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PubMed:8175802 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
T1 0-65 Sentence denotes Mutation in the COL2A1 gene in a patient with hypochondrogenesis.
T2 66-177 Sentence denotes Expression of mutated COL2A1 gene is accompanied by expression of genes for type I procollagen in chondrocytes.
T3 178-278 Sentence denotes A new dominant mutation in the COL2A1 gene was found in a 38-week-old fetus with hypochondrogenesis.
T4 279-449 Sentence denotes Denaturing gradient gel electrophoresis was used to analyze all 44 exons coding for the triple-helical domain of COL2A1 gene and the corresponding exon-intron boundaries.
T5 450-509 Sentence denotes The technique detected a new sequence variation in exon 35.
T6 510-644 Sentence denotes Sequencing of exon 35 demonstrated a single base mutation that converted the codon for glycine at position 604 to a codon for alanine.
T7 645-866 Sentence denotes Electrophoresis of pepsin-digested collagen extracted from the diseased cartilage showed a doublet band of the alpha 1(II) chain of type II collagen and the presence of alpha 1(I) and alpha 2(I) chains of type I collagen.
T8 867-1073 Sentence denotes Two-dimensional analysis of cyanogen bromide peptides from the type II collagen revealed post-translational overmodification of peptides CB12, CB11, CB8, and CB10.5, whereas peptide CB9.7 migrated normally.
T9 1074-1181 Sentence denotes Microscopic examination of cartilage showed that the mutation altered the organization of the growth plate.
T10 1182-1268 Sentence denotes Also, articular chondrocytes contained large cisternae of rough endoplasmic reticulum.
T11 1269-1408 Sentence denotes The density of the extracellular matrix was reduced, and the intensity of the staining with an antibody to type II collagen was diminished.
T12 1409-1494 Sentence denotes In contrast, a significant staining with an antibody to type I collagen was observed.
T13 1495-1629 Sentence denotes In situ hybridization with cRNA probes revealed a significant level of alpha 1(I) mRNA in the cytoplasm of the patient's chondrocytes.
T14 1630-1700 Sentence denotes The signal for alpha 1(II) mRNA was about the same in control samples.
T15 1701-1854 Sentence denotes The results indicated, therefore, that the genes for both type I and type II procollagens were simultaneously expressed in chondrocytes from the patient.
T1 0-65 Sentence denotes Mutation in the COL2A1 gene in a patient with hypochondrogenesis.
T2 66-177 Sentence denotes Expression of mutated COL2A1 gene is accompanied by expression of genes for type I procollagen in chondrocytes.
T3 178-278 Sentence denotes A new dominant mutation in the COL2A1 gene was found in a 38-week-old fetus with hypochondrogenesis.
T4 279-449 Sentence denotes Denaturing gradient gel electrophoresis was used to analyze all 44 exons coding for the triple-helical domain of COL2A1 gene and the corresponding exon-intron boundaries.
T5 450-509 Sentence denotes The technique detected a new sequence variation in exon 35.
T6 510-644 Sentence denotes Sequencing of exon 35 demonstrated a single base mutation that converted the codon for glycine at position 604 to a codon for alanine.
T7 645-866 Sentence denotes Electrophoresis of pepsin-digested collagen extracted from the diseased cartilage showed a doublet band of the alpha 1(II) chain of type II collagen and the presence of alpha 1(I) and alpha 2(I) chains of type I collagen.
T8 867-1073 Sentence denotes Two-dimensional analysis of cyanogen bromide peptides from the type II collagen revealed post-translational overmodification of peptides CB12, CB11, CB8, and CB10.5, whereas peptide CB9.7 migrated normally.
T9 1074-1181 Sentence denotes Microscopic examination of cartilage showed that the mutation altered the organization of the growth plate.
T10 1182-1268 Sentence denotes Also, articular chondrocytes contained large cisternae of rough endoplasmic reticulum.
T11 1269-1408 Sentence denotes The density of the extracellular matrix was reduced, and the intensity of the staining with an antibody to type II collagen was diminished.
T12 1409-1494 Sentence denotes In contrast, a significant staining with an antibody to type I collagen was observed.
T13 1495-1629 Sentence denotes In situ hybridization with cRNA probes revealed a significant level of alpha 1(I) mRNA in the cytoplasm of the patient's chondrocytes.
T14 1630-1700 Sentence denotes The signal for alpha 1(II) mRNA was about the same in control samples.
T15 1701-1854 Sentence denotes The results indicated, therefore, that the genes for both type I and type II procollagens were simultaneously expressed in chondrocytes from the patient.

