PubMed:11494364
Annnotations
c_corpus
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 18-24 | UBERON:0000479 | denotes | tissue |
T2 | 34-37 | CVCL_D569 | denotes | CAG |
T3 | 38-44 | SO:0001068 | denotes | repeat |
T4 | 67-72 | 10090 | denotes | mouse |
T5 | 67-72 | D051379 | denotes | mouse |
T10 | 95-115 | D006816 | denotes | Huntington's disease |
T11 | 95-115 | D006816 | denotes | Huntington's disease |
T14 | 116-120 | SO:0000704 | denotes | gene |
T15 | 135-142 | D004194 | denotes | disease |
T16 | 135-142 | D004194 | denotes | disease |
T19 | 153-179 | D019636 | denotes | neurodegenerative disorder |
T20 | 153-179 | D019636 | denotes | neurodegenerative disorder |
T21 | 214-217 | CVCL_D569 | denotes | CAG |
T23 | 229-233 | SO:0000147 | denotes | exon |
T22 | 229-233 | PR:P33696 | denotes | exon |
T24 | 246-250 | SO:0000704 | denotes | gene |
T25 | 291-294 | CVCL_D569 | denotes | CAG |
T26 | 331-336 | 10090 | denotes | mouse |
T27 | 331-336 | D051379 | denotes | mouse |
T28 | 359-363 | SO:0000704 | denotes | gene |
T29 | 381-386 | D006801 | denotes | human |
T30 | 387-391 | PR:P33696 | denotes | exon |
T31 | 387-391 | SO:0000147 | denotes | exon |
T32 | 404-408 | SO:0000704 | denotes | gene |
T33 | 430-433 | CVCL_D569 | denotes | CAG |
T34 | 452-460 | CHEBI:36080 | denotes | proteins |
T35 | 473-478 | D006801 | denotes | human |
T36 | 487-491 | PR:P33696 | denotes | exon |
T37 | 487-491 | SO:0000147 | denotes | exon |
T38 | 498-503 | 10090 | denotes | mouse |
T39 | 498-503 | D051379 | denotes | mouse |
T40 | 504-514 | P42858 | denotes | huntingtin |
T41 | 504-514 | P42859 | denotes | huntingtin |
T42 | 504-514 | P51111 | denotes | huntingtin |
T43 | 504-514 | PR:000008840 | denotes | huntingtin |
T44 | 504-514 | P51112 | denotes | huntingtin |
T45 | 545-550 | UBERON:6110636 | denotes | brain |
T46 | 545-550 | UBERON:0000955 | denotes | brain |
T47 | 586-589 | CVCL_D569 | denotes | CAG |
T48 | 590-596 | SO:0001068 | denotes | repeat |
T49 | 679-682 | CVCL_D569 | denotes | CAG |
T50 | 683-689 | SO:0001068 | denotes | repeat |
T51 | 753-757 | PR:000005054 | denotes | mice |
T53 | 753-757 | O89094 | denotes | mice |
T52 | 753-757 | D051379 | denotes | mice |
T54 | 753-757 | 10095 | denotes | mice |
T55 | 771-774 | CVCL_D569 | denotes | CAG |
T56 | 775-781 | SO:0001068 | denotes | repeat |
T57 | 807-811 | PR:000005054 | denotes | mice |
T59 | 807-811 | O89094 | denotes | mice |
T58 | 807-811 | D051379 | denotes | mice |
T60 | 807-811 | 10095 | denotes | mice |
T61 | 862-865 | CVCL_D569 | denotes | CAG |
T62 | 866-872 | SO:0001068 | denotes | repeat |
T63 | 873-878 | 10090 | denotes | mouse |
T64 | 873-878 | D051379 | denotes | mouse |
T65 | 888-891 | CVCL_D569 | denotes | CAG |
T66 | 892-898 | SO:0001068 | denotes | repeat |
T67 | 945-950 | UBERON:0002107 | denotes | liver |
T68 | 952-958 | UBERON:0002113 | denotes | kidney |
T69 | 960-967 | UBERON:0000945 | denotes | stomach |
T70 | 973-978 | UBERON:6110636 | denotes | brain |
T71 | 973-978 | UBERON:0000955 | denotes | brain |
