Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

By A. Roetto, G. Papanikolaou, M. Politou, F. Alberti, D. Girelli, J. Christakis, D. Loukopoulos, C. Camaschella. Nature Genetics, 2003

923 citations recorded by the source corpus.

Subfields: Genetics, Hematology, Nutrition and Dietetics

View Paper: https://www.semanticscholar.org/paper/8e61e9519f916b39a5019546418b41a362128f6c

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. E. Nemeth
3. A. Pietrangelo
4. Kostas Pantopoulos
5. S. Rivera
6. B. K. Pedersen
7. C. Keller
8. V. Gabayan

In Hematology

1. T. Ganz
2. E. Nemeth
3. Kostas Pantopoulos
4. A. Pietrangelo
5. G. Papanikolaou
6. S. Rivera
7. B. K. Pedersen
8. C. Keller

In Nutrition and Dietetics

1. T. Ganz
2. E. Nemeth
3. G. Papanikolaou
4. Tracey Rouault
5. Kostas Pantopoulos
6. B. K. Pedersen
7. Clifford J. Woolf

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).”
• Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression (2006, background): “Mice lacking hepcidin expression and humans with mutations in the hepcidin gene ( HAMP ) have been found to develop severe iron overload at an early age, thus defining the first discovered cause of juvenile hemochromatosi”
• Mutations in HFE2 cause iron overload in chromosome 1q–linked juvenile hemochromatosis (2004, background): “Two families with juvenile hemochromatosis not linked to 1q were recently found to have loss-of-function mutations in the gene encoding hepcidi”
• Systemic iron homeostasis. (2013, background): “At the other extreme, hepcidin deficiency in mice or humans causes hyperabsorption of iron and iron overload in parenchymal organs including the liver, pancreas, and the heart, coupled with the paradoxical loss of macrophage iron stores (137, 166, 204).”
• A role of SMAD4 in iron metabolism through the positive regulation of hepcidin expression. (2005, background): “…hemochromatosis that are caused by mutations of several other genes, including ferroportin 1(FPN1) (Montosi et al., 2001; Njajou et al., 2001), transferrin receptor 2 ( TFR2 ) (Camaschella et al., 2000), hemojuvelin ( HFE2 ) (Papanikolaou et al., 2004), and hepcidin ( HAMP ) (Roetto et al., 2003).”
• BMP-6 is a key endogenous regulator of hepcidin expression and iron metabolism (2009, positive): “335" language="eng" relation="no"> Juvenile hemochromatosis is an iron-overload disorder caused by mutations in the genes encoding the major iron regulatory hormone hepcidin ( HAMP”
• Iron metabolism and toxicity. (2005, background): “A first link of hepcidin with human disease was established by the identification of hepcidininactivating mutations in a rare form of juvenile hemochromatosis (Roetto et al., 2003).”
• IL-6 mediates hypoferremia of inflammation by inducing the synthesis of the iron regulatory hormone hepcidin. (2004, positive): “There is a single human hepcidin gene whose essential role in iron homeostasis was confirmed by identifying homozygous frameshift or nonsense mutations in affected individuals with severe juvenile hemochromatosis (9).”