Associated Papers
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
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
Ferroportin disease mutations influence manganese accumulation and cytotoxicity.
Choi EK et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 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
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
Iron storage disease in Asia-Pacific populations: the importance of non-HFE mutations.
McDonald CJ et al.
Journal of Gastroenterology and Hepatology, 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
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
A novel mutation in ferroportin implicated in iron overload.
Wallace DF et al.
Journal of Hepatology, 2007