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
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
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
New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.
Hernández G et al.
Genes, 2021
Genetic characterization of pediatric primary hemophagocytic lymphohistiocytosis in China: a single-center study.
Zhang L et al.
Annals of Hematology, 2019
Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review.
Kong X et al.
Orphanet Journal of Rare Diseases, 2019
31286966 (PubMed )
Supplement: 13023_2019_1097_MOESM3_ESM.docx
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM8_ESM.xlsx › Supplementary_Data_5
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
Iron overload patients with unknown etiology from national survey in Japan.
Ikuta K et al.
International Journal of Hematology, 2017
Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3.
Joshi R et al.
Molecular Genetics & Genomic Medicine, 2015
Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.
Tan ZP et al.
Scientific Reports, 2014
25010007 (PubMed )
Supplement: srep05616-s2.xls › dominant_result_new
A novel rat model of hereditary hemochromatosis due to a mutation in transferrin receptor 2.
Bartnikas TB et al.
Comparative Medicine, 2013
Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients.
Santos PC et al.
Blood Cells, Molecules & Diseases, 2011
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
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
Select a paper to view details