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PubMed_Structured_Abstracts

Id Subject Object Predicate Lexical cue
T1 103-382 BACKGROUND denotes Huntington's disease (HD) is a progressive autosomal dominant neurodegenerative disorder caused by a CAG repeat expansion in the HD gene (HTT). The CAG domain of mutant HTT is unstable upon intergenerational transmission, however, little is known about the underlying mechanisms.
T2 392-945 METHODS denotes From the HD archives of the Leiden University Medical Centre DNA samples from all parent-offspring pairs involving 36 CAG repeats or more were selected. To minimize procedural variability, CAG repeat lengths in both mutant and normal HTT were reassessed using the same standardized protocol, which resulted in the identification of 337 parent-offspring transmissions. The effects of both parental (mutant and normal CAG repeat size, age and gender) and offspring (gender and season of conception) characteristics on CAG repeat instability were assessed.
T3 955-1551 RESULTS denotes Paternal transmissions were often associated with CAG repeat expansion, whereas maternal transmissions mainly resulted in CAG repeat contraction (mean change: +1.76 vs. -0.07, p<0.001). Only in paternal transmissions larger mutant CAG repeat size was associated with a greater degree of CAG repeat expansion (β=0.73; p<0.001). Conversely, only in maternal transmissions larger CAG repeat size of the normal allele was associated with a greater degree of CAG repeat contraction (β=-0.07; p=0.029). Parental age, offspring gender and season of conception were not related to CAG repeat instability.
T4 1564-1806 CONCLUSIONS denotes Our findings suggest a slight maternal contraction bias as opposed to a paternal expansion bias of the mutant HTT CAG repeat during intergenerational transmission, which only in the maternal line is associated with normal HTT CAG repeat size.

c_corpus

Id Subject Object Predicate Lexical cue
T1 39-42 PR:P51111 denotes HTT
T2 39-42 PR:000015189 denotes HTT
T3 39-42 PR:Q76P24 denotes HTT
T4 39-42 PR:P31645 denotes HTT
T5 39-42 PR:P42859 denotes HTT
T6 39-42 PR:Q60857 denotes HTT
T7 39-42 PR:P42858 denotes HTT
T8 39-42 PR:000008840 denotes HTT
T9 43-46 CVCL_D569 denotes CAG
T10 47-53 SO:0001068 denotes repeat
T15 69-89 D006816 denotes Huntington's disease
T16 69-89 D006816 denotes Huntington's disease
T23 103-123 D006816 denotes Huntington's disease
T24 103-123 D006816 denotes Huntington's disease
T27 146-164 C566739 denotes autosomal dominant
T30 165-191 D019636 denotes neurodegenerative disorder
T31 165-191 D019636 denotes neurodegenerative disorder
T32 204-207 CVCL_D569 denotes CAG
T33 208-214 SO:0001068 denotes repeat
T34 235-239 SO:0000704 denotes gene
T35 241-244 PR:P51111 denotes HTT
T36 241-244 PR:000015189 denotes HTT
T37 241-244 PR:Q76P24 denotes HTT
T38 241-244 PR:P31645 denotes HTT
T39 241-244 PR:P42859 denotes HTT
T40 241-244 PR:Q60857 denotes HTT
T41 241-244 PR:P42858 denotes HTT
T42 241-244 PR:000008840 denotes HTT
T43 251-254 CVCL_D569 denotes CAG
T44 255-261 SO:0000417 denotes domain
T45 272-275 PR:P51111 denotes HTT
T46 272-275 PR:000015189 denotes HTT
T47 272-275 PR:Q76P24 denotes HTT
T48 272-275 PR:P31645 denotes HTT
T49 272-275 PR:P42859 denotes HTT
T50 272-275 PR:Q60857 denotes HTT
T51 272-275 PR:P42858 denotes HTT
T52 272-275 PR:000008840 denotes HTT
T53 453-456 GO:0005574 denotes DNA
T55 453-456 SO:0000352 denotes DNA
T54 453-456 CHEBI:16991 denotes DNA
T56 453-456 D004247 denotes DNA
T57 510-513 CVCL_D569 denotes CAG
T58 581-584 CVCL_D569 denotes CAG
T59 585-591 SO:0001068 denotes repeat
T60 626-629 PR:P51111 denotes HTT
T61 626-629 PR:000015189 denotes HTT
T62 626-629 PR:Q76P24 denotes HTT
T63 626-629 PR:P31645 denotes HTT
T64 626-629 PR:P42859 denotes HTT
T65 626-629 PR:Q60857 denotes HTT
T66 626-629 PR:P42858 denotes HTT
T67 626-629 PR:000008840 denotes HTT
T68 808-811 CVCL_D569 denotes CAG
T69 812-818 SO:0001068 denotes repeat
T70 908-911 CVCL_D569 denotes CAG
T71 912-918 SO:0001068 denotes repeat
T72 1005-1008 CVCL_D569 denotes CAG
T73 1009-1015 SO:0001068 denotes repeat
T74 1077-1080 CVCL_D569 denotes CAG
T75 1081-1087 SO:0001068 denotes repeat
T76 1186-1189 CVCL_D569 denotes CAG
T77 1190-1196 SO:0001068 denotes repeat
T78 1242-1245 CVCL_D569 denotes CAG
T79 1246-1252 SO:0001068 denotes repeat
T80 1332-1335 CVCL_D569 denotes CAG
T81 1336-1342 SO:0001068 denotes repeat
T82 1362-1368 SO:0001023 denotes allele
T83 1409-1412 CVCL_D569 denotes CAG
T84 1413-1419 SO:0001068 denotes repeat
T85 1528-1531 CVCL_D569 denotes CAG
T86 1532-1538 SO:0001068 denotes repeat
T88 1674-1677 PR:P51111 denotes HTT
T89 1674-1677 PR:000015189 denotes HTT
T90 1674-1677 PR:Q76P24 denotes HTT
T91 1674-1677 PR:P31645 denotes HTT
T92 1674-1677 PR:P42859 denotes HTT
T93 1674-1677 PR:Q60857 denotes HTT
T94 1674-1677 PR:P42858 denotes HTT
T95 1674-1677 PR:000008840 denotes HTT
T96 1678-1681 CVCL_D569 denotes CAG
T97 1682-1688 SO:0001068 denotes repeat
T98 1786-1789 PR:P51111 denotes HTT
T99 1786-1789 PR:000015189 denotes HTT
T100 1786-1789 PR:Q76P24 denotes HTT
T101 1786-1789 PR:P31645 denotes HTT
T102 1786-1789 PR:P42859 denotes HTT
T103 1786-1789 PR:Q60857 denotes HTT
T104 1786-1789 PR:P42858 denotes HTT
T105 1786-1789 PR:000008840 denotes HTT
T106 1790-1793 CVCL_D569 denotes CAG
T107 1794-1800 SO:0001068 denotes repeat

