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PubMed:18397285 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-179 Sentence denotes L1503R is a member of group I mutation and has dominant-negative effect on secretion of full-length VWF multimers: an analysis of two patients with type 2A von Willebrand disease.
TextSentencer_T2 180-385 Sentence denotes Type 2A von Willebrand disease (VWD) is characterized by decreased platelet-dependent function of von Willebrand factor (VWF); this in turn is associated with an absence of high-molecular-weight multimers.
TextSentencer_T3 386-601 Sentence denotes Sequence analysis of the VWF gene from two unrelated type 2A VWD patients showed an identical, novel, heterozygous T-->G transversion at nucleotide 4508, resulting in the substitution of L1503R in the VWF A2 domain.
TextSentencer_T4 602-761 Sentence denotes This substitution, which was not found in 60 unrelated normal individuals, was introduced into a full-length VWF cDNA and subsequently expressed in 293T cells.
TextSentencer_T5 762-867 Sentence denotes Only trace amount of the mutant VWF protein was secreted but most of the same was retained in 293T cells.
TextSentencer_T6 868-1130 Sentence denotes Co-transfection experiment of both wild-type and mutant plasmids indicated the dominant-negative mechanism of disease development; as more of mutant DNA was transfected, VWF secretion was impaired in the media, whereas more of VWF was stored in the cell lysates.
TextSentencer_T7 1131-1431 Sentence denotes Molecular dynamic simulations of structural changes induced by L1503R indicated that the mean value of all-atom root-mean-squared-deviation was shifted from those with wild type or another mutation L1503Q that has been reported to be a group II mutation, which is susceptible to ADAMTS13 proteolysis.
TextSentencer_T8 1432-1648 Sentence denotes Protein instability of L1503R may be responsible for its intracellular retention and perhaps the larger VWF multimers, containing more mutant VWF subunits, are likely to be mal-processed and retained within the cell.
T1 0-179 Sentence denotes L1503R is a member of group I mutation and has dominant-negative effect on secretion of full-length VWF multimers: an analysis of two patients with type 2A von Willebrand disease.
T2 180-385 Sentence denotes Type 2A von Willebrand disease (VWD) is characterized by decreased platelet-dependent function of von Willebrand factor (VWF); this in turn is associated with an absence of high-molecular-weight multimers.
T3 386-601 Sentence denotes Sequence analysis of the VWF gene from two unrelated type 2A VWD patients showed an identical, novel, heterozygous T-->G transversion at nucleotide 4508, resulting in the substitution of L1503R in the VWF A2 domain.
T4 602-761 Sentence denotes This substitution, which was not found in 60 unrelated normal individuals, was introduced into a full-length VWF cDNA and subsequently expressed in 293T cells.
T5 762-867 Sentence denotes Only trace amount of the mutant VWF protein was secreted but most of the same was retained in 293T cells.
T6 868-1130 Sentence denotes Co-transfection experiment of both wild-type and mutant plasmids indicated the dominant-negative mechanism of disease development; as more of mutant DNA was transfected, VWF secretion was impaired in the media, whereas more of VWF was stored in the cell lysates.
T7 1131-1431 Sentence denotes Molecular dynamic simulations of structural changes induced by L1503R indicated that the mean value of all-atom root-mean-squared-deviation was shifted from those with wild type or another mutation L1503Q that has been reported to be a group II mutation, which is susceptible to ADAMTS13 proteolysis.
T8 1432-1648 Sentence denotes Protein instability of L1503R may be responsible for its intracellular retention and perhaps the larger VWF multimers, containing more mutant VWF subunits, are likely to be mal-processed and retained within the cell.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 100-103 gene:7450 denotes VWF
T1 148-178 disease:C1282968 denotes type 2A von Willebrand disease
T2 278-299 gene:7450 denotes von Willebrand factor
T3 212-215 disease:C1282968 denotes VWD
T4 278-299 gene:7450 denotes von Willebrand factor
T5 180-210 disease:C1282968 denotes Type 2A von Willebrand disease
T6 301-304 gene:7450 denotes VWF
T7 180-210 disease:C1282968 denotes Type 2A von Willebrand disease
T8 301-304 gene:7450 denotes VWF
T9 212-215 disease:C1282968 denotes VWD
R1 T0 T1 associated_with VWF,type 2A von Willebrand disease
R2 T2 T3 associated_with von Willebrand factor,VWD
R3 T4 T5 associated_with von Willebrand factor,Type 2A von Willebrand disease
R4 T6 T7 associated_with VWF,Type 2A von Willebrand disease
R5 T8 T9 associated_with VWF,VWD

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
18397285-0#0#6#geners61750097 0-6 geners61750097 denotes L1503R
18397285-0#148#178#diseaseC1282968 148-178 diseaseC1282968 denotes type 2A von Willebrand disease
0#6#geners61750097148#178#diseaseC1282968 18397285-0#0#6#geners61750097 18397285-0#148#178#diseaseC1282968 associated_with L1503R,type 2A von Willebrand disease

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
18397285-0#100#103#gene7450 100-103 gene7450 denotes VWF
18397285-0#148#178#diseaseC1282968 148-178 diseaseC1282968 denotes type 2A von Willebrand disease
100#103#gene7450148#178#diseaseC1282968 18397285-0#100#103#gene7450 18397285-0#148#178#diseaseC1282968 associated_with VWF,type 2A von Willebrand disease

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 188-210 ORDO:903 denotes von Willebrand disease
TI1 156-178 ORDO:903 denotes von Willebrand disease

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 0-6 ProteinMutation:p|SUB|L|1503|R denotes L1503R
T2 501-538 DNAMutation:c|SUB|T|4508|G denotes T-->G transversion at nucleotide 4508
T3 573-579 ProteinMutation:p|SUB|L|1503|R denotes L1503R
T4 1194-1200 ProteinMutation:p|SUB|L|1503|R denotes L1503R
T5 1329-1335 ProteinMutation:p|SUB|L|1503|Q denotes L1503Q
T6 1455-1461 ProteinMutation:p|SUB|L|1503|R denotes L1503R