Associated Papers
TFR2 p.A75V mutation aggravates liver iron overload in alcoholic liver disease via ERK pathway.
Xie C et al.
Journal of Molecular Medicine (berlin, Germany), 2026
Recurrent BMP4 variants in exon 4 cause non-HFE-associated hemochromatosis via the BMP/SMAD signaling pathway.
Ouyang Q et al.
Orphanet Journal of Rare Diseases, 2024
Novel compound heterozygous mutations in the hemojuvelin gene in a juvenile hemochromatosis patient: A case report.
Xie LD et al.
World Journal of Clinical Cases, 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
Clinical characteristics of endocrinopathies in Chinese patients with hereditary haemochromatosis.
Wu H et al.
Diabetes/metabolism Research and Reviews, 2021
Identification of heterozygous p.Y150C and p.V274M mutations in the HJV gene in a Japanese patient with a mild phenotype of juvenile hemochromatosis: A case report.
Kawaguchi T et al.
Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2020
Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review.
Kong X et al.
Orphanet Journal of Rare Diseases, 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
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
Identification of novel mutations in HFE, HFE2, TfR2, and SLC40A1 genes in Chinese patients affected by hereditary hemochromatosis.
Wang Y et al.
International Journal of Hematology, 2017
Next-generation sequencing of hereditary hemochromatosis-related genes: Novel likely pathogenic variants found in the Portuguese population.
Faria R et al.
Blood Cells, Molecules & Diseases, 2016
Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3.
Joshi R et al.
Molecular Genetics & Genomic Medicine, 2015
Iron storage disease in Asia-Pacific populations: the importance of non-HFE mutations.
McDonald CJ et al.
Journal of Gastroenterology and Hepatology, 2013
Identification of a novel mutation in the HAMP gene that causes non-detectable hepcidin molecules in a Japanese male patient with juvenile hemochromatosis.
Hattori A et al.
Blood Cells, Molecules & Diseases, 2012
HFE, SLC40A1, HAMP, HJV, TFR2, and FTL mutations detected by denaturing high-performance liquid chromatography after iron phenotyping and HFE C282Y and H63D genotyping in 785 HEIRS Study participants.
Barton JC et al.
American Journal of Hematology, 2009
Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes.
Mendes AI et al.
Annals of Hematology, 2009
New TFR2 mutations in young Italian patients with hemochromatosis.
Biasiotto G et al.
Haematologica, 2008
A novel mutation of transferrin receptor 2 in a Taiwanese woman with type 3 hemochromatosis.
Hsiao PJ et al.
Journal of Hepatology, 2007
Hemochromatosis and severe iron overload associated with compound heterozygosity for TFR2 R455Q and two novel mutations TFR2 R396X and G792R.
Lee PL et al.
Acta Haematologica, 2006
Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis.
Koyama C et al.
Haematologica, 2005
Transferrin receptor-2 polymorphisms and iron overload in transfusion independent b-thalassemia intermedia.
Ma ES et al.
Haematologica, 2003
Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Fars province of Iran.
Karimi M et al.
Haematologica, 2003
Mutation analysis of the transferrin receptor-2 gene in patients with iron overload.
Lee PL et al.
Blood Cells, Molecules & Diseases, 0
Can defects in transferrin receptor 2 and hereditary hemochromatosis genes account for iron overload in HbH disease?
Chan V et al.
Blood Cells, Molecules & Diseases, 0
TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy.
Radio FC et al.
Blood Cells, Molecules & Diseases, 0