T72 | 994-1004 | UBERON:0002037 | denotes | cerebellum |
T73 | 1021-1025 | PR:000005054 | denotes | mice |
T75 | 1021-1025 | O89094 | denotes | mice |
T74 | 1021-1025 | D051379 | denotes | mice |
T76 | 1021-1025 | 10095 | denotes | mice |
T77 | 1056-1059 | CVCL_D569 | denotes | CAG |
T78 | 1060-1066 | SO:0001068 | denotes | repeat |
T79 | 1108-1113 | 10090 | denotes | mouse |
T80 | 1108-1113 | D051379 | denotes | mouse |
T81 | 1136-1141 | D006801 | denotes | human |
T82 | 1142-1147 | UBERON:6110636 | denotes | brain |
T83 | 1142-1147 | UBERON:0000955 | denotes | brain |
T84 | 1164-1195 | P47819 | denotes | Glial fibrillary acidic protein |
T86 | 1164-1195 | P14136 | denotes | Glial fibrillary acidic protein |
T87 | 1164-1195 | PR:000007939 | denotes | Glial fibrillary acidic protein |
T88 | 1164-1195 | Q28115 | denotes | Glial fibrillary acidic protein |
T89 | 1164-1195 | Q58EE9 | denotes | Glial fibrillary acidic protein |
T90 | 1164-1195 | Q5RA72 | denotes | Glial fibrillary acidic protein |
T92 | 1164-1195 | P03995 | denotes | Glial fibrillary acidic protein |
T93 | 1164-1195 | P48677 | denotes | Glial fibrillary acidic protein |
T85 | 1164-1195 | GO:0045101 | denotes | Glial fibrillary acidic protein |
T94 | 1164-1195 | GO:0045098 | denotes | Glial fibrillary acidic protein |
T91 | 1164-1195 | D005904 | denotes | Glial fibrillary acidic protein |
T99 | 1188-1195 | SO:0000104 | denotes | protein |
T100 | 1197-1201 | P47819 | denotes | GFAP |
T102 | 1197-1201 | P14136 | denotes | GFAP |
T103 | 1197-1201 | PR:P03995 | denotes | GFAP |
T104 | 1197-1201 | PR:000007939 | denotes | GFAP |
T105 | 1197-1201 | PR:P47819 | denotes | GFAP |
T106 | 1197-1201 | Q28115 | denotes | GFAP |
T107 | 1197-1201 | Q58EE9 | denotes | GFAP |
T108 | 1197-1201 | PR:P14136 | denotes | GFAP |
T109 | 1197-1201 | Q5RA72 | denotes | GFAP |
T110 | 1197-1201 | P03995 | denotes | GFAP |
T111 | 1197-1201 | P48677 | denotes | GFAP |
T112 | 1197-1201 | PR:Q58EE9 | denotes | GFAP |
T101 | 1197-1201 | GO:0045101 | denotes | GFAP |
T113 | 1257-1273 | UBERON:0002038 | denotes | substantia nigra |
T114 | 1280-1295 | UBERON:0001875 | denotes | globus pallidus |
T115 | 1306-1314 | UBERON:0002435 | denotes | striatum |
T116 | 1306-1314 | UBERON:0005383 | denotes | striatum |
T118 | 1358-1362 | D051379 | denotes | mice |
T120 | 1358-1362 | 10095 | denotes | mice |
T117 | 1358-1362 | PR:000005054 | denotes | mice |
T119 | 1358-1362 | O89094 | denotes | mice |
T121 | 1381-1400 | GO:0070997 | denotes | neuronal cell death |
T123 | 1406-1409 | CVCL_D569 | denotes | CAG |
T124 | 1410-1416 | SO:0001068 | denotes | repeat |
T125 | 1445-1449 | P47819 | denotes | GFAP |
T127 | 1445-1449 | P14136 | denotes | GFAP |
T128 | 1445-1449 | PR:P03995 | denotes | GFAP |
T129 | 1445-1449 | PR:000007939 | denotes | GFAP |
T130 | 1445-1449 | PR:P47819 | denotes | GFAP |
T131 | 1445-1449 | Q28115 | denotes | GFAP |
T132 | 1445-1449 | Q58EE9 | denotes | GFAP |
T133 | 1445-1449 | PR:P14136 | denotes | GFAP |
