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PubMed:15489504 JSONTXT

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GlyCosmos6-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 854-861 Body_part denotes systems http://purl.obolibrary.org/obo/UBERON_0000467
T2 1060-1069 Body_part denotes junctions http://purl.obolibrary.org/obo/UBERON_0007651

sentences

Id Subject Object Predicate Lexical cue
T1 0-93 Sentence denotes The myotonic dystrophy type 1 triplet repeat sequence induces gross deletions and inversions.
T2 94-240 Sentence denotes The capacity of (CTG.CAG)n and (GAA.TTC)n repeat tracts in plasmids to induce mutations in DNA flanking regions was evaluated in Escherichia coli.
T3 241-369 Sentence denotes Long repeats of these sequences are involved in the etiology of myotonic dystrophy type 1 and Friedreich's ataxia, respectively.
T4 370-487 Sentence denotes Long (CTG.CAG)n (where n = 98 and 175) caused the deletion of most, or all, of the repeats and the flanking GFP gene.
T5 488-546 Sentence denotes Deletions of 0.6-1.8 kbp were found as well as inversions.
T6 547-665 Sentence denotes Shorter repeat tracts (where n = 0 or 17) were essentially inert, as observed for the (GAA.TTC)176-containing plasmid.
T7 666-862 Sentence denotes The orientation of the triplet repeat sequence (TRS) relative to the unidirectional origin of replication had a pronounced effect, signaling the participation of replication and/or repair systems.
T8 863-943 Sentence denotes Also, when the TRS was transcribed, the level of deletions was greatly elevated.
T9 944-1019 Sentence denotes Under certain conditions, 30-50% of the products contained gross deletions.
T10 1020-1161 Sentence denotes DNA sequence analyses of the breakpoint junctions in 47 deletions revealed the presence of 1-8-bp direct or inverted homologies in all cases.
T11 1162-1317 Sentence denotes Also, the presence of non-B folded conformations (i.e. slipped structures, cruciforms, or triplexes) at or near the breakpoints was predicted in all cases.
T12 1318-1524 Sentence denotes This genetic behavior, which was previously unrecognized for a TRS, may provide the basis for a new type of instability of the myotonic dystrophy protein kinase (DMPK) gene in patients with a full mutation.

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 153-161 OrganismTaxon denotes plasmids NCBItxid:36549
T2 223-239 OrganismTaxon denotes Escherichia coli NCBItxid:562
T3 657-664 OrganismTaxon denotes plasmid NCBItxid:45202

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 4-29 Disease denotes myotonic dystrophy type 1 http://purl.obolibrary.org/obo/MONDO_0008056
T2 305-330 Disease denotes myotonic dystrophy type 1 http://purl.obolibrary.org/obo/MONDO_0008056
T3 335-354 Disease denotes Friedreich's ataxia http://purl.obolibrary.org/obo/MONDO_0009245
T4 714-717 Disease denotes TRS http://purl.obolibrary.org/obo/MONDO_0005414|http://purl.obolibrary.org/obo/MONDO_0010107
T6 878-881 Disease denotes TRS http://purl.obolibrary.org/obo/MONDO_0005414|http://purl.obolibrary.org/obo/MONDO_0010107
T8 1381-1384 Disease denotes TRS http://purl.obolibrary.org/obo/MONDO_0005414|http://purl.obolibrary.org/obo/MONDO_0010107
T10 1445-1463 Disease denotes myotonic dystrophy http://purl.obolibrary.org/obo/MONDO_0016107