Id |
Subject |
Object |
Predicate |
Lexical cue |
TextSentencer_T1 |
0-113 |
Sentence |
denotes |
Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation. |
T1 |
0-113 |
Sentence |
denotes |
Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation. |
TextSentencer_T2 |
114-132 |
Sentence |
denotes |
BACKGROUND & AIMS: |
T2 |
114-132 |
Sentence |
denotes |
BACKGROUND & AIMS: |
TextSentencer_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. |
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. |
TextSentencer_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. |
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. |
TextSentencer_T5 |
496-504 |
Sentence |
denotes |
RESULTS: |
T5 |
496-504 |
Sentence |
denotes |
RESULTS: |
TextSentencer_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. |
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. |
TextSentencer_T7 |
644-704 |
Sentence |
denotes |
Two siblings presented with movement disorders and diabetes. |
T7 |
644-704 |
Sentence |
denotes |
Two siblings presented with movement disorders and diabetes. |
TextSentencer_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. |
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. |
TextSentencer_T9 |
864-983 |
Sentence |
denotes |
Western blotting of liver extracts and sera of affected patients showed retention of the abnormal protein in the liver. |
T9 |
864-983 |
Sentence |
denotes |
Western blotting of liver extracts and sera of affected patients showed retention of the abnormal protein in the liver. |
TextSentencer_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. |
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. |
TextSentencer_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. |
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. |
TextSentencer_T12 |
1339-1456 |
Sentence |
denotes |
During short term treatment there was no clinical or imaging evidence for significant effects on brain iron overload. |
T12 |
1339-1456 |
Sentence |
denotes |
During short term treatment there was no clinical or imaging evidence for significant effects on brain iron overload. |
TextSentencer_T13 |
1457-1469 |
Sentence |
denotes |
CONCLUSIONS: |
T13 |
1457-1469 |
Sentence |
denotes |
CONCLUSIONS: |
TextSentencer_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. |
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. |
TextSentencer_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. |
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. |
TextSentencer_T16 |
1776-1881 |
Sentence |
denotes |
Iron chelation with deferasirox was effective in mobilizing hepatic iron but has no effect on brain iron. |
T16 |
1776-1881 |
Sentence |
denotes |
Iron chelation with deferasirox was effective in mobilizing hepatic iron but has no effect on brain iron. |