Výsledky vyhledávání - "Anne Marie Jouanolle"

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

Zobrazit plný text záznamu

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

Zobrazit plný text záznamu

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

Zobrazit plný text záznamu

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

Zobrazit plný text záznamu

Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans

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

Zobrazit plný text záznamu

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

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání