Associated Papers
HFE hemochromatosis in African Americans: Prevalence estimates of iron overload and iron overload-related disease.
Barton JC et al.
The American Journal of the Medical Sciences, 2023
Genetic Diagnosis in Hereditary Hemochromatosis: Discovering and Understanding the Biological Relevance of Variants.
Baas FS et al.
Clinical Chemistry, 2021
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 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
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
The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data.
Wallace DF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Ferroportin diseases: functional studies, a link between genetic and clinical phenotype.
Détivaud L et al.
Human Mutation, 2013
Reduced sensitivity of the ferroportin Q248H mutant to physiological concentrations of hepcidin.
Nekhai S et al.
Haematologica, 2013
Hepcidin-induced endocytosis of ferroportin is dependent on ferroportin ubiquitination.
Qiao B et al.
Cell Metabolism, 2012
Mild iron overload in an African American man with SLC40A1 D270V.
Lee PL et al.
Acta Haematologica, 2012
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
Gene symbol: SLC40A1. Disease: primary iron overload.
Zaahl MG et al.
Human Genetics, 2005
The molecular genetics of haemochromatosis.
Le Gac G et al.
European Journal of Human Genetics : Ejhg, 2005
Gene symbol: SLC40A1. Disease: Primary iron overload.
Zaahl MG et al.
Human Genetics, 2005
Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload.
Zaahl MG et al.
Human Genetics, 2004
Recent advances in understanding haemochromatosis: a transition state.
Robson KJ et al.
Journal of Medical Genetics, 2004
Analysis of SLC40A1 gene at the mRNA level reveals rapidly the causative mutations in patients with hereditary hemochromatosis type IV.
Speletas M et al.
Blood Cells, Molecules & Diseases, 0