7 Denis Diderot, site Bichat, Paris, France
Gastroenterology 132:679-86. 2007..However, penetrance of this mutation is incomplete, suggesting that other genetic and environmental factors contribute to its differential biologic or clinical expression...
- Efficacy and toxicity of intravenous iron in a mouse model of critical care anemia*Nicholas Heming
INSERM U773, Univ Paris Diderot, Sorbonne Paris Cité, site Bichat, Paris, France
Crit Care Med 40:2141-8. 2012..The objective of this work was to determine the efficacy and toxicity of iron administration using a mouse model mimicking critical care anemia as well as a model of acute septicemia...
- A physiological model to study iron recycling in macrophagesConstance Delaby
Inserm U656, Fer et synthèse d hème, Genetique, Physiologie et Pathologie, Faculte de Medecine Xavier Bichat, 16, rue Henri Huchard, 75018 Paris, France
Exp Cell Res 310:43-53. 2005..However, phagocytosis of artificially-aged red blood cells seems to repress the proinflammatory response of macrophages...
- Hepcidin regulates intrarenal iron handling at the distal nephronBoualem Moulouel
1 INSERM U773, Centre de recherche Biomedicale Bichat Beaujon, Universite Paris Diderot, site Bichat, Paris, France 2 Université Paris Diderot, site Bichat, Paris, France
Kidney Int 84:756-66. 2013..Thus, kidneys exhibit a tissue-specific handling of iron that depends on the extra iron source. Hepcidin may control the expression of iron transporters to prevent renal iron overload. ..
- Erythropoietin stimulates spleen BMP4-dependent stress erythropoiesis and partially corrects anemia in a mouse model of generalized inflammationSarah Millot
INSERM U773, Centre de recherche Biomedicale Bichat Beaujon, Universite Paris Diderot, Paris, France
Blood 116:6072-81. 2010..It allows only partial recovery of anemia, probably because of peripheral destruction of mature red cells. It is not clear whether similar BMP4-dependent stress erythropoiesis can occur in human bone marrow after Epo injections...
- Phlebotomies or erythropoietin injections allow mobilization of iron stores in a mouse model mimicking intensive care anemiaSigismond Lasocki
INSERM U773, Centre de recherche Biomedicale Bichat Beaujon, Paris, France
Crit Care Med 36:2388-94. 2008..These two mechanisms have opposite effects on iron homeostasis, especially on the expression of the iron regulatory hormone hepcidin. We developed a mouse model mimicking the intensive care anemia to explore iron homeostasis...
- A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 geneBernard Grandchamp
Assistance Publique des Hopitaux de Paris, Hopital Bichat, Laboratoire de Biochimie hormonale et génétique, Paris, France
Blood 118:6660-6. 2011....
- Wild-type and mutant ferroportins do not form oligomers in transfected cellsAna Sofia Gonçalves
INSERM, U773, 16 rue Henri Huchard, 75018 Paris, France
Biochem J 396:265-75. 2006....
- Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activityFlavia Guillem
Universite Paris Diderot, Paris, France
Hum Mutat 33:1388-96. 2012..This simple test can be used to determine whether a sequence variation leading to an amino acid substitution is functionally relevant or not...
- Intestinal DMT1 cotransporter is down-regulated by hepcidin via proteasome internalization and degradationCarole Brasse-Lagnel
INSERM U773, Centre de Recherche Biomedicale Bichat Beaujon CRB3, Universite Paris Diderot, site Bichat, Paris, France
Gastroenterology 140:1261-1271.e1. 2011..We studied human polarized intestinal (Caco-2/TC7) cells and mouse duodenal segments, ex vivo, to investigate the molecular mechanisms by which hepcidin down-regulates intestinal transepithelial iron transport...
- Protoporphyrin retention in hepatocytes and Kupffer cells prevents sclerosing cholangitis in erythropoietic protoporphyria mouse modelSaid Lyoumi
INSERM U773, Centre de Recherche Biomedicale Bichat Beaujon CRB3, Universite Paris Diderot, site Bichat, Centre de Référence des Maladies Inflammatoires des Voies Biliaires, service d Hépatologie Gastroentérologie, Hopital Saint Antoine, Paris, France
Gastroenterology 141:1509-19, 1519.e1-3. 2011..We characterized protoporphyrin-IX (PPIX)-linked hepatobiliary disease in BALB/c and C57BL/6 (Fechm1Pas) mice with mutations in ferrochelatase as models for EPP...