Glycosmos6-MAT

Id Subject Object Predicate Lexical cue
T1 248-253 http://purl.obolibrary.org/obo/MAT_0000399 denotes fetus
T2 717-726 http://purl.obolibrary.org/obo/MAT_0000189 denotes cartilage
T3 1101-1110 http://purl.obolibrary.org/obo/MAT_0000189 denotes cartilage

DisGeNET

Id Subject Object Predicate Lexical cue
T0 209-215 gene:1280 denotes COL2A1
T1 259-277 disease:C0542428 denotes hypochondrogenesis
R1 T0 T1 associated_with COL2A1,hypochondrogenesis

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
8175802-0#16#22#gene1280 16-22 gene1280 denotes COL2A1
8175802-0#88#94#gene1280 88-94 gene1280 denotes COL2A1
8175802-0#142#160#gene1278 142-160 gene1278 denotes type I procollagen
8175802-0#46#64#diseaseC0542428 46-64 diseaseC0542428 denotes hypochondrogenesis
16#22#gene128046#64#diseaseC0542428 8175802-0#16#22#gene1280 8175802-0#46#64#diseaseC0542428 associated_with COL2A1,hypochondrogenesis
88#94#gene128046#64#diseaseC0542428 8175802-0#88#94#gene1280 8175802-0#46#64#diseaseC0542428 associated_with COL2A1,hypochondrogenesis
142#160#gene127846#64#diseaseC0542428 8175802-0#142#160#gene1278 8175802-0#46#64#diseaseC0542428 associated_with type I procollagen,hypochondrogenesis

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 16-22 Disease denotes COL2A1 http://purl.obolibrary.org/obo/MONDO_0022800
T2 46-64 Disease denotes hypochondrogenesis http://purl.obolibrary.org/obo/MONDO_0008702|http://purl.obolibrary.org/obo/MONDO_0008703|http://purl.obolibrary.org/obo/MONDO_0019669
T5 88-94 Disease denotes COL2A1 http://purl.obolibrary.org/obo/MONDO_0022800
T6 209-215 Disease denotes COL2A1 http://purl.obolibrary.org/obo/MONDO_0022800
T7 259-277 Disease denotes hypochondrogenesis http://purl.obolibrary.org/obo/MONDO_0008702|http://purl.obolibrary.org/obo/MONDO_0008703|http://purl.obolibrary.org/obo/MONDO_0019669
T10 392-398 Disease denotes COL2A1 http://purl.obolibrary.org/obo/MONDO_0022800

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 33-40 OrganismTaxon denotes patient 9606
T2 597-604 OrganismTaxon denotes glycine 3846
T3 1846-1853 OrganismTaxon denotes patient 9606

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 164-176 Body_part denotes chondrocytes http://purl.obolibrary.org/obo/CL_0000138
T2 248-253 Body_part denotes fetus http://purl.obolibrary.org/obo/UBERON_0000323
T3 717-726 Body_part denotes cartilage http://purl.obolibrary.org/obo/UBERON_0002418|http://purl.obolibrary.org/obo/UBERON_0007844
T5 1101-1110 Body_part denotes cartilage http://purl.obolibrary.org/obo/UBERON_0002418|http://purl.obolibrary.org/obo/UBERON_0007844
T7 1168-1180 Body_part denotes growth plate http://purl.obolibrary.org/obo/UBERON_0002516|http://purl.obolibrary.org/obo/UBERON_0004129
T9 1188-1210 Body_part denotes articular chondrocytes http://purl.obolibrary.org/obo/CL_1001607
T10 1227-1236 Body_part denotes cisternae http://purl.obolibrary.org/obo/UBERON_0004050
T11 1258-1267 Body_part denotes reticulum http://purl.obolibrary.org/obo/UBERON_0007361
T12 1288-1308 Body_part denotes extracellular matrix http://purl.obolibrary.org/obo/GO_0031012
T13 1589-1598 Body_part denotes cytoplasm http://purl.obolibrary.org/obo/GO_0005737
T14 1616-1628 Body_part denotes chondrocytes http://purl.obolibrary.org/obo/CL_0000138
T15 1824-1836 Body_part denotes chondrocytes http://purl.obolibrary.org/obo/CL_0000138

Anatomy-MAT

Id Subject Object Predicate Lexical cue mat_id
T1 248-253 Body_part denotes fetus http://purl.obolibrary.org/obo/MAT_0000399
T2 717-726 Body_part denotes cartilage http://purl.obolibrary.org/obo/MAT_0000189
T3 1101-1110 Body_part denotes cartilage http://purl.obolibrary.org/obo/MAT_0000189

CL-cell

Id Subject Object Predicate Lexical cue cl_id
T1 142-148 Cell denotes type I http://purl.obolibrary.org/obo/CL:0004120|http://purl.obolibrary.org/obo/CL:0004138
T3 164-176 Cell denotes chondrocytes http://purl.obolibrary.org/obo/CL:0000138
T4 744-748 Cell denotes band http://purl.obolibrary.org/obo/CL:0000560
T5 850-856 Cell denotes type I http://purl.obolibrary.org/obo/CL:0004120|http://purl.obolibrary.org/obo/CL:0004138
T7 1188-1210 Cell denotes articular chondrocytes http://purl.obolibrary.org/obo/CL:1001607
T8 1465-1471 Cell denotes type I http://purl.obolibrary.org/obo/CL:0004120|http://purl.obolibrary.org/obo/CL:0004138
T10 1616-1628 Cell denotes chondrocytes http://purl.obolibrary.org/obo/CL:0000138
T11 1759-1765 Cell denotes type I http://purl.obolibrary.org/obo/CL:0004120|http://purl.obolibrary.org/obo/CL:0004138
T13 1824-1836 Cell denotes chondrocytes http://purl.obolibrary.org/obo/CL:0000138