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PubMed:8702490 JSONTXT

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Glycosmos6-MAT

Id Subject Object Predicate Lexical cue
T1 709-718 http://purl.obolibrary.org/obo/MAT_0000189 denotes cartilage
T2 776-781 http://purl.obolibrary.org/obo/MAT_0000399 denotes fetus
T3 847-856 http://purl.obolibrary.org/obo/MAT_0000189 denotes cartilage

DisGeNET

Id Subject Object Predicate Lexical cue
T0 170-189 gene:1836 denotes sulfate transporter
T1 80-103 disease:C0265274 denotes achondrogenesis type 1B
T2 170-189 gene:1836 denotes sulfate transporter
T3 148-169 disease:C0220726 denotes diastrophic dysplasia
R1 T0 T1 associated_with sulfate transporter,achondrogenesis type 1B
R2 T2 T3 associated_with sulfate transporter,diastrophic dysplasia

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
8702490-0#170#189#gene1836 170-189 gene1836 denotes sulfate transporter
8702490-0#80#103#diseaseC0265274 80-103 diseaseC0265274 denotes achondrogenesis type 1B
8702490-0#148#169#diseaseC0220726 148-169 diseaseC0220726 denotes diastrophic dysplasia
170#189#gene183680#103#diseaseC0265274 8702490-0#170#189#gene1836 8702490-0#80#103#diseaseC0265274 associated_with sulfate transporter,achondrogenesis type 1B
170#189#gene1836148#169#diseaseC0220726 8702490-0#170#189#gene1836 8702490-0#148#169#diseaseC0220726 associated_with sulfate transporter,diastrophic dysplasia

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-190 Sentence denotes Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter.
TextSentencer_T2 191-403 Sentence denotes Achondrogenesis type 1B is an autosomal recessive, lethal chondrodysplasia caused by mutations in the gene encoding a sulfate/chloride antiporter of the cell membrane (Superti-Furga, A., Hästbacka, J., Wilcox, W.
TextSentencer_T3 404-416 Sentence denotes R., Cohn, D.
TextSentencer_T4 417-439 Sentence denotes H., van der Harten, J.
TextSentencer_T5 440-475 Sentence denotes J., Rossi, A., Blau, N., Rimoin, D.
TextSentencer_T6 476-505 Sentence denotes L., Steinmann, B., Lander, E.
TextSentencer_T7 506-539 Sentence denotes S., and Gitzelmann, R.(1996) Nat.
TextSentencer_T8 540-546 Sentence denotes Genet.
TextSentencer_T9 547-560 Sentence denotes 12, 100-102).
TextSentencer_T10 561-806 Sentence denotes To ascertain the consequences of the sulfate transport defect on proteoglycan synthesis, we studied the structure and sulfation of proteoglycans in cartilage tissue and in fibroblast and chondrocyte cultures from a fetus with achondrogenesis 1B.
TextSentencer_T11 807-958 Sentence denotes Proteoglycans extracted from epiphyseal cartilage and separated on agarose gels migrated more slowly than controls and stained poorly with alcian blue.
TextSentencer_T12 959-1159 Sentence denotes The patient's cultured cells showed reduced incorporation of [35S]sulfate relative to [3H]glucosamine, impaired uptake of sulfate, and higher resistance to chromate toxicity compared to control cells.
TextSentencer_T13 1160-1411 Sentence denotes Epiphyseal chondrocytes cultured in alginate beads synthesized proteoglycans of normal molecular size as judged by gel filtration chromatography, but undersulfated as judged by ion exchange chromatography and by the amount of nonsulfated disaccharide.
TextSentencer_T14 1412-1687 Sentence denotes High performance liquid chromatography analysis of chondroitinase-digested proteoglycans showed that sulfated disaccharides were present, although in reduced amounts, indicating that at least in vitro, other sources of sulfate can partially compensate for sulfate deficiency.
TextSentencer_T15 1688-1901 Sentence denotes A t1475c transition causing a L483P substitution in the eleventh transmembrane domain of the sulfate/chloride antiporter was present on both alleles in the patient who was the product of a consanguineous marriage.
TextSentencer_T16 1902-2136 Sentence denotes The results indicate that the defect of sulfate transport is expressed in both chondrocytes and fibroblasts and results in the synthesis of proteoglycans bearing glycosaminoglycan chains which are poorly sulfated but of normal length.
T1 0-190 Sentence denotes Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter.
T2 191-403 Sentence denotes Achondrogenesis type 1B is an autosomal recessive, lethal chondrodysplasia caused by mutations in the gene encoding a sulfate/chloride antiporter of the cell membrane (Superti-Furga, A., Hästbacka, J., Wilcox, W.
T3 404-416 Sentence denotes R., Cohn, D.
T4 417-439 Sentence denotes H., van der Harten, J.
T5 440-475 Sentence denotes J., Rossi, A., Blau, N., Rimoin, D.
T6 476-505 Sentence denotes L., Steinmann, B., Lander, E.
T7 506-539 Sentence denotes S., and Gitzelmann, R.(1996) Nat.
T8 540-546 Sentence denotes Genet.
T9 547-560 Sentence denotes 12, 100-102).
T10 561-806 Sentence denotes To ascertain the consequences of the sulfate transport defect on proteoglycan synthesis, we studied the structure and sulfation of proteoglycans in cartilage tissue and in fibroblast and chondrocyte cultures from a fetus with achondrogenesis 1B.
T11 807-958 Sentence denotes Proteoglycans extracted from epiphyseal cartilage and separated on agarose gels migrated more slowly than controls and stained poorly with alcian blue.
T12 959-1159 Sentence denotes The patient's cultured cells showed reduced incorporation of [35S]sulfate relative to [3H]glucosamine, impaired uptake of sulfate, and higher resistance to chromate toxicity compared to control cells.
T13 1160-1411 Sentence denotes Epiphyseal chondrocytes cultured in alginate beads synthesized proteoglycans of normal molecular size as judged by gel filtration chromatography, but undersulfated as judged by ion exchange chromatography and by the amount of nonsulfated disaccharide.
T14 1412-1687 Sentence denotes High performance liquid chromatography analysis of chondroitinase-digested proteoglycans showed that sulfated disaccharides were present, although in reduced amounts, indicating that at least in vitro, other sources of sulfate can partially compensate for sulfate deficiency.
T15 1688-1901 Sentence denotes A t1475c transition causing a L483P substitution in the eleventh transmembrane domain of the sulfate/chloride antiporter was present on both alleles in the patient who was the product of a consanguineous marriage.
T16 1902-2136 Sentence denotes The results indicate that the defect of sulfate transport is expressed in both chondrocytes and fibroblasts and results in the synthesis of proteoglycans bearing glycosaminoglycan chains which are poorly sulfated but of normal length.

