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PubMed:10406661 JSONTXT 17 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-78 Sentence denotes Small deletions in the type II collagen triple helix produce kniest dysplasia.
T1 0-78 Sentence denotes Small deletions in the type II collagen triple helix produce kniest dysplasia.
TextSentencer_T2 79-251 Sentence denotes Kniest dysplasia is a moderately severe type II collagenopathy, characterized by short trunk and limbs, kyphoscoliosis, midface hypoplasia, severe myopia, and hearing loss.
T2 79-251 Sentence denotes Kniest dysplasia is a moderately severe type II collagenopathy, characterized by short trunk and limbs, kyphoscoliosis, midface hypoplasia, severe myopia, and hearing loss.
TextSentencer_T3 252-422 Sentence denotes Mutations in the gene that encodes type II collagen (COL2A1), the predominant protein of cartilage, have been identified in a number of individuals with Kniest dysplasia.
T3 252-422 Sentence denotes Mutations in the gene that encodes type II collagen (COL2A1), the predominant protein of cartilage, have been identified in a number of individuals with Kniest dysplasia.
TextSentencer_T4 423-586 Sentence denotes All but two of these previously described mutations cause in-frame deletions in type II collagen, either by small deletions in the gene or splice site alterations.
T4 423-586 Sentence denotes All but two of these previously described mutations cause in-frame deletions in type II collagen, either by small deletions in the gene or splice site alterations.
TextSentencer_T5 587-685 Sentence denotes Furthermore, all but one of these mutations is located between exons 12 and 24 in the COL2A1 gene.
T5 587-685 Sentence denotes Furthermore, all but one of these mutations is located between exons 12 and 24 in the COL2A1 gene.
TextSentencer_T6 686-789 Sentence denotes We used heteroduplex analysis to identify sequence anomalies in five individuals with Kniest dysplasia.
T6 686-789 Sentence denotes We used heteroduplex analysis to identify sequence anomalies in five individuals with Kniest dysplasia.
TextSentencer_T7 790-1043 Sentence denotes Sequencing of the index patients' genomic DNA identified four new dominant mutations in COL2A1 that result in Kniest dysplasia: a 21-bp deletion in exon 16, an 18-bp deletion in exon 19, and 4-bp deletions in the splice donor sites of introns 14 and 20.
T7 790-1043 Sentence denotes Sequencing of the index patients' genomic DNA identified four new dominant mutations in COL2A1 that result in Kniest dysplasia: a 21-bp deletion in exon 16, an 18-bp deletion in exon 19, and 4-bp deletions in the splice donor sites of introns 14 and 20.
TextSentencer_T8 1044-1189 Sentence denotes A previously described 28-bp deletion at the COL2A1 exon 12-intron 12 junction, deleting the splice donor site, was identified in the fifth case.
T8 1044-1189 Sentence denotes A previously described 28-bp deletion at the COL2A1 exon 12-intron 12 junction, deleting the splice donor site, was identified in the fifth case.
TextSentencer_T9 1190-1301 Sentence denotes The latter three mutations are predicted to result in exon skipping in the mRNA encoded from the mutant allele.
T9 1190-1301 Sentence denotes The latter three mutations are predicted to result in exon skipping in the mRNA encoded from the mutant allele.
TextSentencer_T10 1302-1539 Sentence denotes These data suggest that Kniest dysplasia results from shorter type II collagen monomers, and support the hypothesis that alteration of a specific COL2A1 domain, which may span from exons 12 to 24, leads to the Kniest dysplasia phenotype.
T10 1302-1539 Sentence denotes These data suggest that Kniest dysplasia results from shorter type II collagen monomers, and support the hypothesis that alteration of a specific COL2A1 domain, which may span from exons 12 to 24, leads to the Kniest dysplasia phenotype.