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PubMed:26994442 JSONTXT

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PubMed_ArguminSci

Id Subject Object Predicate Lexical cue
T1 184-396 DRI_Outcome denotes Somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 is age-dependent, tissue-specific and expansion-biased, contributing toward the tissue-specificity and progressive nature of the symptoms.
T2 397-637 DRI_Approach denotes Previously, using regression modelling of repeat instability we showed that variation in the rate of somatic expansion in blood DNA contributes toward variation in age of onset, directly implicating somatic expansion in the disease pathway.
T3 638-745 DRI_Outcome denotes Here, we confirm these results using a larger more genetically homogenous Costa Rican DM1 cohort (p<0.001).
T4 746-905 DRI_Outcome denotes Interestingly, we also provide evidence that supports subtle sex-dependent differences in repeat length-dependent age at onset and somatic mutational dynamics.
T5 906-1017 DRI_Outcome denotes Previously, we demonstrated that variation in the rate of somatic expansion was a heritable quantitative trait.
T6 1018-1254 DRI_Outcome denotes Given the important role that DNA mismatch repair genes play in mediating expansions in mouse models, we tested for modifier gene effects with 13 DNA mismatch gene polymorphisms (one each in MSH2, PMS2, MSH6 and MLH1; and nine in MSH3).
T7 1255-1471 DRI_Background denotes After correcting for allele length and age effects, we identified three polymorphisms in MSH3 that were associated with variation in somatic instability: Rs26279 (p=0.003); Rs1677658 (p=0.009); and Rs10168 (p=0.031).
T8 1472-1570 DRI_Approach denotes However, only the association with Rs26279 remained significant after multiple testing correction.
T9 1571-1728 DRI_Outcome denotes Although we revealed a statistically significant association between Rs26279 and somatic instability, we did not detect an association with the age at onset.
T10 1729-1857 DRI_Outcome denotes Individuals with the A/A genotype for Rs26279 tended to show a greater propensity to expand the CTG repeat than other genotypes.
T11 1858-1994 DRI_Outcome denotes Interestingly, this SNP results in an amino acid change in the critical ATPase domain of MSH3 and is potentially functionally dimorphic.
T12 1995-2149 DRI_Challenge denotes These data suggest that MSH3 is a key player in generating somatic variation in DM1 patients and further highlight MSH3 as a potential therapeutic target.

