Concept
Juvenile hemochromatosis
Publications associées (6)
Analysis of mice with conditional ferritin H deletion
Iron is a transitional metal required by virtually all organisms as a dietary micromineral, indispensable for cellular survival and proliferation. The management of iron absorption and distribution in the organism and inside the cell must be tightly regula ...
EPFL2009Molecular mechanism of hepcidin deficiency in a patient with juvenile hemochromatosis
We describe a point mutation creating an additional ATG codon in the 5' untranslated region (UTR) of the HAMP gene, in a patient with juvenile hemochromatosis. By transient in vitro transfection studies, we provide evidence that the additional ATG is funct ...
Pensiero Scientifico / Ferrata Storti Foundation2007Coordinated emergency control of load shedding and FACTS devices
Alexandre Oudalov, Pavel Etingov
This paper describes the development of a control system and control strategies capable of governing multiple flexible AC transmission system (FACTS) devices in coordination with load shedding. The main purpose of the presented coordinated control system i ...
IEEE2005Experimental hemochromatosis due to MHC class I HFE deficiency: immune status and iron metabolism
The puzzling linkage between genetic hemochromatosis and histocompatibility loci became even more so when the gene involved, HFE, was identified. Indeed, within the well defined, mainly peptide-binding, MHC class I family of molecules, HFE seems to perform ...
1999The inability of cells to grow in low iron correlates with increasing activity of their iron regulatory protein (IRP)
We studied the factors that determine the differing growth requirements of low-iron-tolerant (LIT) versus high-iron-dependent (HID) cells for extracellular nontransferrin iron. The growth of LIT cells HeLa and THP-1, when transferred from transferrin (5 mi ...
1997