PubMed:26774442
Annnotations
PubMed_ArguminSci
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 59-205 | DRI_Approach | denotes | Expanded tandem repeat sequences in DNA are associated with at least 40 human genetic neurological, neurodegenerative, and neuromuscular diseases. |
T2 | 206-368 | DRI_Approach | denotes | Repeat expansion can occur during parent-to-offspring transmission, and arise at variable rates in specific tissues throughout the life of an affected individual. |
T3 | 369-541 | DRI_Challenge | denotes | Since the ongoing somatic repeat expansions can affect disease age-of-onset, severity, and progression, targeting somatic expansion holds potential as a therapeutic target. |
T4 | 542-613 | DRI_Approach | denotes | Thus, understanding the factors that regulate this mutation is crucial. |
T5 | 614-730 | DRI_Background | denotes | DNA repair, in particular mismatch repair (MMR), is the major driving force of disease-associated repeat expansions. |
T6 | 731-869 | DRI_Background | denotes | In contrast to its anti-mutagenic roles, mammalian MMR curiously drives the expansion mutations of disease-associated (CAG)·(CTG) repeats. |
T7 | 870-1144 | DRI_Outcome | denotes | Recent advances have broadened our knowledge of both the MMR proteins involved in disease repeat expansions, including: MSH2, MSH3, MSH6, MLH1, PMS2, and MLH3, as well as the types of repeats affected by MMR, now including: (CAG)·(CTG), (CGG)·(CCG), and (GAA)·(TTC) repeats. |
T8 | 1145-1315 | DRI_Background | denotes | Mutagenic slipped-DNA structures have been detected in patient tissues, and the size of the slip-out and their junction conformation can determine the involvement of MMR. |
T9 | 1316-1445 | DRI_Background | denotes | Furthermore, the formation of other unusual DNA and R-loop structures is proposed to play a key role in MMR-mediated instability. |
T10 | 1446-1568 | DRI_Outcome | denotes | A complex correlation is emerging between tissues showing varying amounts of repeat instability and MMR expression levels. |
T11 | 1569-1786 | DRI_Approach | denotes | Notably, naturally occurring polymorphic variants of DNA repair genes can have dramatic effects upon the levels of repeat instability, which may explain the variation in disease age-of-onset, progression and severity. |
T12 | 1787-1867 | DRI_Challenge | denotes | An increasing grasp of these factors holds prognostic and therapeutic potential. |
c_corpus
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 0-7 | D004194 | denotes | Disease |
T2 | 0-7 | D004194 | denotes | Disease |
T3 | 19-25 | SO:0001068 | denotes | repeat |
T4 | 42-57 | GO:0006298 | denotes | mismatch repair |
T5 | 68-74 | 37565 | denotes | tandem |
T7 | 68-81 | SO:0000705 | denotes | tandem repeat |
T11 | 95-98 | SO:0000352 | denotes | DNA |
T10 | 95-98 | CHEBI:16991 | denotes | DNA |
T12 | 95-98 | D004247 | denotes | DNA |
T9 | 95-98 | GO:0005574 | denotes | DNA |
T13 | 131-136 | D006801 | denotes | human |
T14 | 159-176 | D019636 | denotes | neurodegenerative |
T15 | 159-176 | D019636 | denotes | neurodegenerative |
T18 | 182-204 | D009468 | denotes | neuromuscular diseases |
T19 | 182-204 | D009468 | denotes | neuromuscular diseases |
T20 | 395-401 | SO:0001068 | denotes | repeat |