c_corpus

Id Subject Object Predicate Lexical cue
T2 22-25 CHEBI:16768 denotes MSH
T6 22-25 D009074 denotes MSH
T7 22-25 D009074 denotes MSH
T8 22-26 PR:O65607 denotes MSH3
T9 22-26 PR:000010667 denotes MSH3
T10 22-26 PR:Q59Y41 denotes MSH3
T11 22-26 PR:P25336 denotes MSH3
T12 22-26 PR:P20585 denotes MSH3
T13 22-26 PR:P26359 denotes MSH3
T14 22-26 PR:P13705 denotes MSH3
T15 22-26 PR:Q1ZXH0 denotes MSH3
T16 27-42 GO:0006298 denotes mismatch repair
T17 43-47 SO:0000704 denotes gene
T18 121-127 SO:0001068 denotes repeat
T21 141-144 SO:0000352 denotes DNA
T20 141-144 CHEBI:16991 denotes DNA
T22 141-144 D004247 denotes DNA
T19 141-144 GO:0005574 denotes DNA
T23 148-166 D009223 denotes myotonic dystrophy
T24 148-166 D009223 denotes myotonic dystrophy
T25 222-228 SO:0001068 denotes repeat
T26 232-250 D009223 denotes myotonic dystrophy
T27 232-250 D009223 denotes myotonic dystrophy
T28 276-282 UBERON:0000479 denotes tissue
T29 338-344 UBERON:0000479 denotes tissue
T30 439-445 SO:0001068 denotes repeat
T31 525-528 GO:0005574 denotes DNA
T33 525-528 SO:0000352 denotes DNA
T32 525-528 CHEBI:16991 denotes DNA
T34 525-528 D004247 denotes DNA
T35 621-628 D004194 denotes disease
T36 621-628 D004194 denotes disease
T37 629-636 CHEBI:34922 denotes pathway
T39 724-727 CVCL_Z231 denotes DM1
T41 724-727 CVCL_Y325 denotes DM1
T40 724-727 CHEBI:82755 denotes DM1
T38 724-727 D009223 denotes DM1
T42 728-734 CHEBI:34935 denotes cohort
T43 836-842 SO:0001068 denotes repeat
T46 1048-1051 SO:0000352 denotes DNA
T44 1048-1051 GO:0005574 denotes DNA
T45 1048-1051 CHEBI:16991 denotes DNA
T47 1048-1051 D004247 denotes DNA
T48 1052-1067 GO:0006298 denotes mismatch repair
T49 1106-1111 10090 denotes mouse
T50 1106-1111 D051379 denotes mouse
T51 1143-1147 SO:0000704 denotes gene
T54 1164-1167 SO:0000352 denotes DNA
T52 1164-1167 GO:0005574 denotes DNA
T53 1164-1167 CHEBI:16991 denotes DNA
T55 1164-1167 D004247 denotes DNA
T56 1177-1181 SO:0000704 denotes gene
T58 1209-1212 CHEBI:16768 denotes MSH
T62 1209-1212 D009074 denotes MSH
T63 1209-1212 D009074 denotes MSH
T64 1209-1213 PR:000010666 denotes MSH2
T65 1209-1213 PR:P25847 denotes MSH2
T66 1209-1213 PR:P43246 denotes MSH2
T67 1209-1213 P22711 denotes MSH2
T68 1209-1213 PR:P22711 denotes MSH2
T69 1209-1213 PR:P54275 denotes MSH2
T70 1209-1213 PR:O74773 denotes MSH2
T71 1209-1213 PR:P43247 denotes MSH2
T72 1209-1213 PR:Q553L4 denotes MSH2
T73 1209-1213 PR:O24617 denotes MSH2
T74 1215-1218 CHEBI:53396 denotes PMS
T77 1215-1218 CHEBI:53430 denotes PMS
T79 1215-1218 CHEBI:8055 denotes PMS
T80 1215-1219 PR:P54279 denotes PMS2
T81 1215-1219 PR:F1NQJ3 denotes PMS2
T82 1215-1219 PR:P38920 denotes PMS2
T83 1215-1219 PR:000012914 denotes PMS2
T84 1215-1219 PR:P54278 denotes PMS2
T86 1221-1224 CHEBI:16768 denotes MSH
T90 1221-1224 D009074 denotes MSH
T91 1221-1224 D009074 denotes MSH
T92 1221-1225 PR:P52701 denotes MSH6
T93 1221-1225 PR:P54276 denotes MSH6
T94 1221-1225 PR:Q9VUM0 denotes MSH6
T95 1221-1225 PR:Q55GU9 denotes MSH6
T96 1221-1225 PR:O04716 denotes MSH6
T97 1221-1225 PR:Q03834 denotes MSH6
T98 1221-1225 PR:O74502 denotes MSH6
T99 1221-1225 PR:000010670 denotes MSH6
T100 1230-1234 PR:Q9ZRV4 denotes MLH1
T101 1230-1234 PR:P38920 denotes MLH1
T102 1230-1234 PR:Q54KD8 denotes MLH1
T104 1230-1234 PR:Q9JK91 denotes MLH1
T105 1230-1234 PR:P97679 denotes MLH1
T106 1230-1234 PR:Q9P7W6 denotes MLH1
T107 1230-1234 PR:000010442 denotes MLH1
T108 1230-1234 PR:P40692 denotes MLH1
T103 1230-1234 CVCL_G669 denotes MLH1
