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PubMed:2470760 JSONTXT

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DisGeNET

Id Subject Object Predicate Lexical cue
T0 262-280 gene:1278 denotes type I procollagen
T1 107-130 disease:C0029434 denotes osteogenesis imperfecta
T2 991-998 gene:146 denotes alpha 1
T3 1025-1065 disease:C0268358 denotes perinatal lethal osteogenesis imperfecta
R1 T0 T1 associated_with type I procollagen,osteogenesis imperfecta
R2 T2 T3 associated_with alpha 1,perinatal lethal osteogenesis imperfecta

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
2470760-5#69#107#geners67525025 920-958 geners67525025 denotes Gly----Val substitution at residue 256
2470760-5#174#214#diseaseC0268358 1025-1065 diseaseC0268358 denotes perinatal lethal osteogenesis imperfecta
69#107#geners67525025174#214#diseaseC0268358 2470760-5#69#107#geners67525025 2470760-5#174#214#diseaseC0268358 associated_with Gly----Val substitution at residue 256,perinatal lethal osteogenesis imperfecta

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-77 Sentence denotes RNA sequence analysis of a perinatal lethal osteogenesis imperfecta mutation.
TextSentencer_T2 78-291 Sentence denotes The perinatal lethal form of osteogenesis imperfecta often results from mutations which disrupt stable assembly, delay secretion, and cause excessive posttranslational modification of type I procollagen molecules.
TextSentencer_T3 292-387 Sentence denotes One such mutation was efficiently characterized by an indirect method of RNA sequence analysis.
TextSentencer_T4 388-564 Sentence denotes The mutation initially was localized in procollagen by mapping the distribution of abnormal posttranslational modification within the triple helical domain of mutant molecules.
TextSentencer_T5 565-850 Sentence denotes Total RNA was isolated from osteogenesis imperfecta cells in culture, cDNA was synthesized using alpha 1(I) and alpha 2(I) specific primers, and fragments of cDNA suspected to harbor the mutation were amplified by the polymerase chain reaction technique and then cloned in M13 vectors.
TextSentencer_T6 851-1072 Sentence denotes Sequence analysis of the amplified cDNA revealed a new, heterozygous Gly----Val substitution at residue 256 of the triple helical domain of alpha 1(I) chains produced by the perinatal lethal osteogenesis imperfecta cells.
TextSentencer_T7 1073-1174 Sentence denotes The nature and location of the mutation were confirmed by sequence analysis of amplified genomic DNA.
TextSentencer_T8 1175-1407 Sentence denotes A Gly----Val substitution has not previously been associated with the lethal form of osteogenesis imperfecta, and this mutation has the most amino-terminal location within the alpha 1(I) chain triple helical domain reported to date.
T1 0-77 Sentence denotes RNA sequence analysis of a perinatal lethal osteogenesis imperfecta mutation.
T2 78-291 Sentence denotes The perinatal lethal form of osteogenesis imperfecta often results from mutations which disrupt stable assembly, delay secretion, and cause excessive posttranslational modification of type I procollagen molecules.
T3 292-387 Sentence denotes One such mutation was efficiently characterized by an indirect method of RNA sequence analysis.
T4 388-564 Sentence denotes The mutation initially was localized in procollagen by mapping the distribution of abnormal posttranslational modification within the triple helical domain of mutant molecules.
T5 565-850 Sentence denotes Total RNA was isolated from osteogenesis imperfecta cells in culture, cDNA was synthesized using alpha 1(I) and alpha 2(I) specific primers, and fragments of cDNA suspected to harbor the mutation were amplified by the polymerase chain reaction technique and then cloned in M13 vectors.
T6 851-1072 Sentence denotes Sequence analysis of the amplified cDNA revealed a new, heterozygous Gly----Val substitution at residue 256 of the triple helical domain of alpha 1(I) chains produced by the perinatal lethal osteogenesis imperfecta cells.
T7 1073-1174 Sentence denotes The nature and location of the mutation were confirmed by sequence analysis of amplified genomic DNA.
T8 1175-1407 Sentence denotes A Gly----Val substitution has not previously been associated with the lethal form of osteogenesis imperfecta, and this mutation has the most amino-terminal location within the alpha 1(I) chain triple helical domain reported to date.

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 107-130 ORDO:666 denotes osteogenesis imperfecta
AB2 593-616 ORDO:666 denotes osteogenesis imperfecta
AB3 1260-1283 ORDO:666 denotes osteogenesis imperfecta

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 37-67 Disease denotes lethal osteogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0008147
T2 107-130 Disease denotes osteogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0019019
T3 593-616 Disease denotes osteogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0019019
T4 1035-1065 Disease denotes lethal osteogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0008147
T5 1260-1283 Disease denotes osteogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0019019

CL-cell

Id Subject Object Predicate Lexical cue cl_id
T1 262-268 Cell denotes type I http://purl.obolibrary.org/obo/CL:0004120|http://purl.obolibrary.org/obo/CL:0004138