A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis

Autor: Marie-Laure Island, Anne-Marie Jouanolle, Annick Mosser, Yves Deugnier, Véronique David, Pierre Brissot, Olivier Loréal

Publikováno v: Haematologica, Vol 94, Iss 5 (2009)

Low levels of hepcidin are responsible for the development of iron overload in p.Cys282Tyr HFE related hemochromatosis. Every genetic factor lowering the hepcidin gene expression could contribute to a more severe phenotype in HFE hemochromatosis. Bas

Externí odkaz: https://doaj.org/article/f8619f8804e64d17b504859f4b42b893

Ferroportin Diseases: Functional Studies, a Link Between Genetic and Clinical Phenotype

Autor: Yves Deugnier, Martine Ropert, Patricia Leroyer, Lénaïck Détivaud, Caroline Le Lan, Annick Mosser, Véronique David, Pierre Brissot, Edouard Bardou-Jacquet, Olivier Loréal, Marie-Laure Island, Anne-Marie Jouanolle

Publikováno v: Human Mutation
Human Mutation, Wiley, 2013, 34 (11), pp.1529-36. ⟨10.1002/humu.22396⟩
Human Mutation, 2013, 34 (11), pp.1529-36. ⟨10.1002/humu.22396⟩

International audience; Ferroportin (FPN) mediates iron export from cells and this function is modulated by serum hepcidin. Mutations in the FPN gene (SLC40A1) lead to autosomal dominant iron overload diseases related either to loss or to gain of fun

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a465a469174c474fe8fc46c33c91277
https://doi.org/10.1002/humu.22396

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

Autor: Lénaïck Détivaud, Olivier Loréal, Eolia Brissot, Anne-Marie Jouanolle, Nadia Fatih, Pierre Brissot, Marie-Laure Island, Annick Mosser, Martine Ropert, Hervé Maisonneuve, Edouard Bardou-Jacquet

Publikováno v: Blood Cells, Molecules and Diseases
Blood Cells, Molecules and Diseases, 2011, 47 (4), pp.243-8. ⟨10.1016/j.bcmd.2011.07.004⟩
Blood Cells, Molecules and Diseases, Elsevier, 2011, 47 (4), pp.243-8. ⟨10.1016/j.bcmd.2011.07.004⟩

International audience; BACKGROUND: DMT1 is a transmembrane iron transporter involved in iron duodenal absorption and cellular iron uptake. Mutations in the human SLC11A2 gene coding DMT1 lead to microcytic anemia and hepatic iron overload, with unex

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::674f2f018d5c784d23072799219868a5
https://hal.science/hal-00739367

Molecular diagnosis of genetic iron-overload disorders

Autor: Pierre Brissot, Annick Mosser, Marie-Laure Island, Anne-Marie Jouanolle, Lénaïck Détivaud, Edouard Bardou-Jacquet, Olivier Loréal, Marie-Bérengère Troadec

Publikováno v: Expert Review of Molecular Diagnostics
Expert Review of Molecular Diagnostics, 2010, 10 (6), pp.755-63. ⟨10.1586/erm.10.55⟩
Expert Review of Molecular Diagnostics, Expert Reviews (formerly Future Drugs), 2010, 10 (6), pp.755-63. ⟨10.1586/erm.10.55⟩

International audience; Genetic iron overload has long been confined to the picture of classical hemochromatosis related to the HFE C282Y mutation (type 1 hemochromatosis). C282Y homozygosity affects approximately three people out of 1000 of the Cauc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebff8806211c142b051c71ac2a398a0c
https://doi.org/10.1586/erm.10.55

[Pathophysiology and genetics of classic HFE (type 1) hemochromatosis]

Autor: Olivier, Loréal, Martine, Ropert, Annick, Mosser, Valérie, Déhais, Yves, Deugnier, Véronique, David, Pierre, Brissot, Anne-Marie, Jouanolle

Publikováno v: Presse medicale (Paris, France : 1983). 36(9 Pt 2)

Hereditary type 1 HFE hemochromatosis is associated with homozygosity for the p.Cys282Tyr mutation of the HFE gene (C282Y mutation). The p.Cys282Tyr mutation of the HFE gene leads to an abnormal reduction in hepatic expression of hepcidin, a protein

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2a73915e3538bbf4d7f45f9ea010254a
https://pubmed.ncbi.nlm.nih.gov/17521857