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PubMed:7592627 JSONTXT

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Glycosmos6-MAT

Id Subject Object Predicate Lexical cue
T1 224-229 http://purl.obolibrary.org/obo/MAT_0000083 denotes blood
T2 224-229 http://purl.obolibrary.org/obo/MAT_0000315 denotes blood

DisGeNET

Id Subject Object Predicate Lexical cue
T0 50-59 gene:5555 denotes protein C
T1 83-103 disease:C0398625 denotes protein C deficiency
T2 50-59 gene:5554 denotes protein C
T3 83-103 disease:C0398625 denotes protein C deficiency
R1 T0 T1 associated_with protein C,protein C deficiency
R2 T2 T3 associated_with protein C,protein C deficiency

DisGeNet-2017-sample

Id Subject Object Predicate Lexical cue
T2657 50-59 gene:5554 denotes protein C
T2658 83-103 disease:C0398625 denotes protein C deficiency
R1 T2657 T2658 associated_with protein C,protein C deficiency
R2 T2657 T2658 associated_with protein C,protein C deficiency

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-145 Sentence denotes Two mutations in the promoter region of the human protein C gene both cause type I protein C deficiency by disruption of two HNF-3 binding sites.
TextSentencer_T2 146-298 Sentence denotes Protein C is a vitamin K-dependent zymogen of a serine protease that inhibits blood coagulation by the proteolytic inactivation of factors Va and VIIIa.
TextSentencer_T3 299-373 Sentence denotes Individuals affected with protein C deficiency are at risk for thrombosis.
TextSentencer_T4 374-583 Sentence denotes Genetic analyses of affected individuals, to determine the cause of the protein C deficiency, revealed a large variety of mutations in the protein C gene, including several in the promoter region of this gene.
TextSentencer_T5 584-794 Sentence denotes Comparison of the region around two of these mutations, A-32-->G and T-27-->A, with transcription factor consensus sequences suggested the presence of two overlapping and inversely oriented HNF-3 binding sites.
TextSentencer_T6 795-975 Sentence denotes Direct evidence for the presence of the two HNF-3 binding sites in the protein C promoter was obtained using electrophoretic mobility shift assays and UV cross-linking experiments.
TextSentencer_T7 976-1101 Sentence denotes These experiments revealed that HNF-3 can bind specifically to both putative HNF-3 sites in the wild-type protein C promoter.
TextSentencer_T8 1102-1244 Sentence denotes Due to the T-27-->A mutation, one binding site is completely lost, while the other site still binds HNF-3, but with strongly reduced affinity.
TextSentencer_T9 1245-1348 Sentence denotes As a consequence of the A-32-->G mutation, the protein C promoter loses all its HNF-3 binding capacity.
TextSentencer_T10 1349-1482 Sentence denotes Transient transfection experiments demonstrated that the binding of HNF-3 to the protein C promoter is of physiological significance.
TextSentencer_T11 1483-1641 Sentence denotes This followed from experiments in which the introduction of the A-32-->G or T-27-->A mutation resulted in a 4-5-fold reduced promoter activity in HepG2 cells.
TextSentencer_T12 1642-1789 Sentence denotes Furthermore, transactivation of the wild-type protein C promoter construct with HNF-3 showed a 4-5-fold increased promoter activity in HepG2 cells.
TextSentencer_T13 1790-1896 Sentence denotes In HeLa cells, significant wild-type promoter activity was only observed after transactivation with HNF-3.
TextSentencer_T14 1897-2107 Sentence denotes When a promoter construct containing the T-->A mutation at position -27 was used, the transactivation potential of HNF-3 was 2-fold reduced in HepG2 cells, whereas in HeLa cells no transactivation was observed.
TextSentencer_T15 2108-2241 Sentence denotes With the promoter construct containing the A-32-->G mutation, no transactivation by HNF-3 was found either in HepG2 or in HeLa cells.
T1 0-145 Sentence denotes Two mutations in the promoter region of the human protein C gene both cause type I protein C deficiency by disruption of two HNF-3 binding sites.
T2 146-298 Sentence denotes Protein C is a vitamin K-dependent zymogen of a serine protease that inhibits blood coagulation by the proteolytic inactivation of factors Va and VIIIa.
T3 299-373 Sentence denotes Individuals affected with protein C deficiency are at risk for thrombosis.
T4 374-583 Sentence denotes Genetic analyses of affected individuals, to determine the cause of the protein C deficiency, revealed a large variety of mutations in the protein C gene, including several in the promoter region of this gene.
T5 584-794 Sentence denotes Comparison of the region around two of these mutations, A-32-->G and T-27-->A, with transcription factor consensus sequences suggested the presence of two overlapping and inversely oriented HNF-3 binding sites.
T6 795-975 Sentence denotes Direct evidence for the presence of the two HNF-3 binding sites in the protein C promoter was obtained using electrophoretic mobility shift assays and UV cross-linking experiments.
T7 976-1101 Sentence denotes These experiments revealed that HNF-3 can bind specifically to both putative HNF-3 sites in the wild-type protein C promoter.
T8 1102-1244 Sentence denotes Due to the T-27-->A mutation, one binding site is completely lost, while the other site still binds HNF-3, but with strongly reduced affinity.
T9 1245-1348 Sentence denotes As a consequence of the A-32-->G mutation, the protein C promoter loses all its HNF-3 binding capacity.
T10 1349-1482 Sentence denotes Transient transfection experiments demonstrated that the binding of HNF-3 to the protein C promoter is of physiological significance.
T11 1483-1641 Sentence denotes This followed from experiments in which the introduction of the A-32-->G or T-27-->A mutation resulted in a 4-5-fold reduced promoter activity in HepG2 cells.
T12 1642-1789 Sentence denotes Furthermore, transactivation of the wild-type protein C promoter construct with HNF-3 showed a 4-5-fold increased promoter activity in HepG2 cells.
T13 1790-1896 Sentence denotes In HeLa cells, significant wild-type promoter activity was only observed after transactivation with HNF-3.
T14 1897-2107 Sentence denotes When a promoter construct containing the T-->A mutation at position -27 was used, the transactivation potential of HNF-3 was 2-fold reduced in HepG2 cells, whereas in HeLa cells no transactivation was observed.
T15 2108-2241 Sentence denotes With the promoter construct containing the A-32-->G mutation, no transactivation by HNF-3 was found either in HepG2 or in HeLa cells.

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 224-229 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 224-229 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 83-103 Disease denotes protein C deficiency http://purl.obolibrary.org/obo/MONDO_0019145
T2 325-345 Disease denotes protein C deficiency http://purl.obolibrary.org/obo/MONDO_0019145
T3 362-372 Disease denotes thrombosis http://purl.obolibrary.org/obo/MONDO_0000831
T4 446-466 Disease denotes protein C deficiency http://purl.obolibrary.org/obo/MONDO_0019145

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 44-49 OrganismTaxon denotes human 9606

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 224-229 Body_part denotes blood http://purl.obolibrary.org/obo/UBERON_0000178

Anatomy-MAT

Id Subject Object Predicate Lexical cue mat_id
T1 224-229 Body_part denotes blood http://purl.obolibrary.org/obo/MAT_0000083|http://purl.obolibrary.org/obo/MAT_0000315