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sentences

Id Subject Object Predicate Lexical cue
T1 0-217 Sentence denotes A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII.
T2 218-462 Sentence denotes The dermal type I collagen of a patient with Ehlers-Danlos type VIIB (EDS-VIIB) contained normal alpha 2(I) chains and mutant pN-alpha 2(I)' chains in which the amino-terminal propeptide (N-propeptide) remained attached to the alpha 2(I) chain.
T3 463-534 Sentence denotes Similar alpha 2(I) chains were produced by cultured dermal fibroblasts.
T4 535-1013 Sentence denotes Amino acid sequencing of tryptic peptides, prepared from the mutant amino-terminal pN-alpha 2(I) CB1' peptide, indicated that five amino acids, including the N-proteinase (the specific proteinase that cleaves the procollagen N-propeptide) cleavage site, had been deleted from the junction of the N-propeptide and the N-telopeptide (the nonhelical domain at the amino-terminus of the alpha chains of fully processed type I polypeptide chains) of the mutant pro-alpha 2(I)' chain.
T5 1014-1300 Sentence denotes The corresponding 15 nucleotides, which were deleted from approximately half of the alpha 2(I) cDNA polymerase chain reaction products, of the alpha 2(I) cDNA polymerase chain reaction products, were encoded by the +1 to +15 nucleotides of exon 6 of the normal alpha 2(I) gene (COL1A2).
T6 1301-1573 Sentence denotes These 15 nucleotides were deleted in the splicing of alpha 2(I) pre-mRNA to mRNA as a result of inactivation of the 3' splice site of intron 5 by an AG to AC mutation and the activation of a cryptic AG splice acceptor site corresponding to positions +14 and +15 of exon 6.
T7 1574-1709 Sentence denotes Loss of the N-proteinase cleavage site explained the persistence of the pN-alpha 2(I)' chains in the dermis and in fibroblast cultures.
T8 1710-1839 Sentence denotes Collagen production by cultured dermal fibroblasts was doubled, possibly due to reduced feedback inhibition by the N-propeptides.
T9 1840-2012 Sentence denotes In contrast to previously reported cases of EDS-VIIB, Lys5 of the N-telopeptide was not deleted and appeared to take part in the formation of intramolecular cross-linkages.
T10 2013-2190 Sentence denotes However, increased collagen solubility and abnormal extraction profiles of the mutant type I collagen molecules indicated that collagen cross-linking was abnormal in the dermis.
T11 2191-2250 Sentence denotes The proband and her son were heterozygous for the mutation.
T12 2251-2432 Sentence denotes It is likely that the heterozygous loss of the N-proteinase cleavage site, with persistence of a shortened N-propeptide, was the major factor responsible for the EDS-VIIB phenotype.
T1 0-217 Sentence denotes A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII.
T2 218-462 Sentence denotes The dermal type I collagen of a patient with Ehlers-Danlos type VIIB (EDS-VIIB) contained normal alpha 2(I) chains and mutant pN-alpha 2(I)' chains in which the amino-terminal propeptide (N-propeptide) remained attached to the alpha 2(I) chain.
T3 463-534 Sentence denotes Similar alpha 2(I) chains were produced by cultured dermal fibroblasts.
T4 535-1013 Sentence denotes Amino acid sequencing of tryptic peptides, prepared from the mutant amino-terminal pN-alpha 2(I) CB1' peptide, indicated that five amino acids, including the N-proteinase (the specific proteinase that cleaves the procollagen N-propeptide) cleavage site, had been deleted from the junction of the N-propeptide and the N-telopeptide (the nonhelical domain at the amino-terminus of the alpha chains of fully processed type I polypeptide chains) of the mutant pro-alpha 2(I)' chain.
T5 1014-1300 Sentence denotes The corresponding 15 nucleotides, which were deleted from approximately half of the alpha 2(I) cDNA polymerase chain reaction products, of the alpha 2(I) cDNA polymerase chain reaction products, were encoded by the +1 to +15 nucleotides of exon 6 of the normal alpha 2(I) gene (COL1A2).
T6 1301-1573 Sentence denotes These 15 nucleotides were deleted in the splicing of alpha 2(I) pre-mRNA to mRNA as a result of inactivation of the 3' splice site of intron 5 by an AG to AC mutation and the activation of a cryptic AG splice acceptor site corresponding to positions +14 and +15 of exon 6.
T7 1574-1709 Sentence denotes Loss of the N-proteinase cleavage site explained the persistence of the pN-alpha 2(I)' chains in the dermis and in fibroblast cultures.
T8 1710-1839 Sentence denotes Collagen production by cultured dermal fibroblasts was doubled, possibly due to reduced feedback inhibition by the N-propeptides.
T9 1840-2012 Sentence denotes In contrast to previously reported cases of EDS-VIIB, Lys5 of the N-telopeptide was not deleted and appeared to take part in the formation of intramolecular cross-linkages.
T10 2013-2190 Sentence denotes However, increased collagen solubility and abnormal extraction profiles of the mutant type I collagen molecules indicated that collagen cross-linking was abnormal in the dermis.
T11 2191-2250 Sentence denotes The proband and her son were heterozygous for the mutation.
T12 2251-2432 Sentence denotes It is likely that the heterozygous loss of the N-proteinase cleavage site, with persistence of a shortened N-propeptide, was the major factor responsible for the EDS-VIIB phenotype.

