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PubMed:11278977 JSONTXT

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sentences

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.
TextSentencer_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.
TextSentencer_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.
TextSentencer_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.
TextSentencer_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.
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.
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.
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.
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.
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.
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.
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.
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.
T2 182-285 Sentence denotes We studied four affected individuals from a family of three generations with Ehlers-Danlos Syndrome II.
T3 286-403 Sentence denotes Type V collagen transcripts of affected individuals were screened by reverse transcriptase-polymerase chain reaction.
T4 404-507 Sentence denotes Amplification of the exon 9-28 region of alpha1(V) yielded normal and larger products from the proband.
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.
T6 630-730 Sentence denotes The genomic defect was identified as an A(-2)--> G substitution at the exon 14 splice acceptor site.
T7 731-830 Sentence denotes A cryptic acceptor site -100 nucleotide within intron 13 is used instead of the mutant splice site.
T8 831-916 Sentence denotes The insertion shifts the reading frame +1 and results in a stop codon within exon 17.
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.
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.
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.
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.
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.
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.
T15 1952-2080 Sentence denotes The proband had a greater proportion of both larger and smaller fibrils and occasional fibrils with a cauliflower configuration.
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.

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
11278977-0#0#6#gene1289 0-6 gene1289 denotes COL5A1
11278977-0#155#177#diseaseC0013720 155-177 diseaseC0013720 denotes Ehlers-Danlos syndrome
0#6#gene1289155#177#diseaseC0013720 11278977-0#0#6#gene1289 11278977-0#155#177#diseaseC0013720 associated_with COL5A1,Ehlers-Danlos syndrome

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 2161-2184 ORDO:666 denotes osteogenesis imperfecta

DisGeNET

Id Subject Object Predicate Lexical cue
T0 0-6 gene:1289 denotes COL5A1
T1 155-177 disease:C0013720 denotes Ehlers-Danlos syndrome
T2 95-102 gene:146 denotes alpha 1
T3 155-177 disease:C0013720 denotes Ehlers-Danlos syndrome
R1 T0 T1 associated_with COL5A1,Ehlers-Danlos syndrome
R2 T2 T3 associated_with alpha 1,Ehlers-Danlos syndrome

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 155-177 Disease denotes Ehlers-Danlos syndrome http://purl.obolibrary.org/obo/MONDO_0020066
T2 259-281 Disease denotes Ehlers-Danlos Syndrome http://purl.obolibrary.org/obo/MONDO_0020066
T3 2161-2184 Disease denotes osteogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0019019

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 2054-2065 OrganismTaxon denotes cauliflower 3715

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 1011-1022 Body_part denotes fibroblasts http://purl.obolibrary.org/obo/CL_0000057
T2 1295-1306 Body_part denotes fibroblasts http://purl.obolibrary.org/obo/CL_0000057
T3 1345-1356 Body_part denotes fibroblasts http://purl.obolibrary.org/obo/CL_0000057
T4 1724-1744 Body_part denotes extracellular matrix http://purl.obolibrary.org/obo/GO_0031012
T5 1772-1778 Body_part denotes fibril http://purl.obolibrary.org/obo/GO_0099512
T6 1909-1915 Body_part denotes fibril http://purl.obolibrary.org/obo/GO_0099512

CL-cell

Id Subject Object Predicate Lexical cue cl_id
T1 1011-1022 Cell denotes fibroblasts http://purl.obolibrary.org/obo/CL:0000057
T2 1295-1306 Cell denotes fibroblasts http://purl.obolibrary.org/obo/CL:0000057
T3 1320-1326 Cell denotes type I http://purl.obolibrary.org/obo/CL:0004120|http://purl.obolibrary.org/obo/CL:0004138
T5 1345-1356 Cell denotes fibroblasts http://purl.obolibrary.org/obo/CL:0000057
T6 1693-1699 Cell denotes type I http://purl.obolibrary.org/obo/CL:0004120|http://purl.obolibrary.org/obo/CL:0004138
T8 1826-1832 Cell denotes type I http://purl.obolibrary.org/obo/CL:0004120|http://purl.obolibrary.org/obo/CL:0004138
T10 2133-2139 Cell denotes type I http://purl.obolibrary.org/obo/CL:0004120|http://purl.obolibrary.org/obo/CL:0004138