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
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
Molecular diagnostic and pathogenesis of hereditary hemochromatosis.
Santos PCJL et al.
International Journal of Molecular Sciences, 2012
Hemojuvelin N-terminal mutants reach the plasma membrane but do not activate the hepcidin response.
Pagani A et al.
Haematologica, 2008
Defective targeting of hemojuvelin to plasma membrane is a common pathogenetic mechanism in juvenile hemochromatosis.
Silvestri L et al.
Blood, 2007
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
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