Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis.

By K. Bridle, D. Frazer, S. Wilkins, J. Dixon, D. Purdie, D. Crawford, V. Subramaniam, LawrieW. Powell, G. Anderson, G. Ramm. The Lancet, 2003

631 citations recorded by the source corpus.

Subfields: Genetics, Hematology

View Paper: https://www.semanticscholar.org/paper/3a9755dc92a72955e4cf39f2527a45cd13282083

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. G. Papanikolaou
2. Leonard I. Zon
3. Kostas Pantopoulos
4. T. Ganz

In Hematology

1. G. Papanikolaou
2. Leonard I. Zon
3. Tracey Rouault
4. Kostas Pantopoulos
5. T. Ganz

Citations in the corpus

• The iron exporter ferroportin/Slc40a1 is essential for iron homeostasis. (2005, background): “…hepcidin levels, 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…”
• Body iron metabolism and pathophysiology of iron overload (2008, background): “These reports strongly suggest that hepcidin plays an important role in tissue iron deposition in many iron-overloaded conditions including HFE hemochromatosis [15].”
• IL-6 mediates hypoferremia of inflammation by inducing the synthesis of the iron regulatory hormone hepcidin. (2004, neutral): “common form of hemochromatosis, that caused by mutations in the HFE gene (11, 12).”
• Lack of the bone morphogenetic protein BMP6 induces massive iron overload (2009, background): “Individuals with mutations in HFE , in the gene encoding transferrin receptor 2 ( TFR2 ) and in HFE2 have low hepcidi”
• A role of SMAD4 in iron metabolism through the positive regulation of hepcidin expression. (2005, background): “The OMIM database divides hemochromatosis into four classes: type1 (HFE mutation related) ( Bridle et al., 2003; Gehrke et al., 2003), two juvenile types: type2A (Hemojuvelin related) (Papanikolaou et al., 2004), and type2B (hepcidin related) (Roetto et al., 2003), and type3 (TFR2 related) (Kawabat”
• Iron metabolism and toxicity. (2005, background): “It was recently shown in liver biopsies of HH patients with HFE mutations that hepcidin mRNA expression levels are inappropriately low, despite hepatic iron overload (Bridle et al., 2003; Gehrke et al., 2003).”