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PubMed:11278977 JSONTXT 28 Projects

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Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-181 Sentence denotes COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II.
T1 0-181 Sentence denotes COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II.
TextSentencer_T2 182-285 Sentence denotes We studied four affected individuals from a family of three generations with Ehlers-Danlos Syndrome II.
T2 182-285 Sentence denotes We studied four affected individuals from a family of three generations with Ehlers-Danlos Syndrome II.
TextSentencer_T3 286-403 Sentence denotes Type V collagen transcripts of affected individuals were screened by reverse transcriptase-polymerase chain reaction.
T3 286-403 Sentence denotes Type V collagen transcripts of affected individuals were screened by reverse transcriptase-polymerase chain reaction.
TextSentencer_T4 404-507 Sentence denotes Amplification of the exon 9-28 region of alpha1(V) yielded normal and larger products from the proband.
T4 404-507 Sentence denotes Amplification of the exon 9-28 region of alpha1(V) yielded normal and larger products from the proband.
TextSentencer_T5 508-629 Sentence denotes Sequencing of cDNA revealed a 100-base pair insertion from the 3'-end of intron 13 between exons 13 and 14 in one allele.
T5 508-629 Sentence denotes Sequencing of cDNA revealed a 100-base pair insertion from the 3'-end of intron 13 between exons 13 and 14 in one allele.
TextSentencer_T6 630-730 Sentence denotes The genomic defect was identified as an A(-2)--> G substitution at the exon 14 splice acceptor site.
T6 630-730 Sentence denotes The genomic defect was identified as an A(-2)--> G substitution at the exon 14 splice acceptor site.
TextSentencer_T7 731-830 Sentence denotes A cryptic acceptor site -100 nucleotide within intron 13 is used instead of the mutant splice site.
T7 731-830 Sentence denotes A cryptic acceptor site -100 nucleotide within intron 13 is used instead of the mutant splice site.
TextSentencer_T8 831-916 Sentence denotes The insertion shifts the reading frame +1 and results in a stop codon within exon 17.
T8 831-916 Sentence denotes The insertion shifts the reading frame +1 and results in a stop codon within exon 17.
TextSentencer_T9 917-1155 Sentence denotes The mutant transcript was much less abundant than normal allele product in untreated cultured fibroblasts but was approximately equimolar in cycloheximide-treated cells, suggesting that the mutation causes nonsense-mediated decay of mRNA.
T9 917-1155 Sentence denotes The mutant transcript was much less abundant than normal allele product in untreated cultured fibroblasts but was approximately equimolar in cycloheximide-treated cells, suggesting that the mutation causes nonsense-mediated decay of mRNA.
TextSentencer_T10 1156-1307 Sentence denotes By RNase protection experiments, the level of mutant transcript was determined to be 8% that of the normal transcript in untreated proband fibroblasts.
T10 1156-1307 Sentence denotes By RNase protection experiments, the level of mutant transcript was determined to be 8% that of the normal transcript in untreated proband fibroblasts.
TextSentencer_T11 1308-1436 Sentence denotes Relative to type I collagen, proband fibroblasts secreted only 65% of the amount of type V collagen secreted by normal controls.
T11 1308-1436 Sentence denotes Relative to type I collagen, proband fibroblasts secreted only 65% of the amount of type V collagen secreted by normal controls.
TextSentencer_T12 1437-1658 Sentence denotes Selective salt precipitation of proband secreted collagen provided supportive evidence that the alpha chain composition of type V collagen remains alpha1(V)(2)alpha2(V) even in the context of alpha1(V) haploinsufficiency.
T12 1437-1658 Sentence denotes Selective salt precipitation of proband secreted collagen provided supportive evidence that the alpha chain composition of type V collagen remains alpha1(V)(2)alpha2(V) even in the context of alpha1(V) haploinsufficiency.
TextSentencer_T13 1659-1788 Sentence denotes Type V collagen incorporates into type I collagen fibrils in the extracellular matrix and is thought to regulate fibril diameter.
T13 1659-1788 Sentence denotes Type V collagen incorporates into type I collagen fibrils in the extracellular matrix and is thought to regulate fibril diameter.
TextSentencer_T14 1789-1951 Sentence denotes Transmission electron micrographs of type I collagen fibrils in a proband dermal biopsy showed greater heterogeneity in fibril diameter than in a matched control.
T14 1789-1951 Sentence denotes Transmission electron micrographs of type I collagen fibrils in a proband dermal biopsy showed greater heterogeneity in fibril diameter than in a matched control.
TextSentencer_T15 1952-2080 Sentence denotes The proband had a greater proportion of both larger and smaller fibrils and occasional fibrils with a cauliflower configuration.
T15 1952-2080 Sentence denotes The proband had a greater proportion of both larger and smaller fibrils and occasional fibrils with a cauliflower configuration.
TextSentencer_T16 2081-2330 Sentence denotes Unlike the genotype/phenotype relationship seen for type I collagen defects and osteogenesis imperfecta, the null allele in this family appears to cause clinical features similar to those seen in cases with structural alterations in type V collagen.
T16 2081-2330 Sentence denotes Unlike the genotype/phenotype relationship seen for type I collagen defects and osteogenesis imperfecta, the null allele in this family appears to cause clinical features similar to those seen in cases with structural alterations in type V collagen.