Associated Papers
The landscape of hereditary haemochromatosis risk and diagnosis across the British Isles and Ireland.
Kerr SM et al.
Nature Communications, 2026
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
SLC40A1-related hemochromatosis associated with a p.Y333H mutation in mainland China: a pedigree report and literature review.
Li Y et al.
Bmc Medical Genomics, 2024
Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.
Li K et al.
Nucleic Acids Research, 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
Correlation of genotype and phenotype in 32 patients with hereditary hemochromatosis in China.
Wu L et al.
Orphanet Journal of Rare Diseases, 2021
Splicing analysis of SLC40A1 missense variations and contribution to hemochromatosis type 4 phenotypes.
Le Tertre M et al.
Blood Cells, Molecules & Diseases, 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
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
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
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
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
Effect of ferroportin polymorphism on iron homeostasis and infection.
Kasvosve I
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2013
Ferroportin disease: a systematic meta-analysis of clinical and molecular findings.
Mayr R et al.
Journal of Hepatology, 2010
Molecular diagnosis of genetic iron-overload disorders.
Brissot P et al.
Expert Review of Molecular Diagnostics, 2010
The molecular basis of hepcidin-resistant hereditary hemochromatosis.
Fernandes A et al.
Blood, 2009
Hereditary hemochromatosis due to resistance to hepcidin: high hepcidin concentrations in a family with C326S ferroportin mutation.
Sham RL et al.
Blood, 2009
HFE hemochromatosis and hepatic sarcoid.
Barton JC et al.
The American Journal of the Medical Sciences, 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
Phenotypic expression of ferroportin disease in a family with the N144H mutation.
Rosmorduc O et al.
Gastroenterologie Clinique Et Biologique, 2008
Wild-type and mutant ferroportins do not form oligomers in transfected cells.
Gonçalves AS et al.
The Biochemical Journal, 2006
Hereditary hemochromatosis: genetic complexity and new diagnostic approaches.
Swinkels DW et al.
Clinical Chemistry, 2006
The molecular genetics of haemochromatosis.
Le Gac G et al.
European Journal of Human Genetics : Ejhg, 2005
Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin.
Drakesmith H et al.
Blood, 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
Recent advances in understanding haemochromatosis: a transition state.
Robson KJ et al.
Journal of Medical Genetics, 2004
Autosomal dominant iron overload due to a novel mutation of ferroportin1 associated with parenchymal iron loading and cirrhosis.
Wallace DF et al.
Journal of Hepatology, 2004