Associated Papers
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 mutation of transferrin receptor 2 causing hereditary hemochromatosis type 3 in a Japanese patient.
Tamai Y et al.
Hepatology Research : the Official Journal of the Japan Society of Hepatology, 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
A Rare Case Of a 2-year-old Boy With Alagille Syndrome and Type 3 Hereditary Hemochromatosis With TFR2 Mutation.
Khayat AA et al.
Journal of Pediatric Gastroenterology and Nutrition, 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
Phenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease.
Sandhu K et al.
Blood, 2018
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
A novel rat model of hereditary hemochromatosis due to a mutation in transferrin receptor 2.
Bartnikas TB et al.
Comparative Medicine, 2013
Clinicopathological study of Japanese patients with genetic iron overload syndromes.
Hattori A et al.
Pathology International, 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
Measurement of serum hepcidin-25 levels as a potential test for diagnosing hemochromatosis and related disorders.
Kaneko Y et al.
Journal of Gastroenterology, 2010
Genetic background of Japanese patients with adult-onset storage diseases in the liver.
Hayashi H et al.
Hepatology Research : the Official Journal of the Japan Society 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
Genetic background of primary iron overload syndromes in Japan.
Hayashi H et al.
Internal Medicine (tokyo, Japan), 2006
Two novel mutations, L490R and V561X, in transferrin receptor 2 in Japanese patients with hemochromatosis.
Bergamaschi G
Haematologica, 2005
Why do humans need two types of transferrin receptor? Lessons from a rare genetic disorder.
Camaschella C
Haematologica, 2005
Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis.
Koyama C et al.
Haematologica, 2005
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