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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-78 Sentence denotes Identification of a dominant negative homeodomain mutation in Rieger syndrome.
TextSentencer_T2 79-150 Sentence denotes Mutations in the PITX2 bicoid-like homeobox gene cause Rieger syndrome.
TextSentencer_T3 151-328 Sentence denotes Rieger syndrome is an autosomal-dominant human disorder characterized by glaucoma as well as dental hypoplasia, mild craniofacial dysmorphism, and umbilical stump abnormalities.
TextSentencer_T4 329-440 Sentence denotes PITX2 has also been implicated in the development of multiple organs and left-right asymmetry in the body plan.
TextSentencer_T5 441-602 Sentence denotes The PITX2 homeodomain has a lysine at position 50, which has been shown to impart the bicoid-type (TAATCC) DNA binding specificity to other homeodomain proteins.
TextSentencer_T6 603-695 Sentence denotes A mutation (K88E), found in a Rieger syndrome patient, changes this lysine to glutamic acid.
TextSentencer_T7 696-789 Sentence denotes We were intrigued by the relatively pronounced phenotypic consequences of this K88E mutation.
TextSentencer_T8 790-1036 Sentence denotes In the initial analyses, the mutant protein appeared to simply be inactive, with essentially no DNA binding and transactivation activities and, unlike the wild type protein, with an inability to synergize with another transcription factor, Pit-1.
TextSentencer_T9 1037-1210 Sentence denotes However, when the K88E DNA was cotransfected with wild type PITX2, analogous to the patient genotype, the K88E mutant suppressed the synergism of wild type PITX2 with Pit-1.
TextSentencer_T10 1211-1409 Sentence denotes In contrast, a different PITX2 homeodomain mutant, T68P, which is also defective in DNA binding, transactivation, and Pit-1 synergism activities, did not suppress the wild type synergism with Pit-1.
TextSentencer_T11 1410-1591 Sentence denotes These results describe the first dominant negative missense mutation in a homeodomain and support a model that may partially explain the phenotypic variation within Rieger syndrome.
T1 0-78 Sentence denotes Identification of a dominant negative homeodomain mutation in Rieger syndrome.
T2 79-150 Sentence denotes Mutations in the PITX2 bicoid-like homeobox gene cause Rieger syndrome.
T3 151-328 Sentence denotes Rieger syndrome is an autosomal-dominant human disorder characterized by glaucoma as well as dental hypoplasia, mild craniofacial dysmorphism, and umbilical stump abnormalities.
T4 329-440 Sentence denotes PITX2 has also been implicated in the development of multiple organs and left-right asymmetry in the body plan.
T5 441-602 Sentence denotes The PITX2 homeodomain has a lysine at position 50, which has been shown to impart the bicoid-type (TAATCC) DNA binding specificity to other homeodomain proteins.
T6 603-695 Sentence denotes A mutation (K88E), found in a Rieger syndrome patient, changes this lysine to glutamic acid.
T7 696-789 Sentence denotes We were intrigued by the relatively pronounced phenotypic consequences of this K88E mutation.
T8 790-1036 Sentence denotes In the initial analyses, the mutant protein appeared to simply be inactive, with essentially no DNA binding and transactivation activities and, unlike the wild type protein, with an inability to synergize with another transcription factor, Pit-1.
T9 1037-1210 Sentence denotes However, when the K88E DNA was cotransfected with wild type PITX2, analogous to the patient genotype, the K88E mutant suppressed the synergism of wild type PITX2 with Pit-1.
T10 1211-1409 Sentence denotes In contrast, a different PITX2 homeodomain mutant, T68P, which is also defective in DNA binding, transactivation, and Pit-1 synergism activities, did not suppress the wild type synergism with Pit-1.
T11 1410-1591 Sentence denotes These results describe the first dominant negative missense mutation in a homeodomain and support a model that may partially explain the phenotypic variation within Rieger syndrome.

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
11301317-5#12#16#geners387906810 615-619 geners387906810 denotes K88E
11301317-5#30#45#diseaseC0265341 633-648 diseaseC0265341 denotes Rieger syndrome
11301317-5#30#45#diseaseC3495488 633-648 diseaseC3495488 denotes Rieger syndrome
12#16#geners38790681030#45#diseaseC0265341 11301317-5#12#16#geners387906810 11301317-5#30#45#diseaseC0265341 associated_with K88E,Rieger syndrome
12#16#geners38790681030#45#diseaseC3495488 11301317-5#12#16#geners387906810 11301317-5#30#45#diseaseC3495488 associated_with K88E,Rieger syndrome