T110 1248-1251 CHEBI:16768 denotes MSH
T114 1248-1251 D009074 denotes MSH
T115 1248-1251 D009074 denotes MSH
T116 1248-1252 PR:O65607 denotes MSH3
T117 1248-1252 PR:000010667 denotes MSH3
T118 1248-1252 PR:Q59Y41 denotes MSH3
T119 1248-1252 PR:P25336 denotes MSH3
T120 1248-1252 PR:P20585 denotes MSH3
T121 1248-1252 PR:P26359 denotes MSH3
T122 1248-1252 PR:P13705 denotes MSH3
T123 1248-1252 PR:Q1ZXH0 denotes MSH3
T124 1276-1282 SO:0001023 denotes allele
T126 1344-1347 CHEBI:16768 denotes MSH
T130 1344-1347 D009074 denotes MSH
T131 1344-1347 D009074 denotes MSH
T132 1344-1348 PR:O65607 denotes MSH3
T133 1344-1348 PR:000010667 denotes MSH3
T134 1344-1348 PR:Q59Y41 denotes MSH3
T135 1344-1348 PR:P25336 denotes MSH3
T136 1344-1348 PR:P20585 denotes MSH3
T137 1344-1348 PR:P26359 denotes MSH3
T138 1344-1348 PR:P13705 denotes MSH3
T139 1344-1348 PR:Q1ZXH0 denotes MSH3
T140 1754-1762 SO:0001027 denotes genotype
T141 1829-1835 SO:0001068 denotes repeat
T143 1878-1881 P86981 denotes SNP
T142 1878-1881 CVCL_IP76 denotes SNP
T144 1878-1881 SO:0000694 denotes SNP
T147 1896-1906 SO:0001237 denotes amino acid
T146 1896-1906 CHEBI:33704 denotes amino acid
T148 1896-1906 CHEBI:33709 denotes amino acid
T150 1930-1936 A3DIJ8 denotes ATPase
T152 1930-1936 Q9SIY3 denotes ATPase
T151 1930-1936 D000251 denotes ATPase
T153 1937-1943 SO:0000417 denotes domain
T155 1947-1950 CHEBI:16768 denotes MSH
T159 1947-1950 D009074 denotes MSH
T160 1947-1950 D009074 denotes MSH
T161 1947-1951 PR:O65607 denotes MSH3
T162 1947-1951 PR:000010667 denotes MSH3
T163 1947-1951 PR:Q59Y41 denotes MSH3
T164 1947-1951 PR:P25336 denotes MSH3
T165 1947-1951 PR:P20585 denotes MSH3
T166 1947-1951 PR:P26359 denotes MSH3
T167 1947-1951 PR:P13705 denotes MSH3
T168 1947-1951 PR:Q1ZXH0 denotes MSH3
T170 2019-2022 CHEBI:16768 denotes MSH
T174 2019-2022 D009074 denotes MSH
T175 2019-2022 D009074 denotes MSH
T176 2019-2023 PR:O65607 denotes MSH3
T177 2019-2023 PR:000010667 denotes MSH3
T178 2019-2023 PR:Q59Y41 denotes MSH3
T179 2019-2023 PR:P25336 denotes MSH3
T180 2019-2023 PR:P20585 denotes MSH3
T181 2019-2023 PR:P26359 denotes MSH3
T182 2019-2023 PR:P13705 denotes MSH3
T183 2019-2023 PR:Q1ZXH0 denotes MSH3
T185 2075-2078 CVCL_Z231 denotes DM1
T187 2075-2078 CVCL_Y325 denotes DM1
T186 2075-2078 CHEBI:82755 denotes DM1
T184 2075-2078 D009223 denotes DM1
T189 2110-2113 CHEBI:16768 denotes MSH
T193 2110-2113 D009074 denotes MSH
T194 2110-2113 D009074 denotes MSH
T195 2110-2114 PR:O65607 denotes MSH3
T196 2110-2114 PR:000010667 denotes MSH3
T197 2110-2114 PR:Q59Y41 denotes MSH3
T198 2110-2114 PR:P25336 denotes MSH3
T199 2110-2114 PR:P20585 denotes MSH3
T200 2110-2114 PR:P26359 denotes MSH3
T201 2110-2114 PR:P13705 denotes MSH3
T202 2110-2114 PR:Q1ZXH0 denotes MSH3

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
26994442-0#22#26#gene4437 22-26 gene4437 denotes MSH3
26994442-0#148#166#diseaseC0027126 148-166 diseaseC0027126 denotes myotonic dystrophy
26994442-12#24#28#gene4437 2019-2023 gene4437 denotes MSH3
26994442-12#115#119#gene4437 2110-2114 gene4437 denotes MSH3
26994442-12#80#83#diseaseC3250443 2075-2078 diseaseC3250443 denotes DM1
22#26#gene4437148#166#diseaseC0027126 26994442-0#22#26#gene4437 26994442-0#148#166#diseaseC0027126 associated_with MSH3,myotonic dystrophy
24#28#gene443780#83#diseaseC3250443 26994442-12#24#28#gene4437 26994442-12#80#83#diseaseC3250443 associated_with MSH3,DM1
115#119#gene443780#83#diseaseC3250443 26994442-12#115#119#gene4437 26994442-12#80#83#diseaseC3250443 associated_with MSH3,DM1