Associated Papers
Genetic variants underlying precancerous conditions of hepatocellular carcinoma.
Guerrero JJG et al.
International Journal of Cancer, 2026
Iron overload in hereditary spherocytosis: Are genetic factors the cause?
Donaty L et al.
British Journal of Haematology, 2026
An integrated approach to predict genetic risk for Mosquito-Borne diseases in the local Population of Tehsil Haripur, Khyber Pakhtunkhwa, Pakistan.
Basri R et al.
Scientific Reports, 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
Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.
Kirkham JK et al.
Jama Network Open, 2023
Somatic mutations reveal hyperactive Notch signaling and racial disparities in prurigo nodularis.
Rajeh A et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Ferroportin Q248H mutation was not found to be protective against malaria and anemia in children under 5 years living in South Kivu/Democratic Republic of Congo, an endemic area of P lasmodium infection.
Bahati YL et al.
Heliyon, 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
Similar Ferroportin Q248H polymorphism prevalence in patients with Plasmodium falciparum malaria and control subjects in the low-endemic setting of Botswana.
Manake MG et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021
The Role of Gene Variants in the Iron Metabolism of Anemic Adolescent Girls.
Varikuti SR et al.
Cureus, 2021
Ethnic Differences in Iron Status.
Kang W et al.
Advances in Nutrition (bethesda, Md.), 2021
Common host variation drives malaria parasite fitness in healthy human red cells.
Ebel ER et al.
Elife, 2021
Differences in the frequency of genetic variants associated with iron imbalance among global populations.
Jallow MW et al.
Plos One, 2020
Heritability and Genetics of Type 2 Diabetes Mellitus in Sub-Saharan Africa: A Systematic Review and Meta-Analysis.
Asamoah EA et al.
Journal of Diabetes Research, 2020
Iron overload and cirrhosis in referred HFE p.C282Y homozygotes with normal transferrin saturation and elevated serum ferritin.
Adams PC et al.
Canadian Liver Journal, 2020
Insights into malaria susceptibility using genome-wide data on 17,000 individuals from Africa, Asia and Oceania.
Unknown Author
Nature Communications, 2019
MiR-20b Down-Regulates Intestinal Ferroportin Expression In Vitro and In Vivo.
Jiang S et al.
Cells, 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
The ferroportin Q248H mutation protects from anemia, but not malaria or bacteremia.
Muriuki JM et al.
Science Advances, 2019
Dietary and Sentinel Factors Leading to Hemochromatosis.
Oh CK et al.
Nutrients, 2019
Erythrocytic ferroportin reduces intracellular iron accumulation, hemolysis, and malaria risk.
Zhang DL et al.
Science (new York, N.y.), 2018
The mechanisms of systemic iron homeostasis and etiology, diagnosis, and treatment of hereditary hemochromatosis.
Kawabata H
International Journal of Hematology, 2018
Ethnic and genetic factors of iron status in women of reproductive age.
Gordeuk VR et al.
The American Journal of Clinical Nutrition, 2017
Ferroportin disease: pathogenesis, diagnosis and treatment.
Pietrangelo A
Haematologica, 2017
Reply to Delanghe, Speeckaert, and De Buyzere: "The evolutionary adaptation of hemochromatosis associated mutations during the Neolithic".
Heath KM et al.
American Journal of Physical Anthropology, 2016
The association between fructosamine-3 kinase 900C/G polymorphism, transferrin polymorphism and human herpesvirus-8 infection in diabetics living in South Kivu.
Cikomola JC et al.
Acta Tropica, 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
Genetic risk of type 2 diabetes in populations of the African continent: A systematic review and meta-analyses.
Yako YY et al.
Diabetes Research and Clinical Practice, 2016
Racial Health Disparities, and Variant Red Cell and Iron Homeostasis.
Zacharski LR et al.
Journal of Health Care for the Poor and Underserved, 2016
Associations between hepcidin and immune response in individuals with hyperbilirubinaemia and severe malaria due to Plasmodium vivax infection.
Mendonça VR et al.
Malaria Journal, 2015
Serum ferritin concentration is affected by ferroportin Q248H mutation in Africans.
Kasvosve I et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015
Iron, inflammation, and early death in adults with sickle cell disease.
van Beers EJ et al.
Circulation Research, 2015
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
Ferroportin-related haemochromatosis associated with novel Y64H mutation of the SCL40A1 gene.
Raszeja-Wyszomirska J et al.
Przeglad Gastroenterologiczny, 2014
Reduced sensitivity of the ferroportin Q248H mutant to physiological concentrations of hepcidin.
Nekhai S et al.
Haematologica, 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
Ferroportin (SLC40A1) Q248H mutation is associated with lower circulating serum hepcidin levels in Rwandese HIV-positive women.
Masaisa F et al.
Annals of Hematology, 2012
Polymorphisms in the gene that encodes the iron transport protein ferroportin 1 influence susceptibility to tuberculosis.
Baker MA et al.
The Journal of Infectious Diseases, 2012
High prevalence of hemoglobin disorders and glucose-6-phosphate dehydrogenase (G6PD) deficiency in the Republic of Guinea (West Africa).
Millimono TS et al.
Hemoglobin, 2012
Molecular diagnostic and pathogenesis of hereditary hemochromatosis.
Santos PCJL et al.
International Journal of Molecular Sciences, 2012
Mild iron overload in an African American man with SLC40A1 D270V.
Lee PL et al.
Acta Haematologica, 2012
Non-HFE hemochromatosis.
Santos PC et al.
Revista Brasileira De Hematologia E Hemoterapia, 2012
SLC40A1 Q248H allele frequencies and associated SLC40A1 haplotypes in three West African population samples.
Albuquerque D et al.
Annals of Human Biology, 2011