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PubMed:11706004 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-170 Sentence denotes Procollagen with skipping of alpha 1(I) exon 41 has lower binding affinity for alpha 1(I) C-telopeptide, impaired in vitro fibrillogenesis, and altered fibril morphology.
TextSentencer_T2 171-432 Sentence denotes Previous in vitro data on type I collagen self-assembly into fibrils suggested that the amino acid 776-796 region of the alpha1(I) chain is crucial for fibril formation because it serves as the recognition site for the telopeptide of a docking collagen monomer.
TextSentencer_T3 433-579 Sentence denotes We used a natural collagen mutation with a deletion of amino acids 766-801 to confirm the importance of this region for collagen fibril formation.
TextSentencer_T4 580-694 Sentence denotes The proband has type III osteogenesis imperfecta and is heterozygous for a COL1A1 IVS 41 A(+4) --> C substitution.
TextSentencer_T5 695-826 Sentence denotes The intronic mutation causes splicing of exon 41, confirmed by sequencing of normal and shorter reverse transcriptase-PCR products.
TextSentencer_T6 827-978 Sentence denotes Reverse transcriptase-PCR using RNA from proband dermal fibroblasts and clonal cell lines showed the mutant cDNA was about 15% of total alpha1(I) cDNA.
TextSentencer_T7 979-1126 Sentence denotes The mutant transcript is translated; structurally abnormal alpha chains are demonstrated in the cell layer of proband fibroblasts by SDS-urea-PAGE.
TextSentencer_T8 1127-1332 Sentence denotes The proportion of mutant chains in the secreted procollagen was determined to be 10% by resistance to digestion with MMP-1, since chains lacking exon 41 are missing the vertebral collagenase cleavage site.
TextSentencer_T9 1333-1458 Sentence denotes Secreted proband collagen was used for analysis of kinetics of binding of alpha1(I) C-telopeptide using an optical biosensor.
TextSentencer_T10 1459-1557 Sentence denotes Telopeptide had slower association and faster dissociation from proband than from normal collagen.
TextSentencer_T11 1558-1622 Sentence denotes Purified proband pC-collagen was used to study fibril formation.
TextSentencer_T12 1623-1699 Sentence denotes The presence of the mutant molecules decreases the rate of fibril formation.
TextSentencer_T13 1700-1883 Sentence denotes The fibrils formed in the presence of 10-15% mutant molecules have strikingly increased length compared with normal collagen, but are well organized, as demonstrated by D-periodicity.
TextSentencer_T14 1884-2120 Sentence denotes These results suggest that some collagen molecules containing the mutant chain are incorporated into fibrils and that the absence of the telopeptide binding region from even a small portion of the monomers interferes with fibril growth.
TextSentencer_T15 2121-2206 Sentence denotes Both abnormal fibrils and slower remodeling may contribute to the severe phenotype.in
T1 0-170 Sentence denotes Procollagen with skipping of alpha 1(I) exon 41 has lower binding affinity for alpha 1(I) C-telopeptide, impaired in vitro fibrillogenesis, and altered fibril morphology.
T2 171-432 Sentence denotes Previous in vitro data on type I collagen self-assembly into fibrils suggested that the amino acid 776-796 region of the alpha1(I) chain is crucial for fibril formation because it serves as the recognition site for the telopeptide of a docking collagen monomer.
T3 433-579 Sentence denotes We used a natural collagen mutation with a deletion of amino acids 766-801 to confirm the importance of this region for collagen fibril formation.
T4 580-694 Sentence denotes The proband has type III osteogenesis imperfecta and is heterozygous for a COL1A1 IVS 41 A(+4) --> C substitution.
T5 695-826 Sentence denotes The intronic mutation causes splicing of exon 41, confirmed by sequencing of normal and shorter reverse transcriptase-PCR products.
T6 827-978 Sentence denotes Reverse transcriptase-PCR using RNA from proband dermal fibroblasts and clonal cell lines showed the mutant cDNA was about 15% of total alpha1(I) cDNA.
T7 979-1126 Sentence denotes The mutant transcript is translated; structurally abnormal alpha chains are demonstrated in the cell layer of proband fibroblasts by SDS-urea-PAGE.
T8 1127-1332 Sentence denotes The proportion of mutant chains in the secreted procollagen was determined to be 10% by resistance to digestion with MMP-1, since chains lacking exon 41 are missing the vertebral collagenase cleavage site.
T9 1333-1458 Sentence denotes Secreted proband collagen was used for analysis of kinetics of binding of alpha1(I) C-telopeptide using an optical biosensor.
T10 1459-1557 Sentence denotes Telopeptide had slower association and faster dissociation from proband than from normal collagen.
T11 1558-1622 Sentence denotes Purified proband pC-collagen was used to study fibril formation.
T12 1623-1699 Sentence denotes The presence of the mutant molecules decreases the rate of fibril formation.
T13 1700-1883 Sentence denotes The fibrils formed in the presence of 10-15% mutant molecules have strikingly increased length compared with normal collagen, but are well organized, as demonstrated by D-periodicity.
T14 1884-2120 Sentence denotes These results suggest that some collagen molecules containing the mutant chain are incorporated into fibrils and that the absence of the telopeptide binding region from even a small portion of the monomers interferes with fibril growth.
T15 2121-2206 Sentence denotes Both abnormal fibrils and slower remodeling may contribute to the severe phenotype.in

