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
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
Long-term phlebotomy successfully alleviated hepatic iron accumulation in a ferroportin disease patient with a mutation in SLC40A1: a case report.
Nishina S et al.
Bmc Gastroenterology, 2021
[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
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 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
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
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
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
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
Identification of mutations in SLC40A1 that affect ferroportin function and phenotype of human ferroportin iron overload.
Mayr R et al.
Gastroenterology, 2011
A Novel Phenotype of a Hereditary Hemochromatosis Type 4 with Ferroportin-1 Mutation, Presenting with Juvenile Cataracts.
Yamakawa N et al.
Internal Medicine (tokyo, Japan), 0