Allie

Id Subject Object Predicate Lexical cue
SS1_21540131_2_0 103-123 expanded denotes Huntington's disease
SS2_21540131_2_0 125-127 abbr denotes HD
AE1_21540131_2_0 SS1_21540131_2_0 SS2_21540131_2_0 abbreviatedTo Huntington's disease,HD

UseCases_ArguminSci_Discourse

Id Subject Object Predicate Lexical cue
T1 0-90 DRI_Challenge denotes Parent-of-origin differences of mutant HTT CAG repeat instability in Huntington's disease.
T2 103-246 DRI_Challenge denotes Huntington's disease (HD) is a progressive autosomal dominant neurodegenerative disorder caused by a CAG repeat expansion in the HD gene (HTT).
T3 247-382 DRI_Challenge denotes The CAG domain of mutant HTT is unstable upon intergenerational transmission, however, little is known about the underlying mechanisms.
T4 392-544 DRI_Approach denotes From the HD archives of the Leiden University Medical Centre DNA samples from all parent-offspring pairs involving 36 CAG repeats or more were selected.
T5 545-759 DRI_Approach denotes To minimize procedural variability, CAG repeat lengths in both mutant and normal HTT were reassessed using the same standardized protocol, which resulted in the identification of 337 parent-offspring transmissions.
T6 760-945 DRI_Outcome denotes The effects of both parental (mutant and normal CAG repeat size, age and gender) and offspring (gender and season of conception) characteristics on CAG repeat instability were assessed.
T7 955-1140 DRI_Approach denotes Paternal transmissions were often associated with CAG repeat expansion, whereas maternal transmissions mainly resulted in CAG repeat contraction (mean change: +1.76 vs. -0.07, p<0.001).
T8 1141-1281 DRI_Outcome denotes Only in paternal transmissions larger mutant CAG repeat size was associated with a greater degree of CAG repeat expansion (β=0.73; p<0.001).
T9 1282-1451 DRI_Outcome denotes Conversely, only in maternal transmissions larger CAG repeat size of the normal allele was associated with a greater degree of CAG repeat contraction (β=-0.07; p=0.029).
T10 1452-1551 DRI_Background denotes Parental age, offspring gender and season of conception were not related to CAG repeat instability.
T11 1564-1806 DRI_Outcome denotes Our findings suggest a slight maternal contraction bias as opposed to a paternal expansion bias of the mutant HTT CAG repeat during intergenerational transmission, which only in the maternal line is associated with normal HTT CAG repeat size.

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 146-164 HP_0000006 denotes autosomal dominant