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PubMed:8702527 JSONTXT

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DisGeNET

Id Subject Object Predicate Lexical cue
T0 3-19 gene:3643 denotes insulin receptor
T1 57-70 disease:C0265344 denotes leprechaunism
T2 140-147 gene:723961 denotes insulin
T3 57-70 disease:C0265344 denotes leprechaunism
T4 140-147 gene:3630 denotes insulin
T5 57-70 disease:C0265344 denotes leprechaunism
R1 T0 T1 associated_with insulin receptor,leprechaunism
R2 T2 T3 associated_with insulin,leprechaunism
R3 T4 T5 associated_with insulin,leprechaunism

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
8702527-0#28#42#geners142391704 28-42 geners142391704 denotes Asp707 --> Ala
8702527-0#57#70#diseaseC0265344 57-70 diseaseC0265344 denotes leprechaunism
28#42#geners14239170457#70#diseaseC0265344 8702527-0#28#42#geners142391704 8702527-0#57#70#diseaseC0265344 associated_with Asp707 --> Ala,leprechaunism

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
8702527-0#3#19#gene3643 3-19 gene3643 denotes insulin receptor
8702527-0#57#70#diseaseC0265344 57-70 diseaseC0265344 denotes leprechaunism
3#19#gene364357#70#diseaseC0265344 8702527-0#3#19#gene3643 8702527-0#57#70#diseaseC0265344 associated_with insulin receptor,leprechaunism

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-148 Sentence denotes An insulin receptor mutant (Asp707 --> Ala), involved in leprechaunism, is processed and transported to the cell surface but unable to bind insulin.
TextSentencer_T2 149-312 Sentence denotes We have identified a homozygous mutation near the carboxyl terminus of the insulin receptor (IR) alpha subunit from a leprechaun patient, changing Asp707 into Ala.
TextSentencer_T3 313-386 Sentence denotes Fibroblasts from this patient had no high affinity insulin binding sites.
TextSentencer_T4 387-509 Sentence denotes To examine the effect of the mutation on IR properties, the mutant IR was stably expressed in Chinese hamster ovary cells.
TextSentencer_T5 510-632 Sentence denotes Western blot analysis and metabolic labeling showed a normal processing of the mutant receptor to alpha and beta subunits.
TextSentencer_T6 633-900 Sentence denotes No increase in high affinity insulin binding sites was observed on Chinese hamster ovary cells expressing the mutant receptor, and also, affinity cross-linking of 125I-labeled insulin by disuccinimidyl suberate to these cells failed to label the mutant alpha subunit.
TextSentencer_T7 901-1088 Sentence denotes Biotinylation of cell surface proteins by biotin succinimidyl ester resulted in efficient biotinylation of the mutant IR alpha and beta subunits, showing its presence on the cell surface.
TextSentencer_T8 1089-1273 Sentence denotes On solubilization of the mutant insulin receptor in Triton X-100-containing buffers, 125I-insulin was efficiently cross-linked to the receptor alpha subunit by disuccinimidyl suberate.
TextSentencer_T9 1274-1429 Sentence denotes These studies demonstrate that Ala707 IR is normally processed and transported to the cell surface and that the mutation distorts the insulin binding site.
TextSentencer_T10 1430-1459 Sentence denotes Detergent restores this site.
TextSentencer_T11 1460-1618 Sentence denotes This is an example of a naturally occurring mutation in the insulin receptor that affects insulin binding without affecting receptor transport and processing.
TextSentencer_T12 1619-1722 Sentence denotes This mutation points to a major contribution of the alpha subunit carboxyl terminus to insulin binding.
T1 0-148 Sentence denotes An insulin receptor mutant (Asp707 --> Ala), involved in leprechaunism, is processed and transported to the cell surface but unable to bind insulin.
T2 149-312 Sentence denotes We have identified a homozygous mutation near the carboxyl terminus of the insulin receptor (IR) alpha subunit from a leprechaun patient, changing Asp707 into Ala.
T3 313-386 Sentence denotes Fibroblasts from this patient had no high affinity insulin binding sites.
T4 387-509 Sentence denotes To examine the effect of the mutation on IR properties, the mutant IR was stably expressed in Chinese hamster ovary cells.
T5 510-632 Sentence denotes Western blot analysis and metabolic labeling showed a normal processing of the mutant receptor to alpha and beta subunits.
T6 633-900 Sentence denotes No increase in high affinity insulin binding sites was observed on Chinese hamster ovary cells expressing the mutant receptor, and also, affinity cross-linking of 125I-labeled insulin by disuccinimidyl suberate to these cells failed to label the mutant alpha subunit.
T7 901-1088 Sentence denotes Biotinylation of cell surface proteins by biotin succinimidyl ester resulted in efficient biotinylation of the mutant IR alpha and beta subunits, showing its presence on the cell surface.
T8 1089-1273 Sentence denotes On solubilization of the mutant insulin receptor in Triton X-100-containing buffers, 125I-insulin was efficiently cross-linked to the receptor alpha subunit by disuccinimidyl suberate.
T9 1274-1429 Sentence denotes These studies demonstrate that Ala707 IR is normally processed and transported to the cell surface and that the mutation distorts the insulin binding site.
T10 1430-1459 Sentence denotes Detergent restores this site.
T11 1460-1618 Sentence denotes This is an example of a naturally occurring mutation in the insulin receptor that affects insulin binding without affecting receptor transport and processing.
T12 1619-1722 Sentence denotes This mutation points to a major contribution of the alpha subunit carboxyl terminus to insulin binding.

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 57-70 ORDO:508 denotes leprechaunism

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 57-70 Disease denotes leprechaunism http://purl.obolibrary.org/obo/MONDO_0009517
T2 267-277 Disease denotes leprechaun http://purl.obolibrary.org/obo/MONDO_0009517

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 278-285 OrganismTaxon denotes patient 9606
T2 335-342 OrganismTaxon denotes patient 9606
T3 481-496 OrganismTaxon denotes Chinese hamster 10029
T4 700-715 OrganismTaxon denotes Chinese hamster 10029

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 313-324 Body_part denotes Fibroblasts http://purl.obolibrary.org/obo/CL_0000057
T2 497-502 Body_part denotes ovary http://purl.obolibrary.org/obo/UBERON_0000992
T3 716-721 Body_part denotes ovary http://purl.obolibrary.org/obo/UBERON_0000992

CL-cell

Id Subject Object Predicate Lexical cue cl_id
T1 89-112 Cell denotes transported to the cell http://purl.obolibrary.org/obo/CL:0000627
T2 313-324 Cell denotes Fibroblasts http://purl.obolibrary.org/obo/CL:0000057
T3 1341-1364 Cell denotes transported to the cell http://purl.obolibrary.org/obo/CL:0000627