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
The novel SLC40A1 (T419I) variant results in a loss-of-function phenotype and may provide insights into the mechanism of large granular lymphocytic leukemia and pure red cell aplasia.
Wu H et al.
Blood Science (baltimore, Md.), 2022
[A case of ferroportin disease with phenotype A gene mutation in SCL40A1 resembling phenotype B manifestation influenced by alcohol consumption].
Matsuoka N et al.
Nihon Shokakibyo Gakkai Zasshi = the Japanese Journal of Gastro-enterology, 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
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: 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
Structure-function analysis of the human ferroportin iron exporter (SLC40A1): effect of hemochromatosis type 4 disease mutations and identification of critical residues.
Le Gac G et al.
Human Mutation, 2013
Iron storage disease in Asia-Pacific populations: the importance of non-HFE mutations.
McDonald CJ et al.
Journal of Gastroenterology and Hepatology, 2013
Effect of ferroportin polymorphism on iron homeostasis and infection.
Kasvosve I
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2013
Molecular diagnostic and pathogenesis of hereditary hemochromatosis.
Santos PCJL et al.
International Journal of Molecular Sciences, 2012
Non-HFE hemochromatosis.
Santos PC et al.
Revista Brasileira De Hematologia E Hemoterapia, 2012
Ferroportin disease: a systematic meta-analysis of clinical and molecular findings.
Mayr R et al.
Journal of Hepatology, 2010
Molecular diagnosis of genetic iron-overload disorders.
Brissot P et al.
Expert Review of Molecular Diagnostics, 2010
Clinical presentation and molecular pathophysiology of autosomal dominant hemochromatosis caused by a novel ferroportin mutation.
Griffiths WJ et al.
Hepatology (baltimore, Md.), 2010
Hereditary hemochromatosis due to resistance to hepcidin: high hepcidin concentrations in a family with C326S ferroportin mutation.
Sham RL et al.
Blood, 2009
Investigation of the biophysical and cell biological properties of ferroportin, a multipass integral membrane protein iron exporter.
Rice AE et al.
Journal of Molecular Biology, 2009
Phenotypic expression of ferroportin disease in a family with the N144H mutation.
Rosmorduc O et al.
Gastroenterologie Clinique Et Biologique, 2008
Global sequencing approach for characterizing the molecular background of hereditary iron disorders.
Cunat S et al.
Clinical Chemistry, 2007
Wild-type and mutant ferroportins do not form oligomers in transfected cells.
Gonçalves AS et al.
The Biochemical Journal, 2006
Hereditary hemochromatosis: genetic complexity and new diagnostic approaches.
Swinkels DW et al.
Clinical Chemistry, 2006
Gene symbol: SLC40A1. Disease: primary iron overload.
Zaahl MG et al.
Human Genetics, 2005
The molecular genetics of haemochromatosis.
Le Gac G et al.
European Journal of Human Genetics : Ejhg, 2005
A Japanese family with ferroportin disease caused by a novel mutation of SLC40A1 gene: hyperferritinemia associated with a relatively low transferrin saturation of iron.
Koyama C et al.
Internal Medicine (tokyo, Japan), 2005
Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin.
Drakesmith H et al.
Blood, 2005
The molecular basis of ferroportin-linked hemochromatosis.
De Domenico I et al.
Proceedings of the National Academy of Sciences of the United States of America, 2005
In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations.
Schimanski LM et al.
Blood, 2005
[Molecular basis in hereditary haemochromatosis].
Cadet E et al.
La Revue De Medecine Interne, 2005
Gene symbol: SLC40A1. Disease: Primary iron overload.
Zaahl MG et al.
Human Genetics, 2005
Hemochromatosis with mutation of the ferroportin 1 (IREG1) gene.
Liu W et al.
Internal Medicine (tokyo, Japan), 2005
Inherited iron loading: genetic testing in diagnosis and management.
Worwood M
Blood Reviews, 2005
Non-HFE hemochromatosis: genetics, pathogenesis, and clinical management.
Nelson JE et al.
Current Gastroenterology Reports, 2005
Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload.
Zaahl MG et al.
Human Genetics, 2004
The SLC40 basolateral iron transporter family (IREG1/ferroportin/MTP1).
McKie AT et al.
Pflugers Archiv : European Journal of Physiology, 2004
Of mice and men: genetic determinants of iron status.
McGregor J et al.
The Proceedings of the Nutrition Society, 2004
Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload.
Jouanolle AM et al.
Journal of Hepatology, 2003
Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features.
Sham RL et al.
Blood Cells, Molecules & Diseases, 0
SLC40A1 Q248H allele frequencies and Q248H-associated risk of non-HFE iron overload in persons of sub-Saharan African descent.
Barton JC et al.
Blood Cells, Molecules & Diseases, 0
Ferroportin: lack of evidence for multimers.
Schimanski LM et al.
Blood Cells, Molecules & Diseases, 0