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: 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
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
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
Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients.
Santos PC et al.
Blood Cells, Molecules & Diseases, 2011
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
Ferroportin disease: a systematic meta-analysis of clinical and molecular findings.
Mayr R et al.
Journal of Hepatology, 2010
Human mutation D157G in ferroportin leads to hepcidin-independent binding of Jak2 and ferroportin down-regulation.
De Domenico I et al.
Blood, 2010
A case report of spontaneous mutation (C33>U) in the iron-responsive element of L-ferritin causing hyperferritinemia-cataract syndrome.
Cao W et al.
Blood Cells, Molecules & Diseases, 2010
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
Molecular and clinical correlates in iron overload associated with mutations in ferroportin.
De Domenico I et al.
Haematologica, 2006
Wild-type and mutant ferroportins do not form oligomers in transfected cells.
Gonçalves AS et al.
The Biochemical Journal, 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
The molecular basis of ferroportin-linked hemochromatosis.
De Domenico I et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
Non-HFE hemochromatosis: genetics, pathogenesis, and clinical management.
Nelson JE et al.
Current Gastroenterology Reports, 2005
Of mice and men: genetic determinants of iron status.
McGregor J et al.
The Proceedings of the Nutrition Society, 2004
Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations.
Hetet G et al.
Blood, 2003
Hematologically important mutations: iron storage diseases.
Beutler L et al.
Blood Cells, Molecules & Diseases, 0
Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features.
Sham RL et al.
Blood Cells, Molecules & Diseases, 0
Functional consequences of ferroportin 1 mutations.
Liu XB et al.
Blood Cells, Molecules & Diseases, 0
A novel ferroportin mutation in a Canadian family with autosomal dominant hemochromatosis.
Morris TJ et al.
Blood Cells, Molecules & Diseases, 0