Glycosmos6-MAT

Id Subject Object Predicate Lexical cue
T1 1296-1305 http://purl.obolibrary.org/obo/MAT_0000373 denotes vertebral

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 1075-1085 http://purl.obolibrary.org/obo/UBERON_0000119 denotes cell layer
PD-UBERON-AE-B_T2 1296-1305 http://purl.obolibrary.org/obo/UBERON_3010224 denotes vertebral
PD-UBERON-AE-B_T3 1839-1848 http://purl.obolibrary.org/obo/UBERON_0000062 denotes organized

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 1075-1085 http://purl.obolibrary.org/obo/UBERON_0000119 denotes cell layer
PD-UBERON-AE-B_T2 1296-1305 http://purl.obolibrary.org/obo/UBERON_3010224 denotes vertebral
PD-UBERON-AE-B_T3 1296-1305 http://purl.obolibrary.org/obo/UBERON_0002412 denotes vertebral
PD-UBERON-AE-B_T4 1839-1848 http://purl.obolibrary.org/obo/UBERON_0000062 denotes organized

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 605-628 ORDO:666 denotes osteogenesis imperfecta

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 605-628 Disease denotes osteogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0019019

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 152-158 Body_part denotes fibril http://purl.obolibrary.org/obo/GO_0099512
T2 323-329 Body_part denotes fibril http://purl.obolibrary.org/obo/GO_0099512
T3 562-568 Body_part denotes fibril http://purl.obolibrary.org/obo/GO_0099512
T4 883-894 Body_part denotes fibroblasts http://purl.obolibrary.org/obo/CL_0000057
T5 1075-1085 Body_part denotes cell layer http://purl.obolibrary.org/obo/UBERON_0000119
T6 1097-1108 Body_part denotes fibroblasts http://purl.obolibrary.org/obo/CL_0000057
T7 1605-1611 Body_part denotes fibril http://purl.obolibrary.org/obo/GO_0099512
T8 1682-1688 Body_part denotes fibril http://purl.obolibrary.org/obo/GO_0099512
T9 2106-2112 Body_part denotes fibril http://purl.obolibrary.org/obo/GO_0099512

Anatomy-MAT

Id Subject Object Predicate Lexical cue mat_id
T1 1296-1305 Body_part denotes vertebral http://purl.obolibrary.org/obo/MAT_0000373

CL-cell

Id Subject Object Predicate Lexical cue cl_id
T1 197-203 Cell denotes type I http://purl.obolibrary.org/obo/CL:0004120|http://purl.obolibrary.org/obo/CL:0004138
T3 883-894 Cell denotes fibroblasts http://purl.obolibrary.org/obo/CL:0000057
T4 1097-1108 Cell denotes fibroblasts http://purl.obolibrary.org/obo/CL:0000057