LitCoin-sentences  

PubMed:20801540 JSONTXT 34 Projects

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Id Subject Object Predicate Lexical cue
T1 0-113 Sentence denotes Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation.
T2 114-132 Sentence denotes BACKGROUND & AIMS:
T3 133-352 Sentence denotes Aceruloplasminemia is a rare autosomal recessive neurodegenerative disease associated with brain and liver iron accumulation which typically presents with movement disorders, retinal degeneration, and diabetes mellitus.
T4 353-495 Sentence denotes Ceruloplasmin is a multi-copper ferroxidase that is secreted into plasma and facilitates cellular iron export and iron binding to transferrin.
T5 496-504 Sentence denotes RESULTS:
T6 505-643 Sentence denotes A novel homozygous ceruloplasmin gene mutation, c.2554+1G>T, was identified as the cause of aceruloplasminemia in three affected siblings.
T7 644-704 Sentence denotes Two siblings presented with movement disorders and diabetes.
T8 705-863 Sentence denotes Complementary DNA sequencing showed that this mutation causes skipping of exon 14 and deletion of amino acids 809-852 while preserving the open reading frame.
T9 864-983 Sentence denotes Western blotting of liver extracts and sera of affected patients showed retention of the abnormal protein in the liver.
T10 984-1180 Sentence denotes Aceruloplasminemia was associated with severe brain and liver iron overload, where hepatic mRNA expression of the iron hormone hepcidin was increased, corresponding to the degree of iron overload.
T11 1181-1338 Sentence denotes Hepatic iron concentration normalized after 3 and 5months of iron chelation therapy with deferasirox, which was also associated with reduced insulin demands.
T12 1339-1456 Sentence denotes During short term treatment there was no clinical or imaging evidence for significant effects on brain iron overload.
T13 1457-1469 Sentence denotes CONCLUSIONS:
T14 1470-1614 Sentence denotes Aceruloplasminemia can show an incomplete clinical penetrance but is invariably associated with iron accumulation in the liver and in the brain.
T15 1615-1775 Sentence denotes Iron accumulation in aceruloplasminemia is a result of defective cellular iron export, where hepcidin regulation is appropriate for the degree of iron overload.
T16 1776-1881 Sentence denotes Iron chelation with deferasirox was effective in mobilizing hepatic iron but has no effect on brain iron.