T21 | 424-431 | D004194 | denotes | disease |
T22 | 424-431 | D004194 | denotes | disease |
T23 | 593-601 | SO:0000109 | denotes | mutation |
T26 | 614-617 | SO:0000352 | denotes | DNA |
T24 | 614-617 | GO:0005574 | denotes | DNA |
T25 | 614-617 | CHEBI:16991 | denotes | DNA |
T27 | 614-617 | D004247 | denotes | DNA |
T28 | 614-624 | GO:0006281 | denotes | DNA repair |
T29 | 640-655 | GO:0006298 | denotes | mismatch repair |
T30 | 657-660 | GO:0006298 | denotes | MMR |
T31 | 657-660 | CVCL_E779 | denotes | MMR |
T32 | 657-660 | P22897 | denotes | MMR |
T33 | 657-660 | PR:000002972 | denotes | MMR |
T34 | 657-660 | Q61830 | denotes | MMR |
T35 | 693-700 | D004194 | denotes | disease |
T36 | 693-700 | D004194 | denotes | disease |
T37 | 712-718 | SO:0001068 | denotes | repeat |
T40 | 782-785 | P22897 | denotes | MMR |
T41 | 782-785 | PR:000002972 | denotes | MMR |
T42 | 782-785 | Q61830 | denotes | MMR |
T39 | 782-785 | CVCL_E779 | denotes | MMR |
T38 | 782-785 | GO:0006298 | denotes | MMR |
T43 | 830-837 | D004194 | denotes | disease |
T44 | 830-837 | D004194 | denotes | disease |
T45 | 850-853 | CVCL_D569 | denotes | CAG |
T46 | 927-930 | GO:0006298 | denotes | MMR |
T48 | 927-930 | P22897 | denotes | MMR |
T49 | 927-930 | PR:000002972 | denotes | MMR |
T50 | 927-930 | Q61830 | denotes | MMR |
T47 | 927-930 | CVCL_E779 | denotes | MMR |
T51 | 931-939 | CHEBI:36080 | denotes | proteins |
T52 | 952-959 | D004194 | denotes | disease |
T53 | 952-959 | D004194 | denotes | disease |
T54 | 960-966 | SO:0001068 | denotes | repeat |
T56 | 990-993 | CHEBI:16768 | denotes | MSH |
T60 | 990-993 | D009074 | denotes | MSH |
T61 | 990-993 | D009074 | denotes | MSH |
T62 | 990-994 | PR:000010666 | denotes | MSH2 |
T63 | 990-994 | PR:P25847 | denotes | MSH2 |
T64 | 990-994 | PR:P43246 | denotes | MSH2 |
T65 | 990-994 | P22711 | denotes | MSH2 |
T66 | 990-994 | PR:P22711 | denotes | MSH2 |
T67 | 990-994 | PR:P54275 | denotes | MSH2 |
T68 | 990-994 | PR:O74773 | denotes | MSH2 |
T69 | 990-994 | PR:P43247 | denotes | MSH2 |
T70 | 990-994 | PR:Q553L4 | denotes | MSH2 |
T71 | 990-994 | PR:O24617 | denotes | MSH2 |
T73 | 996-999 | CHEBI:16768 | denotes | MSH |
T77 | 996-999 | D009074 | denotes | MSH |
T78 | 996-999 | D009074 | denotes | MSH |
T79 | 996-1000 | PR:O65607 | denotes | MSH3 |
T80 | 996-1000 | PR:000010667 | denotes | MSH3 |
T81 | 996-1000 | PR:Q59Y41 | denotes | MSH3 |
T82 | 996-1000 | PR:P25336 | denotes | MSH3 |
T83 | 996-1000 | PR:P20585 | denotes | MSH3 |
T84 | 996-1000 | PR:P26359 | denotes | MSH3 |
T85 | 996-1000 | PR:P13705 | denotes | MSH3 |
T86 | 996-1000 | PR:Q1ZXH0 | denotes | MSH3 |
T88 | 1002-1005 | CHEBI:16768 | denotes | MSH |
T92 | 1002-1005 | D009074 | denotes | MSH |
T93 | 1002-1005 | D009074 | denotes | MSH |
T94 | 1002-1006 | PR:P52701 | denotes | MSH6 |
T95 | 1002-1006 | PR:P54276 | denotes | MSH6 |
T96 | 1002-1006 | PR:Q9VUM0 | denotes | MSH6 |
T97 | 1002-1006 | PR:Q55GU9 | denotes | MSH6 |
T98 | 1002-1006 | PR:O04716 | denotes | MSH6 |
T99 | 1002-1006 | PR:Q03834 | denotes | MSH6 |
T100 | 1002-1006 | PR:O74502 | denotes | MSH6 |
T101 | 1002-1006 | PR:000010670 | denotes | MSH6 |
T102 | 1008-1012 | PR:Q9ZRV4 | denotes | MLH1 |
T103 | 1008-1012 | PR:P38920 | denotes | MLH1 |
