> top > docs > PubMed:1577745 > annotations

PubMed:1577745 JSONTXT

Annnotations TAB JSON ListView MergeView

sentences

Id Subject Object Predicate Lexical cue
T1 0-33 Sentence denotes Ehlers Danlos syndrome type VIIB.
T2 34-234 Sentence denotes Incomplete cleavage of abnormal type I procollagen by N-proteinase in vitro results in the formation of copolymers of collagen and partially cleaved pNcollagen that are near circular in cross-section.
T3 235-394 Sentence denotes We have shown that a child with Ehlers Danlos syndrome (EDS) type VII has a G to A transition at the first nucleotide of intron 6 in one of her COL1A2 alleles.
T4 395-481 Sentence denotes Half of the cDNA clones prepared from the proband's pro alpha 2(I) mRNA lacked exon 6.
T5 482-693 Sentence denotes The type I procollagen secreted by the proband's dermal fibroblasts in culture was purified, and collagen fibrils were generated in vitro by cleavage of the procollagen with the procollagen N- and C-proteinases.
T6 694-808 Sentence denotes Incubation of the procollagen with N-proteinase resulted in a 1:1 mixture of pCcollagen and uncleaved procollagen.
T7 809-954 Sentence denotes Incubation of this mixture with C-proteinase generated collagen and abnormal pNcollagen (pNcollagen-ex6) that readily copolymerized into fibrils.
T8 955-1222 Sentence denotes By electron microscopy these fibrils resembled the hieroglyphic fibrils seen in the N-proteinase-deficient skin of dermatosparactic animals and humans and were distinct from the near circular cross-section fibrils seen in the tissues of individuals with EDS type VII.
T9 1223-1398 Sentence denotes Further incubation of the hieroglyphic fibrils with N-proteinase resulted in partial cleavage of the pNcollagen-ex6 in which the abnormal pN alpha 2(I) chains remained intact.
T10 1399-1475 Sentence denotes These fibrils were not hieroglyphic but were near circular in cross-section.
T11 1476-1661 Sentence denotes Fibrils formed from collagen and pNcollagen-ex6 that had been partially cleaved with elevated amounts of N-proteinase prior to fibril formation were also near circular in cross-section.
T12 1662-1832 Sentence denotes The results are consistent with a model of collagen fibril formation in which the intact N-propeptides are located exclusively at the surface of the hieroglyphic fibrils.
T13 1833-1963 Sentence denotes Partial cleavage of the pNcollagen-ex6 by N-proteinase allows the N-propeptides to be incorporated within the body of the fibrils.
T14 1964-2108 Sentence denotes The model provides an explanation for the morphology and molecular composition of collagen fibrils in the tissues of patients with EDS type VII.
T1 0-33 Sentence denotes Ehlers Danlos syndrome type VIIB.
T2 34-234 Sentence denotes Incomplete cleavage of abnormal type I procollagen by N-proteinase in vitro results in the formation of copolymers of collagen and partially cleaved pNcollagen that are near circular in cross-section.
T3 235-394 Sentence denotes We have shown that a child with Ehlers Danlos syndrome (EDS) type VII has a G to A transition at the first nucleotide of intron 6 in one of her COL1A2 alleles.
T4 395-481 Sentence denotes Half of the cDNA clones prepared from the proband's pro alpha 2(I) mRNA lacked exon 6.
T5 482-693 Sentence denotes The type I procollagen secreted by the proband's dermal fibroblasts in culture was purified, and collagen fibrils were generated in vitro by cleavage of the procollagen with the procollagen N- and C-proteinases.
T6 694-808 Sentence denotes Incubation of the procollagen with N-proteinase resulted in a 1:1 mixture of pCcollagen and uncleaved procollagen.
T7 809-954 Sentence denotes Incubation of this mixture with C-proteinase generated collagen and abnormal pNcollagen (pNcollagen-ex6) that readily copolymerized into fibrils.
T8 955-1222 Sentence denotes By electron microscopy these fibrils resembled the hieroglyphic fibrils seen in the N-proteinase-deficient skin of dermatosparactic animals and humans and were distinct from the near circular cross-section fibrils seen in the tissues of individuals with EDS type VII.
T9 1223-1398 Sentence denotes Further incubation of the hieroglyphic fibrils with N-proteinase resulted in partial cleavage of the pNcollagen-ex6 in which the abnormal pN alpha 2(I) chains remained intact.
T10 1399-1475 Sentence denotes These fibrils were not hieroglyphic but were near circular in cross-section.
T11 1476-1661 Sentence denotes Fibrils formed from collagen and pNcollagen-ex6 that had been partially cleaved with elevated amounts of N-proteinase prior to fibril formation were also near circular in cross-section.
T12 1662-1832 Sentence denotes The results are consistent with a model of collagen fibril formation in which the intact N-propeptides are located exclusively at the surface of the hieroglyphic fibrils.
T13 1833-1963 Sentence denotes Partial cleavage of the pNcollagen-ex6 by N-proteinase allows the N-propeptides to be incorporated within the body of the fibrils.
T14 1964-2108 Sentence denotes The model provides an explanation for the morphology and molecular composition of collagen fibrils in the tissues of patients with EDS type VII.

