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PubMed:10037723 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
T1 0-85 Sentence denotes The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer.
T2 86-299 Sentence denotes Germline mutations in two human mismatch repair (MMR) genes, hMSH2 and hMLH1, appear to account for approximately 70% of the common cancer susceptibility syndrome hereditary nonpolyposis colorectal cancer (HNPCC).
T3 300-436 Sentence denotes Although the hMLH1 protein has been found to copurify with another MMR protein hPMS2 as a heterodimer, their function in MMR is unknown.
T4 437-529 Sentence denotes In this study, we have identified the physical interaction regions of both hMLH1 with hPMS2.
T5 530-646 Sentence denotes We then examined the effects of hMLH1 missense alterations found in HNPCC kindreds for their interaction with hPMS2.
T6 647-764 Sentence denotes Four of these missense alterations (L574P, K616Delta, R659P, and A681T) displayed >95% reduction in binding to hPMS2.
T7 765-974 Sentence denotes Two additional missense alterations (K618A and K618T) displayed a >85% reduction in binding to hPMS2, whereas three missense alterations (S44F, V506A, and E578G) displayed 25-65% reduction in binding to hPMS2.
T8 975-1193 Sentence denotes Interestingly, two HNPCC missense alterations (Q542L and L582V) contained within the consensus interaction region displayed no effect on interaction with hPMS2, suggesting that they may affect other functions of hMLH1.
T9 1194-1440 Sentence denotes These data confirm that functional deficiencies in the interaction of hMLH1 with hPMS2 are associated with HNPCC as well as suggest that other unknown functional alteration of the human MutL homologues may lead to tumorigenesis in HNPCC kindreds.

Glycosmos6-MAT

Id Subject Object Predicate Lexical cue
T1 72-77 http://purl.obolibrary.org/obo/MAT_0000526 denotes colon

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
10037723-7#47#52#geners63750511 1022-1027 geners63750511 denotes Q542L
10037723-7#57#62#geners63751713 1032-1037 geners63751713 denotes L582V
10037723-7#19#24#diseaseC1333990 994-999 diseaseC1333990 denotes HNPCC
47#52#geners6375051119#24#diseaseC1333990 10037723-7#47#52#geners63750511 10037723-7#19#24#diseaseC1333990 associated_with Q542L,HNPCC
57#62#geners6375171319#24#diseaseC1333990 10037723-7#57#62#geners63751713 10037723-7#19#24#diseaseC1333990 associated_with L582V,HNPCC

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10037723-1#49#52#gene4360 135-138 gene4360 denotes MMR
10037723-1#61#66#gene4436 147-152 gene4436 denotes hMSH2
10037723-1#163#204#diseaseC1333990 249-290 diseaseC1333990 denotes hereditary nonpolyposis colorectal cancer
10037723-1#206#211#diseaseC1333990 292-297 diseaseC1333990 denotes HNPCC
10037723-1#163#204#diseaseC1333990 249-290 diseaseC1333990 denotes hereditary nonpolyposis colorectal cancer
10037723-1#206#211#diseaseC1333990 292-297 diseaseC1333990 denotes HNPCC
10037723-8#70#75#gene4292 1264-1269 gene4292 denotes hMLH1
10037723-8#107#112#diseaseC1333990 1301-1306 diseaseC1333990 denotes HNPCC
10037723-8#214#227#diseaseC0596263 1408-1421 diseaseC0596263 denotes tumorigenesis
10037723-8#231#236#diseaseC1333990 1425-1430 diseaseC1333990 denotes HNPCC
49#52#gene4360163#204#diseaseC1333990 10037723-1#49#52#gene4360 10037723-1#163#204#diseaseC1333990 associated_with MMR,hereditary nonpolyposis colorectal cancer
49#52#gene4360206#211#diseaseC1333990 10037723-1#49#52#gene4360 10037723-1#206#211#diseaseC1333990 associated_with MMR,HNPCC
49#52#gene4360163#204#diseaseC1333990 10037723-1#49#52#gene4360 10037723-1#163#204#diseaseC1333990 associated_with MMR,hereditary nonpolyposis colorectal cancer
49#52#gene4360206#211#diseaseC1333990 10037723-1#49#52#gene4360 10037723-1#206#211#diseaseC1333990 associated_with MMR,HNPCC
61#66#gene4436163#204#diseaseC1333990 10037723-1#61#66#gene4436 10037723-1#163#204#diseaseC1333990 associated_with hMSH2,hereditary nonpolyposis colorectal cancer
61#66#gene4436206#211#diseaseC1333990 10037723-1#61#66#gene4436 10037723-1#206#211#diseaseC1333990 associated_with hMSH2,HNPCC
61#66#gene4436163#204#diseaseC1333990 10037723-1#61#66#gene4436 10037723-1#163#204#diseaseC1333990 associated_with hMSH2,hereditary nonpolyposis colorectal cancer
61#66#gene4436206#211#diseaseC1333990 10037723-1#61#66#gene4436 10037723-1#206#211#diseaseC1333990 associated_with hMSH2,HNPCC
70#75#gene4292107#112#diseaseC1333990 10037723-8#70#75#gene4292 10037723-8#107#112#diseaseC1333990 associated_with hMLH1,HNPCC
70#75#gene4292214#227#diseaseC0596263 10037723-8#70#75#gene4292 10037723-8#214#227#diseaseC0596263 associated_with hMLH1,tumorigenesis
70#75#gene4292231#236#diseaseC1333990 10037723-8#70#75#gene4292 10037723-8#231#236#diseaseC1333990 associated_with hMLH1,HNPCC

