Associated Papers
The landscape of hereditary haemochromatosis risk and diagnosis across the British Isles and Ireland.
Kerr SM et al.
Nature Communications, 2026
Identification of New Key Players for Ferrous Iron Export in the Asymmetric Inner Gate of Human Ferroportin 1.
Le Tertre M et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025
The Spectra of Disease-Causing Mutations in the Ferroportin 1 (SLC40A1) Encoding Gene and Related Iron Overload Phenotypes (Hemochromatosis Type 4 and Ferroportin Disease).
Uguen K et al.
Human Mutation, 2023
A simple clinical score to promote and enhance ferroportin disease screening.
Landemaine A et al.
Journal of Hepatology, 2022
Functional characterization of a novel SLC40A1 Arg88Ile mutation in a kindred with familial iron overload treated by phlebotomy.
Womack J et al.
Blood Cells, Molecules & Diseases, 2021
Molecular model of the ferroportin intracellular gate and implications for the human iron transport cycle and hemochromatosis type 4A.
Guellec J et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019
Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features.
Vlasveld LT et al.
Pharmaceuticals (basel, Switzerland), 2019
Ferroportin disease mutations influence manganese accumulation and cytotoxicity.
Choi EK et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019
The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism.
Ka C et al.
Haematologica, 2018
Ferroportin disease: pathogenesis, diagnosis and treatment.
Pietrangelo A
Haematologica, 2017
Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.
Callebaut I et al.
Human Molecular Genetics, 2014
Ferroportin diseases: functional studies, a link between genetic and clinical phenotype.
Détivaud L et al.
Human Mutation, 2013
Ferroportin disease: a systematic meta-analysis of clinical and molecular findings.
Mayr R et al.
Journal of Hepatology, 2010
Global sequencing approach for characterizing the molecular background of hereditary iron disorders.
Cunat S et al.
Clinical Chemistry, 2007
A Novel Phenotype of a Hereditary Hemochromatosis Type 4 with Ferroportin-1 Mutation, Presenting with Juvenile Cataracts.
Yamakawa N et al.
Internal Medicine (tokyo, Japan), 0