HIF1A: A Putative Modifier of Hemochromatosis
نویسندگان
چکیده
منابع مشابه
Hepcidin, a candidate modifier of the hemochromatosis phenotype in mice.
Hereditary hemochromatosis (HH) type I is a disorder of iron metabolism caused by a mutation in the HFE gene. Whereas the prevalence of the mutation is very high, its penetrance seems very low. The goal of our study was to determine whether hepcidin, a recently identified iron-regulatory peptide, could be a genetic modifier contributing to the HH phenotype. In mice, deficiency of either HFE (Hf...
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The hereditary hemochromatosis protein HFE promotes the expression of hepcidin, a circulating hormone produced by the liver that inhibits dietary iron absorption and macrophage iron release. HFE mutations are associated with impaired hepatic bone morphogenetic protein (BMP)/SMAD signaling for hepcidin production. TMPRSS6, a transmembrane serine protease mutated in iron-refractory iron deficienc...
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متن کاملHepcidin: a putative iron-regulatory hormone relevant to hereditary hemochromatosis and the anemia of chronic disease.
D of iron homeostasis, resulting in iron deficiency or overload, are very common worldwide (1). Normal iron homeostasis depends on a close link between dietary iron absorption and body iron needs (2). The paper by Nicolas et al. in this issue of PNAS (3) presents the exciting possibility that a central player in the communication of body iron stores to the intestinal absorptive cells may have b...
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ژورنال
عنوان ژورنال: International Journal of Molecular Sciences
سال: 2021
ISSN: 1422-0067
DOI: 10.3390/ijms22031245