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 218-224 HP_0002664 denotes cancer
T2 284-290 HP_0002664 denotes cancer

DisGeNET

Id Subject Object Predicate Lexical cue
T0 135-138 gene:4360 denotes MMR
T1 218-224 disease:C0006826 denotes cancer
T2 135-138 gene:4360 denotes MMR
T3 218-224 disease:C1306459 denotes cancer
T4 135-138 gene:4360 denotes MMR
T5 249-290 disease:C1333990 denotes hereditary nonpolyposis colorectal cancer
T6 135-138 gene:4360 denotes MMR
T7 292-297 disease:C1333990 denotes HNPCC
T8 147-152 gene:4436 denotes hMSH2
T9 218-224 disease:C0006826 denotes cancer
T10 147-152 gene:4436 denotes hMSH2
T11 218-224 disease:C1306459 denotes cancer
T12 147-152 gene:4436 denotes hMSH2
T13 249-290 disease:C1333990 denotes hereditary nonpolyposis colorectal cancer
T14 147-152 gene:4436 denotes hMSH2
T15 292-297 disease:C1333990 denotes HNPCC
T16 157-162 gene:4292 denotes hMLH1
T17 218-224 disease:C0006826 denotes cancer
T18 157-162 gene:4292 denotes hMLH1
T19 218-224 disease:C1306459 denotes cancer
T20 157-162 gene:4292 denotes hMLH1
T21 249-290 disease:C1333990 denotes hereditary nonpolyposis colorectal cancer
T22 157-162 gene:4292 denotes hMLH1
T23 292-297 disease:C1333990 denotes HNPCC
R1 T0 T1 associated_with MMR,cancer
R2 T2 T3 associated_with MMR,cancer
R3 T4 T5 associated_with MMR,hereditary nonpolyposis colorectal cancer
R4 T6 T7 associated_with MMR,HNPCC
R5 T8 T9 associated_with hMSH2,cancer
R6 T10 T11 associated_with hMSH2,cancer
R7 T12 T13 associated_with hMSH2,hereditary nonpolyposis colorectal cancer
R8 T14 T15 associated_with hMSH2,HNPCC
R9 T16 T17 associated_with hMLH1,cancer
R10 T18 T19 associated_with hMLH1,cancer
R11 T20 T21 associated_with hMLH1,hereditary nonpolyposis colorectal cancer
R12 T22 T23 associated_with hMLH1,HNPCC

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 48-84 Disease denotes hereditary nonpolyposis colon cancer http://purl.obolibrary.org/obo/MONDO_0018630
T2 218-224 Disease denotes cancer http://purl.obolibrary.org/obo/MONDO_0004992
T3 249-290 Disease denotes hereditary nonpolyposis colorectal cancer http://purl.obolibrary.org/obo/MONDO_0018630
T4 292-297 Disease denotes HNPCC http://purl.obolibrary.org/obo/MONDO_0018630|http://purl.obolibrary.org/obo/MONDO_0005835
T6 598-603 Disease denotes HNPCC http://purl.obolibrary.org/obo/MONDO_0018630|http://purl.obolibrary.org/obo/MONDO_0005835
T8 994-999 Disease denotes HNPCC http://purl.obolibrary.org/obo/MONDO_0018630|http://purl.obolibrary.org/obo/MONDO_0005835
T10 1301-1306 Disease denotes HNPCC http://purl.obolibrary.org/obo/MONDO_0018630|http://purl.obolibrary.org/obo/MONDO_0005835
T12 1425-1430 Disease denotes HNPCC http://purl.obolibrary.org/obo/MONDO_0018630|http://purl.obolibrary.org/obo/MONDO_0005835

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 23-28 OrganismTaxon denotes human 9606
T2 112-117 OrganismTaxon denotes human 9606
T3 1374-1379 OrganismTaxon denotes human 9606

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 72-77 Body_part denotes colon http://purl.obolibrary.org/obo/UBERON_0001155

Anatomy-MAT

Id Subject Object Predicate Lexical cue mat_id
T1 72-77 Body_part denotes colon http://purl.obolibrary.org/obo/MAT_0000526

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T1 72-84 Phenotype denotes colon cancer HP:0003003
T2 218-224 Phenotype denotes cancer HP:0002664
T3 273-290 Phenotype denotes colorectal cancer HP:0003003