T104 | 1008-1012 | PR:Q54KD8 | denotes | MLH1 |
T106 | 1008-1012 | PR:Q9JK91 | denotes | MLH1 |
T107 | 1008-1012 | PR:P97679 | denotes | MLH1 |
T108 | 1008-1012 | PR:Q9P7W6 | denotes | MLH1 |
T109 | 1008-1012 | PR:000010442 | denotes | MLH1 |
T110 | 1008-1012 | PR:P40692 | denotes | MLH1 |
T105 | 1008-1012 | CVCL_G669 | denotes | MLH1 |
T111 | 1014-1017 | CHEBI:53396 | denotes | PMS |
T114 | 1014-1017 | CHEBI:53430 | denotes | PMS |
T116 | 1014-1017 | CHEBI:8055 | denotes | PMS |
T117 | 1014-1018 | PR:P54279 | denotes | PMS2 |
T118 | 1014-1018 | PR:F1NQJ3 | denotes | PMS2 |
T119 | 1014-1018 | PR:P38920 | denotes | PMS2 |
T120 | 1014-1018 | PR:000012914 | denotes | PMS2 |
T121 | 1014-1018 | PR:P54278 | denotes | PMS2 |
T122 | 1024-1028 | PR:F4JN26 | denotes | MLH3 |
T123 | 1024-1028 | PR:Q12083 | denotes | MLH3 |
T124 | 1024-1028 | PR:000010443 | denotes | MLH3 |
T125 | 1024-1028 | PR:Q9UHC1 | denotes | MLH3 |
T126 | 1074-1077 | GO:0006298 | denotes | MMR |
T128 | 1074-1077 | P22897 | denotes | MMR |
T129 | 1074-1077 | PR:000002972 | denotes | MMR |
T130 | 1074-1077 | Q61830 | denotes | MMR |
T127 | 1074-1077 | CVCL_E779 | denotes | MMR |
T131 | 1095-1098 | CVCL_D569 | denotes | CAG |
T133 | 1114-1117 | PR:Q5XVF0 | denotes | CCG |
T132 | 1114-1117 | CVCL_R838 | denotes | CCG |
T134 | 1125-1128 | PR:Q6P7A9 | denotes | GAA |
T135 | 1125-1128 | PR:000007752 | denotes | GAA |
T136 | 1125-1128 | PR:P10253 | denotes | GAA |
T137 | 1125-1128 | PR:P70699 | denotes | GAA |
T139 | 1125-1128 | PR:Q9MYM4 | denotes | GAA |
T138 | 1125-1128 | CHEBI:144460 | denotes | GAA |
T142 | 1163-1166 | SO:0000352 | denotes | DNA |
T140 | 1163-1166 | GO:0005574 | denotes | DNA |
T141 | 1163-1166 | CHEBI:16991 | denotes | DNA |
T143 | 1163-1166 | D004247 | denotes | DNA |
T145 | 1256-1264 | SO:0000699 | denotes | junction |
T144 | 1256-1264 | UBERON:0007651 | denotes | junction |
T146 | 1311-1314 | GO:0006298 | denotes | MMR |
T147 | 1311-1314 | CVCL_E779 | denotes | MMR |
T148 | 1311-1314 | P22897 | denotes | MMR |
T149 | 1311-1314 | PR:000002972 | denotes | MMR |
T150 | 1311-1314 | Q61830 | denotes | MMR |
T151 | 1333-1342 | GO:0009058 | denotes | formation |
T154 | 1360-1363 | SO:0000352 | denotes | DNA |
T152 | 1360-1363 | GO:0005574 | denotes | DNA |
T153 | 1360-1363 | CHEBI:16991 | denotes | DNA |
T155 | 1360-1363 | D004247 | denotes | DNA |
T156 | 1420-1423 | GO:0006298 | denotes | MMR |
T157 | 1420-1423 | CVCL_E779 | denotes | MMR |
T158 | 1420-1423 | P22897 | denotes | MMR |
T159 | 1420-1423 | PR:000002972 | denotes | MMR |
T160 | 1420-1423 | Q61830 | denotes | MMR |
T161 | 1523-1529 | SO:0001068 | denotes | repeat |
T164 | 1546-1549 | P22897 | denotes | MMR |
T165 | 1546-1549 | PR:000002972 | denotes | MMR |
T166 | 1546-1549 | Q61830 | denotes | MMR |
T163 | 1546-1549 | CVCL_E779 | denotes | MMR |
T162 | 1546-1549 | GO:0006298 | denotes | MMR |
T168 | 1622-1625 | CHEBI:16991 | denotes | DNA |
T170 | 1622-1625 | D004247 | denotes | DNA |
T169 | 1622-1625 | SO:0000352 | denotes | DNA |
T167 | 1622-1625 | GO:0005574 | denotes | DNA |
T171 | 1622-1632 | GO:0006281 | denotes | DNA repair |
T172 | 1684-1690 | SO:0001068 | denotes | repeat |
T173 | 1739-1746 | D004194 | denotes | disease |
T174 | 1739-1746 | D004194 | denotes | disease |