Associated Papers
Comparison between dietary, parenteral, and genetic iron overload on bone health reveals secondary iron overload as a driver of cortical bone loss and fracture risk in mice.
Steele-Perkins P et al.
Jbmr Plus, 2025
Bone phenotyping of murine hemochromatosis models with deficiencies of Hjv, Alk2, or Alk3: The influence of sex and the bone compartment.
Dogan DY et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024
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
Iron overload due to SLC40A1 mutation of type 4 hereditary hemochromatosis.
Hu J et al.
Medical Molecular Morphology, 2023
Nutritional Aspects of Iron in Health and Disease.
Charlebois E et al.
Nutrients, 2023
Structural basis of ferroportin inhibition by minihepcidin PR73.
Wilbon AS et al.
Plos Biology, 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
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
Liver Sinusoidal Endothelial Cells Suppress Bone Morphogenetic Protein 2 Production in Response to TGFβ Pathway Activation.
Colucci S et al.
Hepatology (baltimore, Md.), 2021
RNF217 regulates iron homeostasis through its E3 ubiquitin ligase activity by modulating ferroportin degradation.
Jiang L et al.
Blood, 2021
Shaping the bone through iron and iron-related proteins.
Ledesma-Colunga MG et al.
Seminars in Hematology, 2021
Iron chelators reverse organ damage in type 4B hereditary hemochromatosis: Case reports.
Wu LY et al.
Medicine, 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
The haemochromatosis gene Hfe and Kupffer cells control LDL cholesterol homeostasis and impact on atherosclerosis development.
Demetz E et al.
European Heart Journal, 2020
Disruption of the hepcidin/ferroportin regulatory circuitry causes low axial bone mass in mice.
Ledesma-Colunga MG et al.
Bone, 2020
Hepcidin, an overview of biochemical and clinical properties.
Rauf A et al.
Steroids, 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
Ferroportin Disease Caused by a Heterozygous Variant p.Cys326Phe in the SLC40A1 Gene and the Efficacy of Therapeutic Phlebotomy in Children.
Shimura M et al.
Journal of Pediatric Hematology/oncology, 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
Transferrin receptor 2 controls bone mass and pathological bone formation via BMP and Wnt signaling.
Rauner M et al.
Nature Metabolism, 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
Disruption of the Hepcidin/Ferroportin Regulatory System Causes Pulmonary Iron Overload and Restrictive Lung Disease.
Neves J et al.
Ebiomedicine, 2017
Human macrophage ferroportin biology and the basis for the ferroportin disease.
Sabelli M et al.
Hepatology (baltimore, Md.), 2017
Molecular pathogenesis of hereditary hemochromatosis.
Liu J et al.
Histology and Histopathology, 2016
Novel gain of function mutation in the SLC40A1 gene associated with hereditary haemochromatosis type 4.
Chen SR et al.
Internal Medicine Journal, 2015
Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.
Callebaut I et al.
Human Molecular Genetics, 2014
Resistance of ferroportin to hepcidin binding causes exocrine pancreatic failure and fatal iron overload.
Altamura S et al.
Cell Metabolism, 2014
A convenient luminescence assay of ferroportin internalization to study its interaction with hepcidin.
Song G et al.
The Febs Journal, 2013
Effect of ferroportin polymorphism on iron homeostasis and infection.
Kasvosve I
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2013
Hepcidin-induced endocytosis of ferroportin is dependent on ferroportin ubiquitination.
Qiao B et al.
Cell Metabolism, 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
Hereditary hemochromatosis: laboratory evaluation.
Moyer TP et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011
Hepcidin and ferroportin: the new players in iron metabolism.
De Domenico I et al.
Seminars in Liver Disease, 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
Molecular diagnosis of genetic iron-overload disorders.
Brissot P et al.
Expert Review of Molecular Diagnostics, 2010
Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment.
Pietrangelo A
Gastroenterology, 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
Hereditary hemochromatosis due to resistance to hepcidin: high hepcidin concentrations in a family with C326S ferroportin mutation.
Sham RL 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
Rare types of genetic hemochromatosis.
Camaschella C et al.
Acta Haematologica, 2009