Associated Papers
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
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
Primary Non-HFE Hemochromatosis: A Review.
Turshudzhyan A et al.
Journal of Clinical and Translational Hepatology, 2023
A Novel Mutation of Transferrin Receptor 2 in a Chinese Pedigree With Type 3 Hemochromatosis: A Case Report.
Tang S et al.
Frontiers in Genetics, 2022
Genetic variants in promoter region of TFR2 is associated with the risk of non-alcoholic fatty liver disease in a Chinese Han population: a case-control study.
Pan X et al.
Gastroenterology Report, 2022
New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.
Hernández G et al.
Genes, 2021
Evaluation of the Association of Transferrin Receptor Type 2 Gene Mutation (Y250X) with Iron Overload in Major β- Thalassemia.
Abdulmalek Jaafar J et al.
Archives of Razi Institute, 2021
Ethnic Differences in Iron Status.
Kang W et al.
Advances in Nutrition (bethesda, Md.), 2021
Global loss of Tfr2 with concomitant induced iron deficiency greatly ameliorates the phenotype of a murine thalassemia intermedia model.
Schmidt PJ et al.
American Journal of Hematology, 2021
Appropriate Clinical Genetic Testing of Hemochromatosis Type 2-4, Including Ferroportin Disease.
Kowdley DS et al.
The Application of Clinical Genetics, 2021
Extrahepatic deficiency of transferrin receptor 2 is associated with increased erythropoiesis independent of iron overload.
Wortham AM et al.
The Journal of Biological Chemistry, 2020
Role of TfR2-Y250X and TfR1- rs3817672 Single Nucleotide Polymorphism on Pathophysiology of Iron Deficiency Anemia.
Pandey S et al.
The Journal of the Association of Physicians of India, 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
Phenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease.
Sandhu K et al.
Blood, 2018
The mechanisms of systemic iron homeostasis and etiology, diagnosis, and treatment of hereditary hemochromatosis.
Kawabata H
International Journal of Hematology, 2018
Detection of a rare mutation in the ferroportin gene through targeted next generation sequencing.
Ferbo L et al.
Blood Transfusion = Trasfusione Del Sangue, 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
Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3.
Joshi R et al.
Molecular Genetics & Genomic Medicine, 2015
HFE gene variants and iron-induced oxygen radical generation in idiopathic pulmonary fibrosis.
Sangiuolo F et al.
The European Respiratory Journal, 2015
The role of hepatic transferrin receptor 2 in the regulation of iron homeostasis in the body.
Worthen CA et al.
Frontiers in Pharmacology, 2014
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
Disruption of hemochromatosis protein and transferrin receptor 2 causes iron-induced liver injury in mice.
Delima RD et al.
Hepatology (baltimore, Md.), 2012
Transgenic HFE-dependent induction of hepcidin in mice does not require transferrin receptor-2.
Schmidt PJ et al.
American Journal of Hematology, 2012
Should we screen for hereditary hemochromatosis in healthy Lebanese: a pilot study.
Mahfouz RA et al.
Molecular Biology Reports, 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
Mutations in HFE and TFR2 genes in a Spanish patient with hemochromatosis.
Rueda Adel C et al.
Revista Espanola De Enfermedades Digestivas, 2011
Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients.
Santos PC et al.
Blood Cells, Molecules & Diseases, 2011
Factors influencing disease phenotype and penetrance in HFE haemochromatosis.
Rochette J et al.
Human Genetics, 2010
Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment.
Pietrangelo A
Gastroenterology, 2010
Iron uptake from plasma transferrin by a transferrin receptor 2 mutant mouse model of haemochromatosis.
Chua AC et al.
Journal of Hepatology, 2010
HFE gene mutations and iron status of Brazilian blood donors.
Santos PC et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2010
An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: a multicentre study.
Tomaiuolo R et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2009
Genetics of hereditary hemochromatosis: a clinical perspective.
Gan EK et al.
Expert Review of Endocrinology & Metabolism, 2009
Expression of hepcidin and other iron-related genes in type 3 hemochromatosis due to a novel mutation in transferrin receptor-2.
Pelucchi S et al.
Haematologica, 2009
Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis.
Bittencourt PL et al.
Clinics (sao Paulo, Brazil), 2009
Rare types of genetic hemochromatosis.
Camaschella C et al.
Acta Haematologica, 2009
High prevalence of HFE gene mutations in patients with porphyria cutanea tarda in the Czech Republic.
Kratka K et al.
The British Journal of Dermatology, 2008
Hereditary hemochromatosis in the post-HFE era.
Olynyk JK et al.
Hepatology (baltimore, Md.), 2008
Early-onset haemochromatosis caused by a novel combination of TFR2 mutations(p.R396X/c.1538-2 A>G) in a woman of Italian descent.
Gérolami V et al.
Haematologica, 2008
Defective trafficking and localization of mutated transferrin receptor 2: implications for type 3 hereditary hemochromatosis.
Wallace DF et al.
American Journal of Physiology. Cell Physiology, 2008
Clinical perspectives on hereditary hemochromatosis.
Ayonrinde OT et al.
Critical Reviews in Clinical Laboratory Sciences, 2008
New HJV mutation in a patient with hyperferritinemia and H63D homozygosity for the HFE gene.
de Diego C et al.
International Journal of Hematology, 2007