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
Selection for somatic escape variants in SERPINA1 in the liver of patients with alpha-1 antitrypsin deficiency.
Brzozowska N et al.
Nature Genetics, 2025
HFE-Related Hemochromatosis May Be a Primary Kupffer Cell Disease.
Kouroumalis E et al.
Biomedicines, 2025
Hereditary haemochromatosis: Prevalence and characterization of the disease in a tertiary hospital in Aragon, Spain.
Abadía Molina C et al.
Medicina Clinica, 2024
The dual loss and gain of function of the FPN1 iron exporter results in the ferroportin disease phenotype.
Uguen K et al.
Hgg Advances, 2024
Insights into the role of glycerophospholipids on the iron export function of SLC40A1 and the molecular mechanisms of ferroportin disease.
Debbiche R et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024
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
Reduced iron export associated with hepcidin resistance can explain the iron overload spectrum in ferroportin disease.
Viveiros A et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2020
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
A case report of hereditary hemochromatosis caused by mutation of SLC40A1 gene.
Yin X et al.
Medicine, 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
A novel SLC40A1 p.Y333H mutation with gain of function of ferroportin: A recurrent cause of haemochromatosis in China.
Zhang W et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 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
Reply to: "SLC40A1-R178G or R178Q and ferroportin disease? A call for vigilance in mutation reporting".
Speletas M et al.
Journal of Hepatology, 2013
SLC40A1-R178G or R178Q and ferroportin disease? A call for vigilance in mutation reporting.
Wallace DF
Journal of Hepatology, 2013
Global sequencing approach for characterizing the molecular background of hereditary iron disorders.
Cunat S et al.
Clinical Chemistry, 2007
Hyperferritinemia and non-HFE hemochromatosis: differential diagnosis and workup.
Lommaert E et al.
Acta Gastro-enterologica Belgica, 0