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
Repulsive guidance molecules lock growth differentiation factor 5 in an inhibitory complex.
Malinauskas T et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
Hemojuvelin and bone morphogenetic protein (BMP) signaling in iron homeostasis.
Core AB et al.
Frontiers in Pharmacology, 2014
Repulsive guidance molecules (RGMs) and neogenin in bone morphogenetic protein (BMP) signaling.
Tian C et al.
Molecular Reproduction and Development, 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
Molecular diagnostic and pathogenesis of hereditary hemochromatosis.
Santos PCJL et al.
International Journal of Molecular Sciences, 2012
Soluble repulsive guidance molecule c/hemojuvelin is a broad spectrum bone morphogenetic protein (BMP) antagonist and inhibits both BMP2- and BMP6-mediated signaling and gene expression.
Nili M et al.
The Journal of Biological Chemistry, 2010
Hemojuvelin-neogenin interaction is required for bone morphogenic protein-4-induced hepcidin expression.
Zhang AS et al.
The Journal of Biological Chemistry, 2009
Hemojuvelin N-terminal mutants reach the plasma membrane but do not activate the hepcidin response.
Pagani A et al.
Haematologica, 2008
Selective binding of RGMc/hemojuvelin, a key protein in systemic iron metabolism, to BMP-2 and neogenin.
Kuns-Hashimoto R et al.
American Journal of Physiology. Cell Physiology, 2008
Defective targeting of hemojuvelin to plasma membrane is a common pathogenetic mechanism in juvenile hemochromatosis.
Silvestri L et al.
Blood, 2007
Complex biosynthesis of the muscle-enriched iron regulator RGMc.
Kuninger D et al.
Journal of Cell Science, 2006
Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression.
Babitt JL et al.
Nature Genetics, 2006
The molecular genetics of haemochromatosis.
Le Gac G et al.
European Journal of Human Genetics : Ejhg, 2005
Non-HFE hemochromatosis: genetics, pathogenesis, and clinical management.
Nelson JE et al.
Current Gastroenterology Reports, 2005
Recent advances in understanding haemochromatosis: a transition state.
Robson KJ et al.
Journal of Medical Genetics, 2004
The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype.
Le Gac G et al.
Human Molecular Genetics, 2004
Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.
Lanzara C et al.
Blood, 2004
Prevalence of the G320V mutation of the HJV gene, associated with juvenile hemochromatosis, in Greece.
Pissia M et al.
Haematologica, 2004
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.
Papanikolaou G et al.
Nature Genetics, 2004
Hematologically important mutations: iron storage diseases.
Beutler L et al.
Blood Cells, Molecules & Diseases, 0