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PubMed:1988452 JSONTXT

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CL-cell

Id Subject Object Predicate Lexical cue cl_id
T1 193-204 Cell denotes fibroblasts http://purl.obolibrary.org/obo/CL:0000057
T2 313-319 Cell denotes type I http://purl.obolibrary.org/obo/CL:0004120|http://purl.obolibrary.org/obo/CL:0004138
T4 521-527 Cell denotes type I http://purl.obolibrary.org/obo/CL:0004120|http://purl.obolibrary.org/obo/CL:0004138
T6 896-902 Cell denotes Type I http://purl.obolibrary.org/obo/CL:0004120|http://purl.obolibrary.org/obo/CL:0004138
T8 1195-1205 Cell denotes fibroblast http://purl.obolibrary.org/obo/CL:0000057

DisGeNET

Id Subject Object Predicate Lexical cue
T0 39-46 gene:146 denotes alpha 1
T1 88-111 disease:C0029434 denotes osteogenesis imperfecta
T2 478-485 gene:146 denotes alpha 1
T3 253-276 disease:C0029434 denotes osteogenesis imperfecta
T4 358-365 gene:146 denotes alpha 1
T5 253-276 disease:C0029434 denotes osteogenesis imperfecta
R1 T0 T1 associated_with alpha 1,osteogenesis imperfecta
R2 T2 T3 associated_with alpha 1,osteogenesis imperfecta
R3 T4 T5 associated_with alpha 1,osteogenesis imperfecta

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 253-276 ORDO:666 denotes osteogenesis imperfecta
TI1 88-111 ORDO:666 denotes osteogenesis imperfecta
AB2 2441-2464 ORDO:666 denotes osteogenesis imperfecta

