Zobrazeno 1 - 10 of 80 pro vyhledávání: '"Anne Marie Jouanolle"'
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Akademický článek
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
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3
Akademický článek
A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload
Autor: Caroline Kannengiesser, Anne-Marie Jouanolle, Gilles Hetet, Annick Mosser, Françoise Muzeau, Dominique Henry, Edouard Bardou-Jacquet, Martine Mornet, Pierre Brissot, Yves Deugnier, Bernard Grandchamp, Carole Beaumont
Publikováno v: Haematologica, Vol 94, Iss 3 (2009)
Background Elevated serum ferritin levels are frequently encountered in clinical situations and once iron overload or inflammation has been ruled out, many cases remain unexplained. Genetic causes of hyperferritinemia associated to early cataract inc
Externí odkaz: https://doaj.org/article/06c64fc91f304069becefeb258335c2d
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4
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
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5
Rare HFE variants are the most frequent cause of hemochromatosis in non-c282y homozygous patients with hemochromatosis
Autor: Olivier Loréal, Edouard Bardou-Jacquet, Caroline Le Lan, Xavier Causse, Marie-Pascale Beaumont-Epinette, Yves Deugnier, Anne-Marie Jouanolle, Zeineb Ben Ali, Pierre Brissot, Véronique Loustaud-Ratti, Houda Hamdi-Rozé
Publikováno v: American Journal of Hematology
American Journal of Hematology, 2016, 91 (12), pp.1202--1205. ⟨10.1002/ajh.24535⟩
American Journal of Hematology, Wiley, 2016, 91 (12), pp.1202--1205. ⟨10.1002/ajh.24535⟩
International audience; p.Cys282Tyr (C282Y) homozygosity explains most cases of HFE-related hemochromatosis, but a significant number of patients presenting with typical type I hemochromatosis phenotype remain unexplained. We sought to describe the c
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6d03ef0ed42ff22b8d73957e2bf8efb
https://univ-rennes.hal.science/hal-01427007
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6
Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans
Autor: Raed Daher, Gérald Le Gac, Dimitri Tchernitchko, Thibaud Lefebvre, Hervé Puy, Caroline de Kerguenec, Pierre Brissot, A. M. Robreau, Claire Oudin, Zoubida Karim, Pierre Bedossa, Dominique Valla, Boualem Moulouel, Dounia Houamel, Anne-Marie Jouanolle, Laurent Gouya, Nicolas Ducrot, Carole Beaumont, Caroline Kannengiesser, Véronique Loustaud-Ratti, Edouard Bardou-Jacquet
Publikováno v: Gastroenterology
Gastroenterology, 2016, 150 (3), pp.672-683. ⟨10.1053/j.gastro.2015.10.049⟩
Gastroenterology, WB Saunders, 2016, 150 (3), pp.672-683. ⟨10.1053/j.gastro.2015.10.049⟩
Background & Aims Hereditary hemochromatosis is a heterogeneous group of genetic disorders characterized by parenchymal iron overload. It is caused by defective expression of liver hepcidin, the main regulator of iron homeostasis. Iron stimulates the
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d54d3d2ccc5c7983257eca7ed64d96b
https://univ-rennes.hal.science/hal-01231430/document
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10
Surcharges génétiques en fer
Autor: Edouard Bardou-Jacquet, O Loréal, Marianne Latournerie, Yves Deugnier, Anne-Marie Jouanolle, Pierre Brissot
Publikováno v: EMC - Traité de médecine AKOS. 6:1-8
AKOS (Traite de Medecine) - Epreuve corrigee par l'auteur. Disponible en ligne depuis le 16/05/2017
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d21abe02a15aaa6353d4d67fbe0d1e64
https://doi.org/10.1016/s1634-6939(11)54630-7
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