Associated Papers
New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.
Hernández G et al.
Genes, 2021
Juvenile Hemochromatosis: A Case Report and Review of the Literature.
Takami A et al.
Pharmaceuticals (basel, Switzerland), 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
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
Hemojuvelin and bone morphogenetic protein (BMP) signaling in iron homeostasis.
Core AB et al.
Frontiers in Pharmacology, 2014
Molecular diagnostic and pathogenesis of hereditary hemochromatosis.
Santos PCJL et al.
International Journal of Molecular Sciences, 2012
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Hemojuvelin N-terminal mutants reach the plasma membrane but do not activate the hepcidin response.
Pagani A et al.
Haematologica, 2008
The molecular genetics of haemochromatosis.
Le Gac G et al.
European Journal of Human Genetics : Ejhg, 2005
HJV gene mutations in European patients with juvenile hemochromatosis.
Gehrke SG et al.
Clinical Genetics, 2005
Non-HFE hemochromatosis: genetics, pathogenesis, and clinical management.
Nelson JE et al.
Current Gastroenterology Reports, 2005
Hemojuvelin (HJV)-associated hemochromatosis: analysis of HJV and HFE mutations and iron overload in three families.
Wallace DF et al.
Haematologica, 2005
Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis.
Lee PL et al.
British Journal of Haematology, 2004
Recent advances in understanding haemochromatosis: a transition state.
Robson KJ et al.
Journal of Medical Genetics, 2004
Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin.
Lee PL et al.
Blood, 2004
Hematologically important mutations: iron storage diseases.
Beutler L et al.
Blood Cells, Molecules & Diseases, 0