Search
Now showing items 1-10 of 10
Iron-regulatory proteins limit hypoxia-inducible factor 2α expression in iron deficiency
(Springer Nature, 2007)
Hypoxia stimulates erythropoiesis, the major iron-utilization pathway. We report the discovery of a conserved, functional iron-responsive element (IRE) in the 5′ untranslated region of the messenger RNA ...
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 ...
A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria
(Ferrata Storti Foundation, 2021)
Porphyrias are a group of eight genetically distinct disorders, each resulting from a partial deficiency or gain-offunction of a specific enzyme in the heme biosynthetic pathway.1 Porphyrias are inherited ...
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 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 ...
The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2
(Ferrata Storti Foundation, 2018)
variants have previously been described in patients with myopathy, lactic acidosis and sideroblastic anemia 2 (MLASA2). encodes the mitochondrial tyrosyl-tRNA synthetase, which is responsible for ...
Control of systemic iron homeostasis by the 3’ iron-responsive element of divalent metal transporter 1 in mice
(Wolters Kluwer, 2020)
Tight control of intestinal iron absorption is required to avoid both iron insufficiency and excess.1 Dietary nonheme iron is taken up by absorptive enterocytes via the apical iron transporter DMT1 ...
Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype
(Springer Nature, 2018)
Although guidelines are available for hereditary hemochromatosis, a high percentage of the recommendations within them are not shared between the different guidelines. Our main aim is to provide an ...
Identification of target mRNAs of regulatory RNA-binding proteins using mRNP immunopurification and microarrays
(Springer Nature, 2007)
RNA-binding proteins (RBPs) frequently regulate the post-transcriptional fate of target mRNAs. To identify novel target mRNAs of RBPs, we incubate total RNA with recombinant RBP and immunoselect the ...