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PubMed:2572590 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
T1 0-110 Sentence denotes Hereditary alpha 2-plasmin inhibitor deficiency caused by a transport-deficient mutation (alpha 2-PI-Okinawa).
T2 111-189 Sentence denotes Deletion of Glu137 by a trinucleotide deletion blocks intracellular transport.
T3 190-343 Sentence denotes alpha 2-Plasmin inhibitor is the most important physiological inhibitor of fibrinolysis; hence, its deficiency results in a severe hemorrhagic diathesis.
T4 344-466 Sentence denotes We have cloned and characterized a mutant alpha 2-plasmin inhibitor gene from an individual homozygous for the deficiency.
T5 467-629 Sentence denotes By sequencing all the coding exons and exon-intron boundaries of the gene, a trinucleotide deletion in exon VII that results in deletion of Glu137 was identified.
T6 630-699 Sentence denotes We have designated this variant as alpha 2-plasmin inhibitor Okinawa.
T7 700-912 Sentence denotes Using DNA samples amplified with the polymerase chain reaction, hybridization analysis by oligonucleotide probes confirmed the presence of this mutation in all the affected family members, including both parents.
T8 913-1158 Sentence denotes To elucidate the mechanism by which this mutation leads to the deficiency, a eukaryotic expression plasmid for alpha 2-plasmin inhibitor containing this mutation was constructed and transfected into COS-7 cells for transient expression analysis.
T9 1159-1458 Sentence denotes Immunoprecipitation analysis and enzyme-linked immunosorbent assay revealed that the mutant alpha 2-plasmin inhibitor synthesized is mostly retained within the cells as an endoglycosidase H-sensitive form, and only a small portion of it is secreted into the medium as a neuraminidase-sensitive form.
T10 1459-1658 Sentence denotes These results suggest that the Glu137 deletion leads to the alpha 2-plasmin inhibitor deficiency by causing a block in its intracellular transport from the endoplasmic reticulum to the Golgi complex.
T1 0-110 Sentence denotes Hereditary alpha 2-plasmin inhibitor deficiency caused by a transport-deficient mutation (alpha 2-PI-Okinawa).
T2 111-189 Sentence denotes Deletion of Glu137 by a trinucleotide deletion blocks intracellular transport.
T3 190-343 Sentence denotes alpha 2-Plasmin inhibitor is the most important physiological inhibitor of fibrinolysis; hence, its deficiency results in a severe hemorrhagic diathesis.
T4 344-466 Sentence denotes We have cloned and characterized a mutant alpha 2-plasmin inhibitor gene from an individual homozygous for the deficiency.
T5 467-629 Sentence denotes By sequencing all the coding exons and exon-intron boundaries of the gene, a trinucleotide deletion in exon VII that results in deletion of Glu137 was identified.
T6 630-699 Sentence denotes We have designated this variant as alpha 2-plasmin inhibitor Okinawa.
T7 700-912 Sentence denotes Using DNA samples amplified with the polymerase chain reaction, hybridization analysis by oligonucleotide probes confirmed the presence of this mutation in all the affected family members, including both parents.
T8 913-1158 Sentence denotes To elucidate the mechanism by which this mutation leads to the deficiency, a eukaryotic expression plasmid for alpha 2-plasmin inhibitor containing this mutation was constructed and transfected into COS-7 cells for transient expression analysis.
T9 1159-1458 Sentence denotes Immunoprecipitation analysis and enzyme-linked immunosorbent assay revealed that the mutant alpha 2-plasmin inhibitor synthesized is mostly retained within the cells as an endoglycosidase H-sensitive form, and only a small portion of it is secreted into the medium as a neuraminidase-sensitive form.
T10 1459-1658 Sentence denotes These results suggest that the Glu137 deletion leads to the alpha 2-plasmin inhibitor deficiency by causing a block in its intracellular transport from the endoplasmic reticulum to the Golgi complex.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 190-215 gene:5345 denotes alpha 2-Plasmin inhibitor
T1 321-342 disease:C0019087 denotes hemorrhagic diathesis
R1 T0 T1 associated_with alpha 2-Plasmin inhibitor,hemorrhagic diathesis

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 321-342 HP_0001892 denotes hemorrhagic diathesis

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
2572590-1#0#25#gene5345 190-215 gene5345 denotes alpha 2-Plasmin inhibitor
2572590-1#131#152#diseaseC0019087 321-342 diseaseC0019087 denotes hemorrhagic diathesis
0#25#gene5345131#152#diseaseC0019087 2572590-1#0#25#gene5345 2572590-1#131#152#diseaseC0019087 associated_with alpha 2-Plasmin inhibitor,hemorrhagic diathesis

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 19-47 Disease denotes plasmin inhibitor deficiency http://purl.obolibrary.org/obo/MONDO_0009883
T2 321-342 Disease denotes hemorrhagic diathesis http://purl.obolibrary.org/obo/MONDO_0002243
T3 1527-1555 Disease denotes plasmin inhibitor deficiency http://purl.obolibrary.org/obo/MONDO_0009883

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T1 321-342 Phenotype denotes hemorrhagic diathesis HP:0001892

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 536-543 OrganismTaxon denotes gene, a 137249|695940

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 165-178 Body_part denotes intracellular http://purl.obolibrary.org/obo/GO_0005622
T2 1582-1595 Body_part denotes intracellular http://purl.obolibrary.org/obo/GO_0005622
T3 1627-1636 Body_part denotes reticulum http://purl.obolibrary.org/obo/UBERON_0007361
T4 1644-1657 Body_part denotes Golgi complex http://purl.obolibrary.org/obo/GO_0005794