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An Hfe-dependent pathway mediates hyposideremia in response to lipopolysaccharide-induced inflammation in mice
(Springer Nature, 2004)
Inflammation influences iron balance in the whole organism. A common clinical manifestation of these changes is anemia of chronic disease (ACD; also called anemia of inflammation). Inflammation reduces ...
Functional and clinical impact of novel Tmprss6 variants in iron-refractory iron-deficiency anemia patients and genotype–phenotype studies
(Wiley, 2014)
Iron-refractory iron-deficiency anemia (IRIDA) is a rare autosomal-recessive disorder characterized by hypochromic microcytic anemia, low transferrin saturation, and inappropriate high levels of the ...
Iron accumulation drives fibrosis, senescence and the senescence-associated secretory phenotype
(Springer Nature, 2023)
Fibrogenesis is part of a normal protective response to tissue injury that can become irreversible and progressive, leading to fatal diseases. Senescent cells are a main driver of fibrotic diseases ...
Iron refractory iron deficiency anemia
(Ferrata-Storti Foundation, 2013)
Iron refractory iron deficiency anemia is a hereditary recessive anemia due to a defect in the TMPRSS6In vitro gene encoding Matriptase-2. This protein is a transmembrane serine protease that plays an ...
Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms
(Oxford University Press, 2009)
Mutations leading to abrogation of matriptase-2 proteolytic activity in humans are associated with an iron-refractory iron deficiency anemia (IRIDA) due to elevated hepcidin levels. Here we describe two ...
Genetic and clinical heterogeneity in thirteen new cases with aceruloplasminemia. Atypical anemia as a clue for an early diagnosis
(MDPI, 2020)
Aceruloplasminemia is a rare autosomal recessive genetic disease characterized by mild microcytic anemia, diabetes, retinopathy, liver disease, and progressive neurological symptoms due to iron accumulation ...
Molecular evolution of multiple-level control of heme biosynthesis pathway in animal kingdom
(Public Library of Science, 2014)
Adaptation of enzymes in a metabolic pathway can occur not only through changes in amino acid sequences but also through variations in transcriptional activation, mRNA splicing and mRNA translation. The ...
The actin binding protein profilin 2 is a novel regulator of iron homeostasis
(ASH Publication, 2017)
Cellular iron homeostasis is controlled by the iron regulatory proteins (IRPs) 1 and 2 that bind cis-regulatory iron-responsive elements (IRE) on target messenger RNAs (mRNA). We identified profilin 2 ...