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
Diagnosis and Management of Non-HFE Hemochromatosis, Ferroportin Disease, and Rare Hereditary Iron-Loading Disorders.
Pietrangelo A
Advances in Experimental Medicine and Biology, 2025
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 small molecule redistributes iron in ferroportin-deficient mice and patient-derived primary macrophages.
Ekaputri S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Assessment of iron overload in a cohort of Sri Lankan patients with transfusion dependent beta thalassaemia and its correlation with pathogenic variants in HBB, HFE, SLC40A1, and TFR2 genes.
Dissanayake R et al.
Bmc Pediatrics, 2022
The novel SLC40A1 (T419I) variant results in a loss-of-function phenotype and may provide insights into the mechanism of large granular lymphocytic leukemia and pure red cell aplasia.
Wu H et al.
Blood Science (baltimore, Md.), 2022
Appropriate Clinical Genetic Testing of Hemochromatosis Type 2-4, Including Ferroportin Disease.
Kowdley DS et al.
The Application of Clinical Genetics, 2021
Hirschsprung's disease presenting as intractable anemia: a report of two cases and review of the literature.
Sun X et al.
Bmc Pediatrics, 2020
Genetic iron overload disorders.
Corradini E et al.
Molecular Aspects of Medicine, 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
Evidence for dimerization of ferroportin in a human hepatic cell line using proximity ligation assays.
Rishi G et al.
Bioscience Reports, 2020
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism.
Ka C et al.
Haematologica, 2018
The Effects of HFE Polymorphisms on Biochemical Parameters of Iron Status in Arab Beta-Thalassemia Patients.
AlFadhli S et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2017
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
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
A novel mutation in the SLC40A1 gene associated with reduced iron export in vitro.
Moreno-Carralero MI et al.
American Journal of Hematology, 2014
Raised serum ferritin concentration in hereditary hyperferritinemia cataract syndrome is not a marker for iron overload.
Yin D et al.
Hepatology (baltimore, Md.), 2014
Genome-wide association study identifies variants in PMS1 associated with serum ferritin in a Chinese population.
Liao M et al.
Plos One, 2014
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
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
Iron storage disease in Asia-Pacific populations: the importance of non-HFE mutations.
McDonald CJ et al.
Journal of Gastroenterology and Hepatology, 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
Identification of mutations in SLC40A1 that affect ferroportin function and phenotype of human ferroportin iron overload.
Mayr R et al.
Gastroenterology, 2011
Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients.
Santos PC et al.
Blood Cells, Molecules & Diseases, 2011
G80S-linked ferroportin disease: classical ferroportin disease in an Asian family and reclassification of the mutant as iron transport defective.
McDonald CJ et al.
Journal of Hepatology, 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
Clinical presentation and molecular pathophysiology of autosomal dominant hemochromatosis caused by a novel ferroportin mutation.
Griffiths WJ et al.
Hepatology (baltimore, Md.), 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
Genetic mechanisms and modifying factors in hereditary hemochromatosis.
Weiss G
Nature Reviews. Gastroenterology & Hepatology, 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
The molecular basis of hepcidin-resistant hereditary hemochromatosis.
Fernandes A et al.
Blood, 2009
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