Associated Papers
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
Iron overload due to SLC40A1 mutation of type 4 hereditary hemochromatosis.
Hu J et al.
Medical Molecular Morphology, 2023
Structural basis of ferroportin inhibition by minihepcidin PR73.
Wilbon AS et al.
Plos 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
Hirschsprung's disease presenting as intractable anemia: a report of two cases and review of the literature.
Sun X et al.
Bmc Pediatrics, 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
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
Type 4B hereditary hemochromatosis associated with a novel mutation in the SLC40A1 gene: A case report and a review of the literature.
Zhang W et al.
Medicine, 2017
Pathophysiological consequences and benefits of HFE mutations: 20 years of research.
Hollerer I et al.
Haematologica, 2017
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
A novel mutation in the SLC40A1 gene associated with reduced iron export in vitro.
Moreno-Carralero MI et al.
American Journal of Hematology, 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
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
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
Hereditary hemochromatosis due to resistance to hepcidin: high hepcidin concentrations in a family with C326S ferroportin mutation.
Sham RL et al.
Blood, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 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
Novel mutations of the ferroportin gene (SLC40A1): analysis of 56 consecutive patients with unexplained iron overload.
Pelucchi S et al.
Clinical Genetics, 2008
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
Hereditary iron overload: update on pathophysiology, diagnosis, and treatment.
Franchini M
American Journal of Hematology, 2006
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
Recent advances in hereditary hemochromatosis.
Franchini M et al.
Annals of Hematology, 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
Inherited iron loading: genetic testing in diagnosis and management.
Worwood M
Blood Reviews, 2005
Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family.
Rivard SR et al.
Haematologica, 2003
Ferroportin: lack of evidence for multimers.
Schimanski LM et al.
Blood Cells, Molecules & Diseases, 0