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
11301317-1#17#22#gene5308 96-101 gene5308 denotes PITX2
11301317-1#35#43#gene10660 114-122 gene10660 denotes homeobox
11301317-1#55#70#diseaseC0265341 134-149 diseaseC0265341 denotes Rieger syndrome
11301317-1#55#70#diseaseC3495488 134-149 diseaseC3495488 denotes Rieger syndrome
11301317-1#55#70#diseaseC0265341 134-149 diseaseC0265341 denotes Rieger syndrome
11301317-1#55#70#diseaseC3495488 134-149 diseaseC3495488 denotes Rieger syndrome
17#22#gene530855#70#diseaseC0265341 11301317-1#17#22#gene5308 11301317-1#55#70#diseaseC0265341 associated_with PITX2,Rieger syndrome
17#22#gene530855#70#diseaseC3495488 11301317-1#17#22#gene5308 11301317-1#55#70#diseaseC3495488 associated_with PITX2,Rieger syndrome
17#22#gene530855#70#diseaseC0265341 11301317-1#17#22#gene5308 11301317-1#55#70#diseaseC0265341 associated_with PITX2,Rieger syndrome
17#22#gene530855#70#diseaseC3495488 11301317-1#17#22#gene5308 11301317-1#55#70#diseaseC3495488 associated_with PITX2,Rieger syndrome
35#43#gene1066055#70#diseaseC0265341 11301317-1#35#43#gene10660 11301317-1#55#70#diseaseC0265341 associated_with homeobox,Rieger syndrome
35#43#gene1066055#70#diseaseC3495488 11301317-1#35#43#gene10660 11301317-1#55#70#diseaseC3495488 associated_with homeobox,Rieger syndrome
35#43#gene1066055#70#diseaseC0265341 11301317-1#35#43#gene10660 11301317-1#55#70#diseaseC0265341 associated_with homeobox,Rieger syndrome
35#43#gene1066055#70#diseaseC3495488 11301317-1#35#43#gene10660 11301317-1#55#70#diseaseC3495488 associated_with homeobox,Rieger syndrome

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 224-232 HP:0000501 denotes glaucoma

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 391-397 http://purl.obolibrary.org/obo/UBERON_0000062 denotes organs
PD-UBERON-AE-B_T2 1030-1033 http://purl.obolibrary.org/obo/UBERON_0016566 denotes Pit
PD-UBERON-AE-B_T3 1204-1207 http://purl.obolibrary.org/obo/UBERON_0016566 denotes Pit
PD-UBERON-AE-B_T4 1329-1332 http://purl.obolibrary.org/obo/UBERON_0016566 denotes Pit
PD-UBERON-AE-B_T5 1403-1406 http://purl.obolibrary.org/obo/UBERON_0016566 denotes Pit

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 134-149 ORDO:782 denotes Rieger syndrome
TI1 62-77 ORDO:782 denotes Rieger syndrome
AB2 151-166 ORDO:782 denotes Rieger syndrome
AB3 633-648 ORDO:782 denotes Rieger syndrome
AB4 1575-1590 ORDO:782 denotes Rieger syndrome

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 391-397 http://purl.obolibrary.org/obo/UBERON_0000062 denotes organs
PD-UBERON-AE-B_T2 1030-1033 http://purl.obolibrary.org/obo/UBERON_0016566 denotes Pit
PD-UBERON-AE-B_T3 1204-1207 http://purl.obolibrary.org/obo/UBERON_0016566 denotes Pit
PD-UBERON-AE-B_T4 1329-1332 http://purl.obolibrary.org/obo/UBERON_0016566 denotes Pit
PD-UBERON-AE-B_T5 1403-1406 http://purl.obolibrary.org/obo/UBERON_0016566 denotes Pit

DisGeNET

Id Subject Object Predicate Lexical cue
T0 114-122 gene:10660 denotes homeobox
T1 134-149 disease:C0265341 denotes Rieger syndrome
T2 114-122 gene:10660 denotes homeobox
T3 134-149 disease:C3495488 denotes Rieger syndrome
T4 114-122 gene:10660 denotes homeobox
T5 134-149 disease:C3495489 denotes Rieger syndrome
R1 T0 T1 associated_with homeobox,Rieger syndrome
R2 T2 T3 associated_with homeobox,Rieger syndrome
R3 T4 T5 associated_with homeobox,Rieger syndrome

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 62-77 Disease denotes Rieger syndrome http://purl.obolibrary.org/obo/MONDO_0019187
T2 134-149 Disease denotes Rieger syndrome http://purl.obolibrary.org/obo/MONDO_0019187
T3 151-166 Disease denotes Rieger syndrome http://purl.obolibrary.org/obo/MONDO_0019187
T4 224-232 Disease denotes glaucoma http://purl.obolibrary.org/obo/MONDO_0005041
T5 633-648 Disease denotes Rieger syndrome http://purl.obolibrary.org/obo/MONDO_0019187
T6 1575-1590 Disease denotes Rieger syndrome http://purl.obolibrary.org/obo/MONDO_0019187

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T1 224-232 Phenotype denotes glaucoma HP:0000501

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 192-197 OrganismTaxon denotes human 9606
T2 224-232 OrganismTaxon denotes glaucoma 5882
T3 649-656 OrganismTaxon denotes patient 9606
T4 1121-1128 OrganismTaxon denotes patient 9606