Associated Papers
The landscape of hereditary haemochromatosis risk and diagnosis across the British Isles and Ireland.
Kerr SM et al.
Nature Communications, 2026
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
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
Insights into the role of glycerophospholipids on the iron export function of SLC40A1 and the molecular mechanisms of ferroportin disease.
Debbiche R et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024
HFE and Non-HFE Hereditary Hemochromatosis Based on Screening of 854 Individuals: 12 Years of an Iranian Experience.
Zarifian Yeganeh R et al.
Genetic Testing and Molecular Biomarkers, 2024
Primary Non-HFE Hemochromatosis: A Review.
Turshudzhyan A et al.
Journal of Clinical and Translational Hepatology, 2023
DENND3 p.L708V activating variant is involved in the pathogenesis of hereditary hemochromatosis via the RAB12/TFR2 signaling pathway.
Li Y et al.
Hepatology International, 2023
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 simple clinical score to promote and enhance ferroportin disease screening.
Landemaine A et al.
Journal of Hepatology, 2022
Ethnic Differences in Iron Status.
Kang W et al.
Advances in Nutrition (bethesda, Md.), 2021
Correlation of genotype and phenotype in 32 patients with hereditary hemochromatosis in China.
Wu L et al.
Orphanet Journal of Rare Diseases, 2021
Insights into the Role of the Discontinuous TM7 Helix of Human Ferroportin through the Prism of the Asp325 Residue.
Le Tertre M et al.
International Journal of Molecular Sciences, 2021
Appropriate Clinical Genetic Testing of Hemochromatosis Type 2-4, Including Ferroportin Disease.
Kowdley DS et al.
The Application of Clinical Genetics, 2021
Evidence for dimerization of ferroportin in a human hepatic cell line using proximity ligation assays.
Rishi G et al.
Bioscience Reports, 2020
A case report of hereditary hemochromatosis caused by mutation of SLC40A1 gene.
Yin X et al.
Medicine, 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
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 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
Classical and intermediate monocytes scavenge non-transferrin-bound iron and damaged erythrocytes.
Haschka D et al.
Jci Insight, 2019
[Analysis of HFE and Non-HFE Mutations in a Tibet Cohort with Iron Overload].
Sun SY et al.
Zhongguo Shi Yan Xue Ye Xue Za Zhi, 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
The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism.
Ka C et al.
Haematologica, 2018
Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants.
Lv T et al.
Journal of Medical Genetics, 2018
Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis.
Majore S et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2018
Ferroportin disease: pathogenesis, diagnosis and treatment.
Pietrangelo A
Haematologica, 2017
The dynamics of hepcidin-ferroportin internalization and consequences of a novel ferroportin disease mutation.
Wallace DF et al.
American Journal of Hematology, 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
HFE gene mutation is a risk factor for tissue iron accumulation in hemodialysis patients.
Turkmen E et al.
Hemodialysis International. International Symposium on Home Hemodialysis, 2017
Human macrophage ferroportin biology and the basis for the ferroportin disease.
Sabelli M et al.
Hepatology (baltimore, Md.), 2017
Iron overload patients with unknown etiology from national survey in Japan.
Ikuta K et al.
International Journal of Hematology, 2017
Detection of a rare mutation in the ferroportin gene through targeted next generation sequencing.
Ferbo L et al.
Blood Transfusion = Trasfusione Del Sangue, 2016
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
Analysis of HFE mutations and non-HFE gene mutations (TFR2 and SLC40A1) in patients with phenotypic hemochromatosis from the Basque Country.
Castiella A et al.
International Journal of Laboratory Hematology, 2016
Iron chelation with deferasirox in a patient with de-novo ferroportin mutation.
Unal S et al.
Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (gms), 2015
HFE gene variants and iron-induced oxygen radical generation in idiopathic pulmonary fibrosis.
Sangiuolo F et al.
The European Respiratory Journal, 2015
Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.
Callebaut I et al.
Human Molecular Genetics, 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
Ferroportin-related haemochromatosis associated with novel Y64H mutation of the SCL40A1 gene.
Raszeja-Wyszomirska J et al.
Przeglad Gastroenterologiczny, 2014
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
Iranian hereditary hemochromatosis patients: baseline characteristics, laboratory data and gene mutations.
Zamani F et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2012
Should we screen for hereditary hemochromatosis in healthy Lebanese: a pilot study.
Mahfouz RA et al.
Molecular Biology Reports, 2012
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
The use of a reverse hybridization strip assay for the study of hemochromatosis-associated gene mutations in Lebanon.
Daher RT et al.
Genetic Testing and Molecular Biomarkers, 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