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
39039793 (PubMed )
Supplement: mmc2.pdf
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
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
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
Structure-function analysis of ferroportin defines the binding site and an alternative mechanism of action of hepcidin.
Aschemeyer S et al.
Blood, 2018
Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis.
Majore S et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2018
Ferroportin disease: pathogenesis, diagnosis and treatment.
Pietrangelo A
Haematologica, 2017
Human macrophage ferroportin biology and the basis for the ferroportin disease.
Sabelli M et al.
Hepatology (baltimore, Md.), 2017
Detection of a rare mutation in the ferroportin gene through targeted next generation sequencing.
Ferbo L et al.
Blood Transfusion = Trasfusione Del Sangue, 2016
Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload.
Badar S et al.
American Journal of Hematology, 2016
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
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