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 709-725 http://purl.obolibrary.org/obo/UBERON_0002418 denotes cartilage tissue
PD-UBERON-AE-B_T2 719-725 http://purl.obolibrary.org/obo/UBERON_0000479 denotes tissue

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 148-169 ORDO:628 denotes diastrophic dysplasia
AB1 787-802 ORDO:932 denotes achondrogenesis

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 719-725 http://purl.obolibrary.org/obo/UBERON_0000479 denotes tissue
PD-UBERON-AE-B_T2 709-725 http://purl.obolibrary.org/obo/UBERON_0002418 denotes cartilage tissue

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 80-103 Disease denotes achondrogenesis type 1B http://purl.obolibrary.org/obo/MONDO_0010966
T2 148-169 Disease denotes diastrophic dysplasia http://purl.obolibrary.org/obo/MONDO_0009107
T3 191-214 Disease denotes Achondrogenesis type 1B http://purl.obolibrary.org/obo/MONDO_0010966
T4 242-265 Disease denotes lethal chondrodysplasia http://purl.obolibrary.org/obo/MONDO_0019718
T5 787-802 Disease denotes achondrogenesis http://purl.obolibrary.org/obo/MONDO_0019648

Anatomy-MAT

Id Subject Object Predicate Lexical cue mat_id
T1 709-718 Body_part denotes cartilage http://purl.obolibrary.org/obo/MAT_0000189
T2 776-781 Body_part denotes fetus http://purl.obolibrary.org/obo/MAT_0000399
T3 847-856 Body_part denotes cartilage http://purl.obolibrary.org/obo/MAT_0000189

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 67-74 OrganismTaxon denotes patient 9606
T2 444-452 OrganismTaxon denotes Rossi, A 34532
T3 1844-1851 OrganismTaxon denotes patient 9606

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 47-59 Body_part denotes chondrocytes http://purl.obolibrary.org/obo/CL_0000138
T2 344-357 Body_part denotes cell membrane http://purl.obolibrary.org/obo/GO_0005886
T3 709-725 Body_part denotes cartilage tissue http://purl.obolibrary.org/obo/UBERON_0002418
T4 733-743 Body_part denotes fibroblast http://purl.obolibrary.org/obo/CL_0000057
T5 748-759 Body_part denotes chondrocyte http://purl.obolibrary.org/obo/CL_0000138
T6 776-781 Body_part denotes fetus http://purl.obolibrary.org/obo/UBERON_0000323
T7 836-856 Body_part denotes epiphyseal cartilage http://purl.obolibrary.org/obo/UBERON_0002516
T8 1171-1183 Body_part denotes chondrocytes http://purl.obolibrary.org/obo/CL_0000138
T9 1753-1766 Body_part denotes transmembrane http://purl.obolibrary.org/obo/GO_0016020
T10 1981-1993 Body_part denotes chondrocytes http://purl.obolibrary.org/obo/CL_0000138
T11 1998-2009 Body_part denotes fibroblasts http://purl.obolibrary.org/obo/CL_0000057

CL-cell

Id Subject Object Predicate Lexical cue cl_id
T1 47-59 Cell denotes chondrocytes http://purl.obolibrary.org/obo/CL:0000138
T2 733-743 Cell denotes fibroblast http://purl.obolibrary.org/obo/CL:0000057
T3 748-759 Cell denotes chondrocyte http://purl.obolibrary.org/obo/CL:0000138
T4 973-987 Cell denotes cultured cells http://purl.obolibrary.org/obo/CL:0000010
T5 1171-1183 Cell denotes chondrocytes http://purl.obolibrary.org/obo/CL:0000138
T6 1981-1993 Cell denotes chondrocytes http://purl.obolibrary.org/obo/CL:0000138
T7 1998-2009 Cell denotes fibroblasts http://purl.obolibrary.org/obo/CL:0000057