Associated Papers
The landscape of hereditary haemochromatosis risk and diagnosis across the British Isles and Ireland.
Kerr SM et al.
Nature Communications, 2026
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
SLC40A1-related hemochromatosis associated with a p.Y333H mutation in mainland China: a pedigree report and literature review.
Li Y et al.
Bmc Medical Genomics, 2024
Protective Role for Smooth Muscle Cell Hepcidin in Abdominal Aortic Aneurysm.
Loick P et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2023
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
Iron chelators reverse organ damage in type 4B hereditary hemochromatosis: Case reports.
Wu LY et al.
Medicine, 2021
Appropriate Clinical Genetic Testing of Hemochromatosis Type 2-4, Including Ferroportin Disease.
Kowdley DS et al.
The Application of Clinical Genetics, 2021
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
Evidence for dimerization of ferroportin in a human hepatic cell line using proximity ligation assays.
Rishi G et al.
Bioscience Reports, 2020
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 Caused by a Heterozygous Variant p.Cys326Phe in the SLC40A1 Gene and the Efficacy of Therapeutic Phlebotomy in Children.
Shimura M et al.
Journal of Pediatric Hematology/oncology, 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
Structure-function analysis of ferroportin defines the binding site and an alternative mechanism of action of hepcidin.
Aschemeyer S et al.
Blood, 2018
Ferroportin disease: pathogenesis, diagnosis and treatment.
Pietrangelo A
Haematologica, 2017
The dynamics of hepcidin-ferroportin internalization and consequences of a novel ferroportin disease mutation.
Wallace DF et al.
American Journal of Hematology, 2017
Human macrophage ferroportin biology and the basis for the ferroportin disease.
Sabelli M et al.
Hepatology (baltimore, Md.), 2017
An essential cell-autonomous role for hepcidin in cardiac iron homeostasis.
Lakhal-Littleton S et al.
Elife, 2016
Novel gain of function mutation in the SLC40A1 gene associated with hereditary haemochromatosis type 4.
Chen SR et al.
Internal Medicine Journal, 2015
Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.
Callebaut I et al.
Human Molecular Genetics, 2014
Impact of D181V and A69T on the function of ferroportin as an iron export pump and hepcidin receptor.
Praschberger R et al.
Biochimica Et Biophysica Acta, 2014
Ferroportin-related haemochromatosis associated with novel Y64H mutation of the SCL40A1 gene.
Raszeja-Wyszomirska J et al.
Przeglad Gastroenterologiczny, 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
Reduced sensitivity of the ferroportin Q248H mutant to physiological concentrations of hepcidin.
Nekhai S et al.
Haematologica, 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
Identification of mutations in SLC40A1 that affect ferroportin function and phenotype of human ferroportin iron overload.
Mayr R et al.
Gastroenterology, 2011
Ferroportin disease: a systematic meta-analysis of clinical and molecular findings.
Mayr R et al.
Journal of Hepatology, 2010
Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment.
Pietrangelo A
Gastroenterology, 2010
Clinical presentation and molecular pathophysiology of autosomal dominant hemochromatosis caused by a novel ferroportin mutation.
Griffiths WJ et al.
Hepatology (baltimore, Md.), 2010
Functional analysis and theoretical modeling of ferroportin reveals clustering of mutations according to phenotype.
Wallace DF et al.
American Journal of Physiology. Cell Physiology, 2010
A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin-associated iron overload diseases.
Létocart E et al.
British Journal of Haematology, 2009
The molecular basis of hepcidin-resistant hereditary hemochromatosis.
Fernandes A 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
Rare types of genetic hemochromatosis.
Camaschella C et al.
Acta Haematologica, 2009
Phenotypic expression of ferroportin disease in a family with the N144H mutation.
Rosmorduc O et al.
Gastroenterologie Clinique Et Biologique, 2008
[Hepcidin--the discovery of a small protein with a pivotal role in iron homeostasis].
Sela BA
Harefuah, 2008