Glycosmos6-MAT

Id Subject Object Predicate Lexical cue
T1 1675-1681 http://purl.obolibrary.org/obo/MAT_0000153 denotes dermis
T2 2183-2189 http://purl.obolibrary.org/obo/MAT_0000153 denotes dermis

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
1556139-0#67#73#gene1278 67-73 gene1278 denotes COL1A2
1556139-0#148#166#gene1278 148-166 gene1278 denotes type I procollagen
1556139-0#185#216#diseaseC0268345 185-216 diseaseC0268345 denotes Ehlers-Danlos syndrome type VII
67#73#gene1278185#216#diseaseC0268345 1556139-0#67#73#gene1278 1556139-0#185#216#diseaseC0268345 associated_with COL1A2,Ehlers-Danlos syndrome type VII
148#166#gene1278185#216#diseaseC0268345 1556139-0#148#166#gene1278 1556139-0#185#216#diseaseC0268345 associated_with type I procollagen,Ehlers-Danlos syndrome type VII

DisGeNET

Id Subject Object Predicate Lexical cue
T0 67-73 gene:1278 denotes COL1A2
T1 185-207 disease:C0013720 denotes Ehlers-Danlos syndrome
T2 148-166 gene:1278 denotes type I procollagen
T3 185-207 disease:C0013720 denotes Ehlers-Danlos syndrome
R1 T0 T1 associated_with COL1A2,Ehlers-Danlos syndrome
R2 T2 T3 associated_with type I procollagen,Ehlers-Danlos syndrome

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 185-216 Disease denotes Ehlers-Danlos syndrome type VII http://purl.obolibrary.org/obo/MONDO_0007525
T2 288-296 Disease denotes EDS-VIIB http://purl.obolibrary.org/obo/MONDO_0020522|http://purl.obolibrary.org/obo/MONDO_0040501
T4 1884-1892 Disease denotes EDS-VIIB http://purl.obolibrary.org/obo/MONDO_0020522|http://purl.obolibrary.org/obo/MONDO_0040501
T6 2413-2421 Disease denotes EDS-VIIB http://purl.obolibrary.org/obo/MONDO_0020522|http://purl.obolibrary.org/obo/MONDO_0040501

Anatomy-MAT

Id Subject Object Predicate Lexical cue mat_id
T1 1675-1681 Body_part denotes dermis http://purl.obolibrary.org/obo/MAT_0000153
T2 2183-2189 Body_part denotes dermis http://purl.obolibrary.org/obo/MAT_0000153

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 172-179 OrganismTaxon denotes patient 9606
T2 250-257 OrganismTaxon denotes patient 9606

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 522-533 Body_part denotes fibroblasts http://purl.obolibrary.org/obo/CL_0000057
T2 815-823 Body_part denotes junction http://purl.obolibrary.org/obo/UBERON_0007651
T3 1675-1681 Body_part denotes dermis http://purl.obolibrary.org/obo/UBERON_0002067
T4 1689-1699 Body_part denotes fibroblast http://purl.obolibrary.org/obo/CL_0000057
T5 1749-1760 Body_part denotes fibroblasts http://purl.obolibrary.org/obo/CL_0000057
T6 2183-2189 Body_part denotes dermis http://purl.obolibrary.org/obo/UBERON_0002067

CL-cell

Id Subject Object Predicate Lexical cue cl_id
T1 148-154 Cell denotes type I http://purl.obolibrary.org/obo/CL:0004120|http://purl.obolibrary.org/obo/CL:0004138
T3 229-235 Cell denotes type I http://purl.obolibrary.org/obo/CL:0004120|http://purl.obolibrary.org/obo/CL:0004138
T5 522-533 Cell denotes fibroblasts http://purl.obolibrary.org/obo/CL:0000057
T6 950-956 Cell denotes type I http://purl.obolibrary.org/obo/CL:0004120|http://purl.obolibrary.org/obo/CL:0004138
T8 1689-1699 Cell denotes fibroblast http://purl.obolibrary.org/obo/CL:0000057
T9 1749-1760 Cell denotes fibroblasts http://purl.obolibrary.org/obo/CL:0000057
T10 2099-2105 Cell denotes type I http://purl.obolibrary.org/obo/CL:0004120|http://purl.obolibrary.org/obo/CL:0004138