> top > projects > sentences > docs > PubMed:1988452 > annotations
sentences Home  

PubMed:1988452 JSONTXT 28 Projects

Annnotations TAB TSV DIC JSON TextAE

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.
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.
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.
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.
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.
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).
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.