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Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis.
Department of Clinical and Biological Sciences, University of Torino, Azienda Ospedaliera San Luigi, 10043 Orbassano, Torino, Italy.
Animal models indicate that the antimicrobial peptide hepcidin (HAMP; OMIM 606464) is probably a key regulator of iron absorption in mammals. Here we report the identification of two mutations (93delG and 166C-->T) in HAMP on 19q13 in two families with a new type of juvenile hemochromatosis.
PMID: 12469120 [PubMed - indexed for MEDLINE]
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Cited by 39 PubMed Central articles
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Matriptase-2 (TMPRSS6): a proteolytic regulator of iron homeostasis.
Ramsay AJ, Hooper JD, Folgueras AR, Velasco G, López-Otín C.
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[Haematologica. 2009]
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A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis.
Island ML, Jouanolle AM, Mosser A, Deugnier Y, David V, Brissot P, Loréal O.
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[Haematologica. 2009]
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A novel immunological assay for hepcidin quantification in human serum.
Koliaraki V, Marinou M, Vassilakopoulos TP, Vavourakis E, Tsochatzis E, Pangalis GA, Papatheodoridis G, Stamoulakatou A, Swinkels DW, Papanikolaou G, et al.
PLoS One. 2009; 4(2):e4581. Epub 2009 Feb 24.
[PLoS One. 2009]
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