Mutations in HFE2 cause iron overload in chromosome 1q–linked juvenile hemochromatosis

By G. Papanikolaou, M. Samuels, E. Ludwig, M. Macdonald, P. Franchini, M. Dubé, Lisa Andres, J. Macfarlane, N. Sakellaropoulos, M. Politou and 14 more. Nature Genetics, 2004

1,001 citations recorded by the source corpus.

Subfields: Genetics, Hematology, Nutrition and Dietetics

View Paper: https://www.semanticscholar.org/paper/e3c06cf2e59087818a0e6f2329bd76fce0a27077

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Genetics

1. T. Ganz
2. Leonard I. Zon
3. Randall T. Peterson
4. E. Nemeth
5. V. Haase

In Hematology

1. T. Ganz
2. Leonard I. Zon
3. James R. Connor
4. E. Nemeth
5. V. Haase

In Nutrition and Dietetics

1. T. Ganz

Citations in the corpus

• The iron exporter ferroportin/Slc40a1 is essential for iron homeostasis. (2005, background): “…either resulting from mutations in hepcidin itself or from mutations in genes that must, in some way, control hepcidin expression (Bridle et al., 2003; Kawabata et al., 2005; Muckenthaler et al., 2003; Nemeth et al., 2005; Nicolas et al., 2003; Papanikolaou et al., 2004; Roetto et al., 2003).”
• Dorsomorphin inhibits BMP signals required for embryogenesis and iron metabolism. (2008, background): “BMP signals also have critical roles in physiology and disease, and they are implicated in primary pulmonary hypertension, hereditary hemorrhagic telangiectasia syndrome, fibrodysplasia ossificans progressiva and juvenile polyposis syndrom”
• Diagnosis and Management of Hemochromatosis: 2011 Practice Guideline by the American Association for the Study of Liver Diseases (2011, background): “The more common mutation occurs in the hemojuvelin (HJV) gene on chromosome 1q.(15) Mutations in the hepcidin gene (HAMP) also produce a form of juvenile HH, but this is much less common.”
• IL-6 mediates hypoferremia of inflammation by inducing the synthesis of the iron regulatory hormone hepcidin. (2004, neutral): “Hepcidin production was also diminished in another form of juvenile hemochromatosis due to mutations in the hemojuvelin gene (10) and in the most”
• Systemic iron homeostasis. (2013, background): “Its ablation leads to severe hepcidin deficiency and severe iron overload in humans (early onset, juvenile form of hereditary hemochromatosis) and in mice (113, 170, 177).”
• Iron, brain ageing and neurodegenerative disorders (2004, background): “, and haemojuvelin (HFE2) — the recently identified product of the gene for a juvenile form of haemochromatosi”