Glycosmos6-MAT

Id Subject Object Predicate Lexical cue
T1 1062-1066 http://purl.obolibrary.org/obo/MAT_0000284 denotes skin

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
1577745-1#144#150#gene1278 379-385 gene1278 denotes COL1A2
1577745-1#32#54#diseaseC0013720 267-289 diseaseC0013720 denotes Ehlers Danlos syndrome
1577745-1#56#59#diseaseC0013720 291-294 diseaseC0013720 denotes EDS
144#150#gene127832#54#diseaseC0013720 1577745-1#144#150#gene1278 1577745-1#32#54#diseaseC0013720 associated_with COL1A2,Ehlers Danlos syndrome
144#150#gene127856#59#diseaseC0013720 1577745-1#144#150#gene1278 1577745-1#56#59#diseaseC0013720 associated_with COL1A2,EDS

DisGeNET

Id Subject Object Predicate Lexical cue
T0 379-385 gene:1278 denotes COL1A2
T1 267-289 disease:C0013720 denotes Ehlers Danlos syndrome
T2 379-385 gene:1278 denotes COL1A2
T3 291-294 disease:C0013720 denotes EDS
R1 T0 T1 associated_with COL1A2,Ehlers Danlos syndrome
R2 T2 T3 associated_with COL1A2,EDS

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 0-22 Disease denotes Ehlers Danlos syndrome http://purl.obolibrary.org/obo/MONDO_0020066
T2 267-289 Disease denotes Ehlers Danlos syndrome http://purl.obolibrary.org/obo/MONDO_0020066
T3 291-294 Disease denotes EDS http://purl.obolibrary.org/obo/MONDO_0020066
T4 1209-1212 Disease denotes EDS http://purl.obolibrary.org/obo/MONDO_0020066
T5 2095-2098 Disease denotes EDS http://purl.obolibrary.org/obo/MONDO_0020066

Anatomy-MAT

Id Subject Object Predicate Lexical cue mat_id
T1 1062-1066 Body_part denotes skin http://purl.obolibrary.org/obo/MAT_0000284

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 538-549 Body_part denotes fibroblasts http://purl.obolibrary.org/obo/CL_0000057
T2 1062-1066 Body_part denotes skin http://purl.obolibrary.org/obo/UBERON_0000014|http://purl.obolibrary.org/obo/UBERON_0001003|http://purl.obolibrary.org/obo/UBERON_0002097|http://purl.obolibrary.org/obo/UBERON_0002199
T6 1603-1609 Body_part denotes fibril http://purl.obolibrary.org/obo/GO_0099512
T7 1714-1720 Body_part denotes fibril http://purl.obolibrary.org/obo/GO_0099512

CL-cell

Id Subject Object Predicate Lexical cue cl_id
T1 66-72 Cell denotes type I http://purl.obolibrary.org/obo/CL:0004120|http://purl.obolibrary.org/obo/CL:0004138
T3 486-492 Cell denotes type I http://purl.obolibrary.org/obo/CL:0004120|http://purl.obolibrary.org/obo/CL:0004138
T5 538-549 Cell denotes fibroblasts http://purl.obolibrary.org/obo/CL:0000057