- Hepcidin as a Major Component of Renal Antibacterial Defenses against Uropathogenic Escherichia coliDounia Houamel
National Institute of Health and Medical Research INSERM U1149, Research Centre on inflammation, Paris, France Paris Diderot University, Sorbonne Paris Cité, Paris, France Laboratory of Excellence, Gr Ex, Paris, France
J Am Soc Nephrol 27:835-46. 2016..In conclusion, we provide new mechanisms by which hepcidin contributes to renal host defense and suggest that targeting hepcidin offers a strategy to prevent bacterial invasion. ..
- Diagnostic accuracy of serum hepcidin for iron deficiency in critically ill patients with anemiaSigismond Lasocki
Service de Réanimation Chirugicale, département d anesthésie réanimation chirurgicale, AP HP, CHU Bichat Claude Bernard, université Paris 7 Diderot, 46, rue Henri Huchard, 75877, Paris Cedex 18, France
Intensive Care Med 36:1044-8. 2010..We conducted a prospective observational study to determine the cutoff value and diagnostic accuracy of hepcidin levels for detecting ID in critically ill anemic patients...
- [Serum hepcidin assay in 2011: where do we stand?]Constance Delaby
INSERM U773, Centre de Recherche Biomedicale Bichat Beaujon CRB3, Universite Paris Diderot Paris 7, UFR de Medecine Site Bichat, Paris, France
Ann Biol Clin (Paris) 70:377-86. 2012..This article focuses on the molecular mechanisms of hepcidin regulation and reviews the various methods of hepcidin quantification, describing the advantages and limitations of each one of them...
- Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase-deficient miceSaid Lyoumi
INSERM U773, Paris, France
Blood 109:811-8. 2007....
- Iron metabolism in patients with anorexia nervosa: elevated serum hepcidin concentrations in the absence of inflammationSolesne Papillard-Marechal
AP HP, Service de Pediatrie, Hopital Bichat, Paris, France
Am J Clin Nutr 95:548-54. 2012..Only a few studies based on small cohorts have been carried out on iron status in anorexia nervosa (AN) patients...
- Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in HumansRaed Daher
INSERM UMR1149, Centre de Recherche sur l Inflammation, Paris, France Université Paris Diderot, site Bichat, Sorbonne Paris Cité, Paris, France Laboratory of Excellence, Gr Ex, Paris, France
Gastroenterology 150:672-683.e4. 2016..Although several genetic factors have been found to cause late-onset hemochromatosis, many patients have unexplained signs of iron overload. We investigated BMP6 function in these individuals...
- Transferrin receptor 1 mRNA is downregulated in placenta of hepcidin transgenic embryosMarie Elise Martin
INSERM U409, Faculte de Medecine X Bichat, Institut Federatif de Recherche 02, 16 rue Henri Huchard, 75018 Paris, France
FEBS Lett 574:187-91. 2004..Taken together, these results suggest that hepcidin action on placenta is mostly through transcriptional downregulation of the iron uptake machinery...
- A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overloadCaroline Kannengiesser
AP HP, Service de Génétique et Biochimie hormonale, Hopital Bichat Claude Bernard, Paris, France
Haematologica 94:335-9. 2009..Genetic causes of hyperferritinemia associated to early cataract include mutations in the iron responsive element in the 5' untranslated region of the L ferritin mRNA, responsible for the hereditary hyperferritinemia cataract syndrome...
- Presence of the iron exporter ferroportin at the plasma membrane of macrophages is enhanced by iron loading and down-regulated by hepcidinConstance Delaby
Institut National de la Santé et de la Recherche Médicale INSERM U656, Fer et synthèse d hème, Genetique, Physiologie et Pathologie, Faculte de Medecine Xavier Bichat, Paris, France
Blood 106:3979-84. 2005..These data are consistent with a direct iron export by ferroportin through the plasma membrane of macrophages and strongly support an efficient posttranscriptional down-regulation of ferroportin by hepcidin in these cells...