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-112 Sentence denotes A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta.
TextSentencer_T2 113-183 Sentence denotes Substitution of cysteine for glycine 178 in the triple helical domain.
TextSentencer_T3 184-550 Sentence denotes Cultured fibroblasts from a patient affected with a moderate form of osteogenesis imperfecta were defective for the synthesis of type I collagen molecules; about half of the alpha 1(I) chains contained a cysteine residue in the triple helical domain and a disulfide link formed when two mutant alpha 1(I) chains were incorporated into a type I collagen heterotrimer.
TextSentencer_T4 551-614 Sentence denotes The proband's parents were clinically and biochemically normal.
TextSentencer_T5 615-851 Sentence denotes The cysteine was localized within peptide alpha 1(I)CB8 between residues 170 and 200 of the triple helical domain using a chemical procedure with 2-nitro-5-thiocyanobenzoic acid (Tenni, R., Rossi, A., Valli, M., Mottes, M., Pignatti, P.
TextSentencer_T6 852-895 Sentence denotes F., and Cetta, G. (1990) Matrix 10, 20-26).
TextSentencer_T7 896-1145 Sentence denotes Type I procollagen heterotrimers containing either one or two mutant chains showed (i) a slight abnormality in secretion from cells; (ii) a low degree of post-translational overmodifications; (iii) the same, but lower than normal, thermal stability.
TextSentencer_T8 1146-1277 Sentence denotes Total RNA was isolated from the proband's dermal fibroblast cultures, and cDNAs for pro-alpha 1(I) were prepared d using total RNA.
TextSentencer_T9 1278-1429 Sentence denotes A portion of cDNA, coding for the region encompassing residues 119-193 of alpha 1(I) triple helical domain, was amplified by polymerase chain reaction.
TextSentencer_T10 1430-1614 Sentence denotes A single base pair mismatch was identified by chemical cleavage of DNA.DNA heteroduplexes, indicating a possible substitution of a guanine in the triplet coding for glycine 178 or 181.
TextSentencer_T11 1615-1797 Sentence denotes The same unique mismatch was detected by chemical cleavage in about one-half of the molecules in heteroduplexes formed between patient's pro-alpha 1(I) mRNAs and a normal cDNA probe.
TextSentencer_T12 1798-2150 Sentence denotes The amplified products were cloned and sequenced, confirming the heterozygous nature of the patient and demonstrating the presence and the location of a missense mutation; a single T for G substitution was found in the first base of the triplet coding for residue 178 of alpha 1(I) triple helical domain, leading to a cysteine for glycine substitution.
TextSentencer_T13 2151-2273 Sentence denotes Allele-specific oligonucleotide hybridization to amplified DNA confirmed a de novo point mutation in the proband's genome.
TextSentencer_T14 2274-2465 Sentence denotes The findings in this patient are in accord with the phenotypic gradient model, which correlates the localization of the structural defect with the clinical outcome of osteogenesis imperfecta.
TextSentencer_T15 2466-2671 Sentence denotes The mutant protein has some properties that differ from the caused by the cysteine for glycine 175 substitution, suggesting a direct influence of the neighboring amino acids on the effects of the mutation.
T1 0-112 Sentence denotes A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta.
T2 113-183 Sentence denotes Substitution of cysteine for glycine 178 in the triple helical domain.
T3 184-550 Sentence denotes Cultured fibroblasts from a patient affected with a moderate form of osteogenesis imperfecta were defective for the synthesis of type I collagen molecules; about half of the alpha 1(I) chains contained a cysteine residue in the triple helical domain and a disulfide link formed when two mutant alpha 1(I) chains were incorporated into a type I collagen heterotrimer.
T4 551-614 Sentence denotes The proband's parents were clinically and biochemically normal.
T5 615-851 Sentence denotes The cysteine was localized within peptide alpha 1(I)CB8 between residues 170 and 200 of the triple helical domain using a chemical procedure with 2-nitro-5-thiocyanobenzoic acid (Tenni, R., Rossi, A., Valli, M., Mottes, M., Pignatti, P.
T6 852-895 Sentence denotes F., and Cetta, G. (1990) Matrix 10, 20-26).
T7 896-1145 Sentence denotes Type I procollagen heterotrimers containing either one or two mutant chains showed (i) a slight abnormality in secretion from cells; (ii) a low degree of post-translational overmodifications; (iii) the same, but lower than normal, thermal stability.
T8 1146-1277 Sentence denotes Total RNA was isolated from the proband's dermal fibroblast cultures, and cDNAs for pro-alpha 1(I) were prepared d using total RNA.
T9 1278-1429 Sentence denotes A portion of cDNA, coding for the region encompassing residues 119-193 of alpha 1(I) triple helical domain, was amplified by polymerase chain reaction.
T10 1430-1614 Sentence denotes A single base pair mismatch was identified by chemical cleavage of DNA.DNA heteroduplexes, indicating a possible substitution of a guanine in the triplet coding for glycine 178 or 181.
T11 1615-1797 Sentence denotes The same unique mismatch was detected by chemical cleavage in about one-half of the molecules in heteroduplexes formed between patient's pro-alpha 1(I) mRNAs and a normal cDNA probe.
T12 1798-2150 Sentence denotes The amplified products were cloned and sequenced, confirming the heterozygous nature of the patient and demonstrating the presence and the location of a missense mutation; a single T for G substitution was found in the first base of the triplet coding for residue 178 of alpha 1(I) triple helical domain, leading to a cysteine for glycine substitution.
T13 2151-2273 Sentence denotes Allele-specific oligonucleotide hybridization to amplified DNA confirmed a de novo point mutation in the proband's genome.
T14 2274-2465 Sentence denotes The findings in this patient are in accord with the phenotypic gradient model, which correlates the localization of the structural defect with the clinical outcome of osteogenesis imperfecta.
T15 2466-2671 Sentence denotes The mutant protein has some properties that differ from the caused by the cysteine for glycine 175 substitution, suggesting a direct influence of the neighboring amino acids on the effects of the mutation.

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 88-111 Disease denotes osteogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0019019
T2 253-276 Disease denotes osteogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0019019
T3 2441-2464 Disease denotes osteogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0019019

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 142-149 OrganismTaxon denotes glycine 3846
T2 212-219 OrganismTaxon denotes patient 9606
T3 805-813 OrganismTaxon denotes Rossi, A 34532
T4 1595-1602 OrganismTaxon denotes glycine 3846
T5 1890-1897 OrganismTaxon denotes patient 9606
T6 2129-2136 OrganismTaxon denotes glycine 3846
T7 2295-2302 OrganismTaxon denotes patient 9606
T8 2553-2560 OrganismTaxon denotes glycine 3846

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 193-204 Body_part denotes fibroblasts http://purl.obolibrary.org/obo/CL_0000057
T2 1195-1205 Body_part denotes fibroblast http://purl.obolibrary.org/obo/CL_0000057