LitCoin-sentences  

PubMed:15749661 JSONTXT 28 Projects

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Id Subject Object Predicate Lexical cue
T1 0-115 Sentence denotes Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis.
T2 116-142 Sentence denotes BACKGROUND AND OBJECTIVES:
T3 143-299 Sentence denotes The low prevalence of the C282Y mutation of the HFE gene in Japan means that the genetic background of hemochromatosis in Japanese patients remains unclear.
T4 300-433 Sentence denotes In a previous report, we showed that 3 patients from one family had an AVAQ 594-597 deletion of the transferrin receptor (TfR2) gene.
T5 434-519 Sentence denotes This suggests that the TfR2 gene is involved in hemochromatosis in Japanese patients.
T6 520-539 Sentence denotes DESIGN AND METHODS:
T7 540-623 Sentence denotes Nine patients clinically diagnosed with hemochromatosis were included in the study.
T8 624-699 Sentence denotes DNA was extracted from whole blood samples collected with informed consent.
T9 700-788 Sentence denotes The HFE and TfR2 genes were analyzed by sequencing the coding region and splicing sites.
T10 789-797 Sentence denotes RESULTS:
T11 798-838 Sentence denotes There were no mutations in the HFE gene.
T12 839-940 Sentence denotes In the TfR2 gene, 2 novel mutations, 1469T->G (L490R) and 1665delC (V561X), were found in 2 patients.
T13 941-1017 Sentence denotes A known variation, 714C-> (I238M), was also found in the patient with L490R.
T14 1018-1144 Sentence denotes The patient homozygous for both L490R and I238M presented with a mild manifestation of hemochromatosis at the age of 41 years.
T15 1145-1281 Sentence denotes His liver was cirrhotic with parenchymal iron deposits and the result of a glucose tolerance test was compatible with diabetes mellitus.
T16 1282-1432 Sentence denotes The patient homozygous for V561X had severe iron overload with the triad of cirrhosis, diabetes mellitus and skin pigmentation at the age of 58 years.
T17 1433-1464 Sentence denotes INTERPRETATION AND CONCLUSIONS:
T18 1465-1605 Sentence denotes Taken together with the previous report, 5 of our 12 patients with hemochromatosis manifesting in middle age had mutations in the TfR2 gene.
T19 1606-1678 Sentence denotes Thus, TfR2 plays a role in the pathogenesis of hemochromatosis in Japan.