UseCases_ArguminSci_Discourse  

PubMed:10581038 JSONTXT 10 Projects

Annnotations TAB TSV DIC JSON TextAE

Id Subject Object Predicate Lexical cue
T1 0-109 DRI_Outcome denotes Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice.
T2 110-325 DRI_Background denotes Huntington disease (HD), an autosomal dominant, progressive neurodegenerative disorder, is caused by an expanded CAG repeat sequence leading to an increase in the number of glutamine residues in the encoded protein.
T3 326-500 DRI_Outcome denotes The normal CAG repeat range is 5-36, whereas 38 or more repeats are found in the diseased state; the severity of disease is roughly proportional to the number of CAG repeats.
T4 501-629 DRI_Outcome denotes HD shows anticipation, in which subsequent generations display earlier disease onsets due to intergenerational repeat expansion.
T5 630-837 DRI_Outcome denotes For longer repeat lengths, somatic instability of the repeat size has been observed both in human cases at autopsy and in transgenic mouse models containing either a genomic fragment of human HD exon 1 (ref.
T6 838-912 DRI_Approach denotes 9) or an expanded repeat inserted into the endogenous mouse gene Hdh (ref.
T7 913-917 DRI_Unspecified denotes 10).
T8 918-1110 DRI_Outcome denotes With increasing repeat number, the protein changes conformation and becomes increasingly prone to aggregation, suggesting important functional correlations between repeat length and pathology.
T9 1111-1327 DRI_Challenge denotes Because dinucleotide repeat instability is known to increase when the mismatch repair enzyme MSH2 is missing, we examined instability of the HD CAG repeat by crossing transgenic mice carrying exon 1 of human HD (ref.
T10 1328-1350 DRI_Unspecified denotes 16) with Msh2-/- mice.
T11 1351-1432 DRI_Outcome denotes Our results show that Msh2 is required for somatic instability of the CAG repeat.