Associated Papers
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
Type 4B hereditary hemochromatosis due to heterozygous p.D157A mutation in SLC40A1 complicated with hypopituitarism.
Honma Y et al.
Medical Molecular Morphology, 2021
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
A 10-year Follow-up Study of a Japanese Family with Ferroportin Disease A: Mild Iron Overload with Mild Hyperferritinemia Co-occurring with Hyperhepcidinemia May Be Benign.
Hayashi H et al.
Internal Medicine (tokyo, Japan), 2018
Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants.
Lv T et al.
Journal of Medical Genetics, 2018
Ferroportin disease: pathogenesis, diagnosis and treatment.
Pietrangelo A
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 male patient with ferroportin disease B and a female patient with iron overload similar to ferroportin disease B.
Yamashita T et al.
Clinical Journal of Gastroenterology, 2014
Clinicopathological study of Japanese patients with genetic iron overload syndromes.
Hattori A et al.
Pathology International, 2012
Two novel mutations in the SLC40A1 and HFE genes implicated in iron overload in a Spanish man.
Del-Castillo-Rueda A et al.
European Journal of Haematology, 2011
Measurement of serum hepcidin-25 levels as a potential test for diagnosing hemochromatosis and related disorders.
Kaneko Y et al.
Journal of Gastroenterology, 2010
A novel missense mutation c.470 A>C (p.D157A) in the SLC40A1 gene as a cause of ferroportin disease in a family with hyperferritinaemia.
Saja K et al.
British Journal of Haematology, 2010