Ferroportin disease due to the A77D mutation in Australia
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چکیده
منابع مشابه
The flatiron mutation in mouse ferroportin acts as a dominant negative to cause ferroportin disease.
Ferroportin disease is caused by mutation of one allele of the iron exporter ferroportin (Fpn/IREG1/Slc40a1/MTP1). All reported human mutations are missense mutations and heterozygous null mutations in mouse Fpn do not recapitulate the human disease. Here we describe the flatiron (ffe) mouse with a missense mutation (H32R) in Fpn that affects its localization and iron export activity. Similar t...
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Mammalian iron homeostasis is dominated by the fact that there is no normal excretory route for iron. Iron homeostasis is regulated at the level of intestinal absorption by the body’s demand for iron. In normal adults, iron absorption matches the rate of iron loss due to desquamification or intestinal sloughing. Iron absorption can be increased in response to increased need deriving from events...
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Mutations in the iron exporter ferroportin (Fpn) result in iron overload in macrophages or hepatocytes depending upon the mutation. Patients with Fpn mutation D157G show high serum ferritin and normal to slightly elevated transferrin saturation. Here, we show that Fpn(D157G)-green fluorescent protein (GFP) is down-regulated independent of hepcidin, and that this down-regulation is due to the co...
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cally confirmed Bernard-Soulier syndrome and MYH9 disorders2 were 5.3 ( 1.1) m (n 14) and 4.9 ( 1.1) m (n 81), respectively. These data are comparable with that of the patient in our study.1 Because routine automated blood cell counting systems differentiate blood cells by their size and therefore do not recognize giant platelets as platelets, mean platelet volume (MPV) does not reflect actual ...
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ژورنال
عنوان ژورنال: Gut
سال: 2005
ISSN: 0017-5749
DOI: 10.1136/gut.2005.069021