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PubMed:1371116 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-136 Sentence denotes Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene.
TextSentencer_T2 137-274 Sentence denotes Sphingolipid activator proteins (SAPs) are small, nonenzymic glycoproteins that stimulate lysosomal degradation of various sphingolipids.
TextSentencer_T3 275-399 Sentence denotes SAP-1, SAP-2, and two additional potential activator proteins are derived from a common precursor by proteolytic processing.
TextSentencer_T4 400-583 Sentence denotes A severe case of sphingolipid storage disease that led to death within 16 weeks was attributed to a possible total deficiency of the SAPs generated by this gene (Harzer, K., Paton, B.
TextSentencer_T5 584-673 Sentence denotes C., Poulos, A., Kustermann-Kuhn, B., Roggendorf, W., Grisar, T., and Popp, M. (1989) Eur.
TextSentencer_T6 674-676 Sentence denotes J.
TextSentencer_T7 677-685 Sentence denotes Pediatr.
TextSentencer_T8 686-698 Sentence denotes 149, 31-39).
TextSentencer_T9 699-827 Sentence denotes Analysis of the SAP precursor cDNA from the patient and his fetal sibling showed an A to T transversion in the initiation codon.
TextSentencer_T10 828-945 Sentence denotes Allele-specific oligonucleotide hybridization revealed that both parents are heterozygous carriers for this mutation.
TextSentencer_T11 946-1093 Sentence denotes In pulse-chase experiments using antisera raised against SAP-1 or SAP-2, no cross-reacting material could be detected in the patients' fibroblasts.
T1 0-136 Sentence denotes Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene.
T2 137-274 Sentence denotes Sphingolipid activator proteins (SAPs) are small, nonenzymic glycoproteins that stimulate lysosomal degradation of various sphingolipids.
T3 275-399 Sentence denotes SAP-1, SAP-2, and two additional potential activator proteins are derived from a common precursor by proteolytic processing.
T4 400-583 Sentence denotes A severe case of sphingolipid storage disease that led to death within 16 weeks was attributed to a possible total deficiency of the SAPs generated by this gene (Harzer, K., Paton, B.
T5 584-673 Sentence denotes C., Poulos, A., Kustermann-Kuhn, B., Roggendorf, W., Grisar, T., and Popp, M. (1989) Eur.
T6 674-676 Sentence denotes J.
T7 677-685 Sentence denotes Pediatr.
T8 686-698 Sentence denotes 149, 31-39).
T9 699-827 Sentence denotes Analysis of the SAP precursor cDNA from the patient and his fetal sibling showed an A to T transversion in the initiation codon.
T10 828-945 Sentence denotes Allele-specific oligonucleotide hybridization revealed that both parents are heterozygous carriers for this mutation.
T11 946-1093 Sentence denotes In pulse-chase experiments using antisera raised against SAP-1 or SAP-2, no cross-reacting material could be detected in the patients' fibroblasts.

DisGeNet-2017-sample

Id Subject Object Predicate Lexical cue
T1683 533-536 gene:325 denotes SAP
T1684 417-445 disease:C0037899 denotes sphingolipid storage disease
R1 T1683 T1684 associated_with SAP,sphingolipid storage disease
R2 T1683 T1684 associated_with SAP,sphingolipid storage disease

DisGeNET

Id Subject Object Predicate Lexical cue
T0 533-537 gene:8935 denotes SAPs
T1 417-445 disease:C0037899 denotes sphingolipid storage disease
R1 T0 T1 associated_with SAPs,sphingolipid storage disease

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 743-750 OrganismTaxon denotes patient 9606

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 1081-1092 Body_part denotes fibroblasts http://purl.obolibrary.org/obo/CL_0000057

CL-cell

Id Subject Object Predicate Lexical cue cl_id
T1 1081-1092 Cell denotes fibroblasts http://purl.obolibrary.org/obo/CL:0000057