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PubMed:12649279 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
T1 0-131 Sentence denotes Mutations in tau gene exon 10 associated with FTDP-17 alter the activity of an exonic splicing enhancer to interact with Tra2 beta.
T2 132-286 Sentence denotes Mutations in the human tau gene leading to aberrant splicing have been identified in FTDP-17, an autosomal dominant hereditary neurodegenerative disorder.
T3 287-380 Sentence denotes Molecular mechanisms by which such mutations cause tau aberrant splicing were not understood.
T4 381-458 Sentence denotes We characterized two mutations in exon 10 of the tau gene, N279K and Del280K.
T5 459-535 Sentence denotes Our results revealed an exonic splicing enhancer element located in exon 10.
T6 536-626 Sentence denotes The activity of this AG-rich splicing enhancer was altered by N279K and Del280K mutations.
T7 627-695 Sentence denotes This exonic enhancer element interacts with human Tra2 beta protein.
T8 696-841 Sentence denotes The interaction between Tra2 beta and the exonic splicing enhancer correlates with the activity of this enhancer element in stimulating splicing.
T9 842-1034 Sentence denotes Biochemical studies including in vitro splicing and RNA interference experiments in transfected cells support a role for Tra2 beta protein in regulating alternative splicing of human tau gene.
T10 1035-1269 Sentence denotes Our results implicate the human tau gene as a target gene for the alternative splicing regulator Tra2 beta, suggesting that Tra2 beta may play a role in aberrant tau exon 10 alternative splicing and in the pathogenesis of tauopathies.

PennBioIE

Id Subject Object Predicate Lexical cue
T1 0-9 protein denotes Mutations
T2 13-16 protein denotes tau
T3 22-29 protein denotes exon 10
T4 46-53 protein denotes FTDP-17
T5 121-130 protein denotes Tra2 beta
T6 134-141 protein denotes tations
T7 155-158 protein denotes tau
T8 217-224 protein denotes FTDP-17
T9 338-341 protein denotes tau
T10 402-411 protein denotes mutations
T11 415-422 protein denotes exon 10
T12 430-433 protein denotes tau
T13 440-441 protein denotes N
T14 441-444 protein denotes 279
T15 444-445 protein denotes K
T16 450-453 protein denotes Del
T17 453-456 protein denotes 280
T18 456-457 protein denotes K
T19 527-534 protein denotes exon 10
T20 598-599 protein denotes N
T21 599-602 protein denotes 279
T22 602-603 protein denotes K
T23 608-611 protein denotes Del
T24 611-614 protein denotes 280
T25 614-615 protein denotes K
T26 616-625 protein denotes mutations
T27 677-686 protein denotes Tra2 beta
T28 720-729 protein denotes Tra2 beta
T29 963-972 protein denotes Tra2 beta
T30 1025-1028 protein denotes tau
T31 1067-1070 protein denotes tau
T32 1132-1141 protein denotes Tra2 beta
T33 1159-1168 protein denotes Tra2 beta
T34 1197-1200 protein denotes tau
T35 1201-1208 protein denotes exon 10

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
12649279-9#32#35#gene4137 1067-1070 gene4137 denotes tau
12649279-9#97#106#gene6434 1132-1141 gene6434 denotes Tra2 beta
12649279-9#124#133#gene6434 1159-1168 gene6434 denotes Tra2 beta
12649279-9#222#233#diseaseC0949664 1257-1268 diseaseC0949664 denotes tauopathies
32#35#gene4137222#233#diseaseC0949664 12649279-9#32#35#gene4137 12649279-9#222#233#diseaseC0949664 associated_with tau,tauopathies
97#106#gene6434222#233#diseaseC0949664 12649279-9#97#106#gene6434 12649279-9#222#233#diseaseC0949664 associated_with Tra2 beta,tauopathies
124#133#gene6434222#233#diseaseC0949664 12649279-9#124#133#gene6434 12649279-9#222#233#diseaseC0949664 associated_with Tra2 beta,tauopathies

DisGeNET

Id Subject Object Predicate Lexical cue
T0 1067-1070 gene:4137 denotes tau
T1 1257-1268 disease:C0949664 denotes tauopathies
T2 1132-1141 gene:6434 denotes Tra2 beta
T3 1257-1268 disease:C0949664 denotes tauopathies
T4 1159-1168 gene:6434 denotes Tra2 beta
T5 1257-1268 disease:C0949664 denotes tauopathies
R1 T0 T1 associated_with tau,tauopathies
R2 T2 T3 associated_with Tra2 beta,tauopathies
R3 T4 T5 associated_with Tra2 beta,tauopathies

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 46-53 Disease denotes FTDP-17 http://purl.obolibrary.org/obo/MONDO_0010857
T2 217-224 Disease denotes FTDP-17 http://purl.obolibrary.org/obo/MONDO_0010857
T3 248-285 Disease denotes hereditary neurodegenerative disorder http://purl.obolibrary.org/obo/MONDO_0024237

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 149-154 OrganismTaxon denotes human 9606
T2 671-676 OrganismTaxon denotes human 9606
T3 1019-1024 OrganismTaxon denotes human 9606
T4 1061-1066 OrganismTaxon denotes human 9606