T134 | 1445-1449 | Q5RA72 | denotes | GFAP |
T135 | 1445-1449 | P03995 | denotes | GFAP |
T136 | 1445-1449 | P48677 | denotes | GFAP |
T137 | 1445-1449 | PR:Q58EE9 | denotes | GFAP |
T126 | 1445-1449 | GO:0045101 | denotes | GFAP |
T138 | 1473-1478 | 10090 | denotes | mouse |
T139 | 1473-1478 | D051379 | denotes | mouse |
T140 | 1549-1554 | 10090 | denotes | mouse |
T141 | 1549-1554 | D051379 | denotes | mouse |
T142 | 1654-1657 | CVCL_D569 | denotes | CAG |
UseCases_ArguminSci_Discourse
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 0-121 | DRI_Outcome | denotes | Age-dependent and tissue-specific CAG repeat instability occurs in mouse knock-in for a mutant Huntington's disease gene. |
T2 | 122-251 | DRI_Challenge | denotes | Huntington's disease (HD) is a neurodegenerative disorder characterized by the expansion of CAG repeats in exon 1 of the HD gene. |
T3 | 252-442 | DRI_Outcome | denotes | To clarify the instability of expanded CAG repeats in HD patients, an HD model mouse has been generated by gene replacement with human exon 1 of the HD gene with expansion to 77 CAG repeats. |
T4 | 443-574 | DRI_Background | denotes | Chimeric proteins composed of human mutated exon 1 and mouse huntingtin are expressed ubiquitously in brain and peripheral tissues. |
T5 | 575-744 | DRI_Outcome | denotes | One or two CAG repeat expansion was found in litters from paternal transmission, whereas contraction of CAG repeat in litters was observed through maternal transmission. |
T6 | 745-879 | DRI_Outcome | denotes | Elderly mice show greater CAG repeat instability than younger mice, and a unique case was observed of an expanded 97 CAG repeat mouse. |
T7 | 880-1026 | DRI_Challenge | denotes | Somatic CAG repeat instability is particularly pronounced in the liver, kidney, stomach, and brain but not in the cerebellum of 100-week-old mice. |
T8 | 1027-1163 | DRI_Outcome | denotes | The same results of expanded CAG repeat instability as observed in this HD model mouse were confirmed in the human brain of HD patients. |
T9 | 1164-1401 | DRI_Background | denotes | Glial fibrillary acidic protein (GFAP)-positive cells have been found to be increased in the substantia nigra (SN), globus pallidus (GP), and striatum (St) in the brains of 40-week-old affected mice, although without neuronal cell death. |
T10 | 1402-1535 | DRI_Outcome | denotes | The CAG repeat instability and increase in GFAP-positive cells in this mouse model appear to mirror the abnormalities in HD patients. |
T11 | 1536-1666 | DRI_Outcome | denotes | The HD model mouse may therefore have advantages for investigations of molecular mechanisms underlying instability of CAG repeats. |
DisGeNET5_gene_disease
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
11494364-9#43#47#gene2670 | 1445-1449 | gene2670 | denotes | GFAP |
11494364-9#121#123#diseaseC0020179 | 1523-1525 | diseaseC0020179 | denotes | HD |
43#47#gene2670121#123#diseaseC0020179 | 11494364-9#43#47#gene2670 | 11494364-9#121#123#diseaseC0020179 | associated_with | GFAP,HD |