Associated Papers
Next Generation Sequencing Allows Identification of a Novel Mutation in the TfR2 Gene and Outperforms the Conventional Diagnostic Techniques.
Longo M et al.
Ejhaem, 2025
Selection for somatic escape variants in SERPINA1 in the liver of patients with alpha-1 antitrypsin deficiency.
Brzozowska N et al.
Nature Genetics, 2025
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
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
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
New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.
Hernández G et al.
Genes, 2021
Phenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease.
Sandhu K et al.
Blood, 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
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
Next-generation sequencing: Application of a novel platform to analyze atypical iron disorders.
McDonald CJ et al.
Journal of Hepatology, 2015
Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3.
Joshi R et al.
Molecular Genetics & Genomic Medicine, 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
A novel rat model of hereditary hemochromatosis due to a mutation in transferrin receptor 2.
Bartnikas TB et al.
Comparative Medicine, 2013
The hemochromatosis proteins HFE, TfR2, and HJV form a membrane-associated protein complex for hepcidin regulation.
D'Alessio F et al.
Journal of Hepatology, 2012
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
Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients.
Santos PC et al.
Blood Cells, Molecules & Diseases, 2011
Combined deletion of Hfe and transferrin receptor 2 in mice leads to marked dysregulation of hepcidin and iron overload.
Wallace DF et al.
Hepatology (baltimore, Md.), 2009
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
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
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
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
A novel mutation of transferrin receptor 2 in a Taiwanese woman with type 3 hemochromatosis.
Hsiao PJ et al.
Journal of Hepatology, 2007
H63D homozygotes with hyperferritinaemia: Is this genotype, the primary cause of iron overload?
de Diego C et al.
European Journal of Haematology, 2007
Hereditary hemochromatosis protein, HFE, interaction with transferrin receptor 2 suggests a molecular mechanism for mammalian iron sensing.
Goswami T et al.
The Journal of Biological Chemistry, 2006
Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload.
Majore S et al.
Haematologica, 2006
Hereditary iron overload: update on pathophysiology, diagnosis, and treatment.
Franchini M
American Journal of Hematology, 2006
Recent advances in hereditary hemochromatosis.
Franchini M et al.
Annals of Hematology, 2005
Investigation of genetic variants of genes of the hemochromatosis pathway and their role in breast cancer.
Abraham BK et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2005
Inherited iron loading: genetic testing in diagnosis and management.
Worwood M
Blood Reviews, 2005
Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis.
Koyama C et al.
Haematologica, 2005
Recent advances in understanding haemochromatosis: a transition state.
Robson KJ et al.
Journal of Medical Genetics, 2004
Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent.
Le Gac G et al.
British Journal of Haematology, 2004
Type 3 hemochromatosis and beta-thalassemia trait.
Riva A et al.
European Journal of Haematology, 2004
Molecular diagnosis of hereditary hemochromatosis: application of a newly-developed reverse-hybridization assay in the South African population.
Kotze MJ et al.
Clinical Genetics, 2004
Is genetic screening for hemochromatosis worthwhile?
Njajou OT et al.
European Journal of Epidemiology, 2004
Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload.
Biasiotto G et al.
Clinical Chemistry, 2003
Analysis of HFE and TFR2 mutations in selected blood donors with biochemical parameters of iron overload.
De Gobbi M et al.
Haematologica, 2003
New mutations inactivating transferrin receptor 2 in hemochromatosis type 3.
Roetto A et al.
Blood, 2001
[Hereditary hemochromatosis associated with hypoceruloplasminemia with absence of mutations in the HFE gene]].
Del Rey R et al.
Revista Espanola De Enfermedades Digestivas, 2000