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PubMed:11443282 JSONTXT

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DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
11443282-1#105#109#gene1080 200-204 gene1080 denotes CFTR
11443282-1#137#152#diseaseC0010674 232-247 diseaseC0010674 denotes cystic fibrosis
105#109#gene1080137#152#diseaseC0010674 11443282-1#105#109#gene1080 11443282-1#137#152#diseaseC0010674 associated_with CFTR,cystic fibrosis

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-94 Sentence denotes A novel CFTR disease-associated mutation causes addition of an extra N-linked oligosaccharide.
TextSentencer_T2 95-248 Sentence denotes We have examined the influence of a novel missense mutation in the fourth extracytoplasmic loop (EL4) of CFTR detected in a patient with cystic fibrosis.
TextSentencer_T3 249-395 Sentence denotes This substitution (T908N) creates a consensus sequence (N X S/T) for addition of an N-linked oligosaccharide chain near the C-terminal end of EL4.
TextSentencer_T4 396-545 Sentence denotes Oligosaccharyl transferase generally does not have access to this consensus sequence if it is closer than about twelve amino acids from the membrane.
TextSentencer_T5 546-746 Sentence denotes However, the T908N site is used, even though it is within four residues of the predicted membrane interface and the oligosaccharide chain added binds calnexin, a resident chaperone of the ER membrane.
TextSentencer_T6 747-899 Sentence denotes The chloride channel activity of this variant CFTR is abnormal as evidenced by a reduced rate of (36)Cl(-) efflux and a noisy single channel open state.
TextSentencer_T7 900-1039 Sentence denotes This may reflect some displacement of the membrane spanning sequence C-terminal of EL4 since it contains residues influencing the ion pore.
T1 0-94 Sentence denotes A novel CFTR disease-associated mutation causes addition of an extra N-linked oligosaccharide.
T2 95-248 Sentence denotes We have examined the influence of a novel missense mutation in the fourth extracytoplasmic loop (EL4) of CFTR detected in a patient with cystic fibrosis.
T3 249-395 Sentence denotes This substitution (T908N) creates a consensus sequence (N X S/T) for addition of an N-linked oligosaccharide chain near the C-terminal end of EL4.
T4 396-545 Sentence denotes Oligosaccharyl transferase generally does not have access to this consensus sequence if it is closer than about twelve amino acids from the membrane.
T5 546-746 Sentence denotes However, the T908N site is used, even though it is within four residues of the predicted membrane interface and the oligosaccharide chain added binds calnexin, a resident chaperone of the ER membrane.
T6 747-899 Sentence denotes The chloride channel activity of this variant CFTR is abnormal as evidenced by a reduced rate of (36)Cl(-) efflux and a noisy single channel open state.
T7 900-1039 Sentence denotes This may reflect some displacement of the membrane spanning sequence C-terminal of EL4 since it contains residues influencing the ion pore.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 200-204 gene:1080 denotes CFTR
T1 232-247 disease:C0010674 denotes cystic fibrosis
R1 T0 T1 associated_with CFTR,cystic fibrosis

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 232-247 Disease denotes cystic fibrosis http://purl.obolibrary.org/obo/MONDO_0009061

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 219-226 OrganismTaxon denotes patient 9606

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 536-544 Body_part denotes membrane http://purl.obolibrary.org/obo/GO_0016020|http://purl.obolibrary.org/obo/UBERON_0000094|http://purl.obolibrary.org/obo/UBERON_0000158
T4 635-643 Body_part denotes membrane http://purl.obolibrary.org/obo/GO_0016020|http://purl.obolibrary.org/obo/UBERON_0000094|http://purl.obolibrary.org/obo/UBERON_0000158
T7 737-745 Body_part denotes membrane http://purl.obolibrary.org/obo/GO_0016020|http://purl.obolibrary.org/obo/UBERON_0000094|http://purl.obolibrary.org/obo/UBERON_0000158
T10 942-950 Body_part denotes membrane http://purl.obolibrary.org/obo/GO_0016020|http://purl.obolibrary.org/obo/UBERON_0000094|http://purl.obolibrary.org/obo/UBERON_0000158
T13 1034-1038 Body_part denotes pore http://purl.obolibrary.org/obo/UBERON_0008915