Results 11 to 20 of about 3,374,032 (169)
Estudi de les mutacions dels exons 2 i 4 del gen HFE en pacients amb porfiria cutània tarda esporàdica [PDF]
, 2006 [cat] La Porfíria Cutània Tarda (PCT) és una malaltia metabòlica que afecta a la pell i al fetge i que és desencadenada per la interacció de múltiples factors que inclouen l´herència, l´alcohol, el VHC, els estrògens i alguns agents tòxics, entre d ...
Toll Abelló, Agustí
core +6 more sources
Identification of an iron–hepcidin complex [PDF]
, 2008 Following its identification as a liver-expressed antimicrobial peptide, the hepcidin peptide was later shown to be a key player in iron homoeostasis. It is now proposed to be the 'iron hormone' which, by interacting with the iron transporter ferroportin,
Farnaud, SJ +5 more
core +8 more sources
Biochemical, Biophysical, and Cellular Investigations of the Interactions of Transferrin Receptor with Transferrin and the Hereditary Hemochromatosis Protein, HFE [PDF]
, 2004 Hereditary hemochromatosis (HH) is a prevalent genetic disorder that results in the daily excess absorption of dietary iron. If untreated this disease leads to systemic organ failure and death. HH is caused by mutations to the gene coding for a protein
Giannetti, Anthony Michael
core +1 more source
Biophysical and Cell Biological Studies Characterizing the Vertebrate Iron Exporter Ferroportin [PDF]
, 2009 Mammalian iron homeostasis is maintained by an intricate network of diverse proteins that constantly survey systemic iron levels and carefully regulate the uptake of iron from the diet. Control of this uptake is critically important because once iron is
Rice, Adrian Edward
core +1 more source
Molecular Genetics and Metabolism Reports, 2023 Lysinuric protein intolerance (LPI) is a rare, inherited aminoaciduria caused by biallelic pathogenic variants in the amino acid transporter gene SLC7A7 (OMIM *603593). Individuals with LPI show extreme variability in their clinical presentation, and LPI
Irem Kalay +4 more
doaj +1 more source
Paraoxonase-1 status in patients with hereditary hemochromatosis
Journal of Lipid Research, 2013 Hereditary hemochromatosis (HH) is characterized by accumulation of iron, oxidative stress, inflammation, and fibrogenesis in liver tissue. In this setting, research on the protection afforded by intracellular antioxidants is of clinical relevance ...
Nicola Martinelli +15 more
doaj +1 more source
The Role of Ferritin in Health and Disease: Recent Advances and Understandings
Metabolites, 2022 Systemic iron homeostasis needs to be tightly controlled, as both deficiency and excess iron cause major global health concerns, such as iron deficiency anemia, hemochromatosis, etc.
Nikhil Kumar Kotla +3 more
doaj +1 more source
Autopsy and Case Reports, 2015 Hereditary hemochromatosis (HH) is the most commonly identified autosomal recessive genetic disorder in the white population, characterized by increased intestinal iron absorption and secondary abnormal accumulation in parenchymal organs, not ...
Stephen A. Geller +1 more
doaj +1 more source
In-silico Molecular Analysis of Mutated Sequences of HFE1, HFE2, TFR2 and SLC40A1 causing Hemochromatosis Disease [PDF]
International Journal Bioautomation, 2011 Hemochromatosis is a disorder in iron metabolism that is characterized by excess iron absorption. There are two forms of hemochromatosis: primary hemochromatosis is caused by a problem with your genes.
Bilal Hussain +4 more
doaj
Frontiers in Cardiovascular Medicine, 2023 BackgroundIron overload cardiomyopathy (IOC) is a major co-morbidity of genetic hemochromatosis and secondary iron overload with limited therapeutic options.
Pavel Zhabyeyev +8 more
doaj +1 more source