- Monoclonal immunoglobulin with antitransferrin activity: A rare cause of hypersideremia with increased transferrin saturationMarie Alexandra Alyanakian
Université Paris 5 René Descartes Assistance Publique Hôpitaux de Paris AP HP, Laboratoire d Immunologie, Hopital Necker, Paris, France
Blood 109:359-61. 2007..The antitransferrin activity of monoclonal antibody should be added to the list of situations accounting for elevated serum iron with elevated transferrin saturation...
- Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiencyFlavia Guillem
Assistance publique des Hôpitaux de Paris APHP, Laboratoire de Génétique et Biochimie Hormonale, Hopital Bichat, Paris, France
Blood 112:2089-91. 2008....
- Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemiaCaroline Kannengiesser
AP HP, Service de Biochimie Génétique et Hormonale, Hopital Bichat, Paris, INSERM, Centre de recherche Biomedicale Bichat Beaujon, Universite Paris Diderot, France
Haematologica 96:808-13. 2011..Further evaluation of the importance of this gene was required to estimate the proportion of patients affected and to gain further insight into the range and types of variations involved...
- Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overloadCarole Beaumont
INSERM U773, Centre de Recherche Biomedicale Bichat Beaujon CRB3, BP 416, 16 rue Henri Huchard, F 75018 Paris, France
Blood 107:4168-70. 2006....
- Light-induced retinal degeneration correlates with changes in iron metabolism gene expression, ferritin level, and agingEmilie Picard
Institut National de la Sante et de la Recherche Medicale, U872, Paris, France
Invest Ophthalmol Vis Sci 52:1261-74. 2011..Retinal degeneration is associated with iron accumulation in several rodent models in which iron-regulating proteins are impaired. Oxidative stress is catalyzed by unbound iron...
- Anemia after late introduction of sirolimus may correlate with biochemical evidence of a chronic inflammatory stateOlivier Thaunat
Department of Renal Transplantation, Hopital Necker Enfants Malades, Paris, France
Transplantation 80:1212-9. 2005..The responsibility of sirolimus (SRL) for postrenal transplant anemia has never been proven, because SRL is usually combined with myelotoxic drugs, and because of the high incidence of anemia in the posttransplant period...
- Ferroportin in erythroid cells: a protective mechanism?Carole Beaumont
Inserm U656, Faculte X Bichat, Paris, France
Haematologica 90:1585. 2005
- [Molecular mechanisms of iron homeostasis]Carole Beaumont
INSERM U 409, Faculte de Medecine Xavier Bichat, BP 416, 16, rue Henri Huchard, 75870 Paris 18, France
Med Sci (Paris) 20:68-72. 2004..These results open new therapeutic perspectives, especially with the possibility to use hepcidin or antagonists for the treatment of iron overload disorders...
- Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutationsSarah Ducamp
INSERM, Centre de recherche Biomedicale Bichat Beaujon, Paris, France
Hum Mutat 32:590-7. 2011..Although most amino acid substitutions result in a clearly decreased enzymatic activity in vitro, a few mutations have a more subtle effect on the protein that is only revealed by in vitro tests under specific conditions...
- Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyriaLaurent Gouya
INSERM Unite 656, Faculte de Medecine Xavier Bichat, Universite Paris VII, Paris, France
Am J Hum Genet 78:2-14. 2006....
- A neutralizing monoclonal antibody (mAb A24) directed against the transferrin receptor induces apoptosis of tumor T lymphocytes from ATL patientsIvan C Moura
Institut National de la Santé et de la Recherche Médicale INSERM E 0225, Faculte de Medecine Xavier Bichat, Paris, France
Blood 103:1838-45. 2004..Therefore efficient therapeutic tools to treat acute forms of ATL might be derived from A24...
- The gene encoding the iron regulatory peptide hepcidin is regulated by anemia, hypoxia, and inflammationGael Nicolas
Département de génétique, Developpement et Pathologie Moleculaire, Institut Cochin, INSERM, Centre National de la Recherche Scientifique, et Université René Descartes, Faculté de Médecine Cochin Port Royal, Paris, France
J Clin Invest 110:1037-44. 2002....