> top > docs > PubMed:1702428 > annotations

PubMed:1702428 JSONTXT

Annnotations TAB JSON ListView MergeView

GlyCosmos6-Glycan-Motif-Image

Id Subject Object Predicate Lexical cue image
T1 405-412 Glycan_Motif denotes heparin https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G54161DR|https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G00021MO

sentences

Id Subject Object Predicate Lexical cue
T1 0-141 Sentence denotes Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome.
T2 142-303 Sentence denotes The molecular defects resulting in a deficiency of lipoprotein lipase activity in a patient with the familial hyperchylomicronemia syndrome have been identified.
T3 304-464 Sentence denotes Increased lipoprotein lipase mass but undetectable lipoprotein lipase activity in the patient's post-heparin plasma indicate the presence of an inactive enzyme.
T4 465-660 Sentence denotes No major gene rearrangements were identified by Southern blot analysis of the patient's lipoprotein lipase gene and Northern blot hybridization revealed an lipoprotein lipase mRNA of normal size.
T5 661-784 Sentence denotes Sequence analysis of polymerase chain reaction-amplified lipoprotein lipase cDNA identified two separate allelic mutations.
T6 785-949 Sentence denotes A T to C transition at nucleotide 836 results in the substitution of Ile194, located near the putative interfacial recognition site of lipoprotein lipase, to a Thr.
T7 950-1073 Sentence denotes A G to A mutation at base 983 leads to the substitution of a His for Arg243 and the loss of a HhaI restriction enzyme site.
T8 1074-1179 Sentence denotes Arg243 is near His241, which has been postulated to be part of the catalytic triad of lipoprotein lipase.
T9 1180-1323 Sentence denotes Direct sequencing of amplified cDNA and digestion with HhaI established that the proband is a compound heterozygote for each base substitution.
T10 1324-1546 Sentence denotes Transient expression of each of the mutant lipoprotein lipase cDNAs in human embryonal kidney-293 cells resulted in the synthesis of enzymically inactive proteins, establishing the functional significance of the mutations.
T11 1547-1834 Sentence denotes We conclude that the Ile194 to Thr194 and Arg243 to His243 substitutions occur in lipoprotein lipase regions essential for normal enzyme activity and each mutation results in the expression of a nonfunctional enzyme leading to the hyperchylomicronemia syndrome manifested in the proband.
T1 0-141 Sentence denotes Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome.
T2 142-303 Sentence denotes The molecular defects resulting in a deficiency of lipoprotein lipase activity in a patient with the familial hyperchylomicronemia syndrome have been identified.
T3 304-464 Sentence denotes Increased lipoprotein lipase mass but undetectable lipoprotein lipase activity in the patient's post-heparin plasma indicate the presence of an inactive enzyme.
T4 465-660 Sentence denotes No major gene rearrangements were identified by Southern blot analysis of the patient's lipoprotein lipase gene and Northern blot hybridization revealed an lipoprotein lipase mRNA of normal size.
T5 661-784 Sentence denotes Sequence analysis of polymerase chain reaction-amplified lipoprotein lipase cDNA identified two separate allelic mutations.
T6 785-949 Sentence denotes A T to C transition at nucleotide 836 results in the substitution of Ile194, located near the putative interfacial recognition site of lipoprotein lipase, to a Thr.
T7 950-1073 Sentence denotes A G to A mutation at base 983 leads to the substitution of a His for Arg243 and the loss of a HhaI restriction enzyme site.
T8 1074-1179 Sentence denotes Arg243 is near His241, which has been postulated to be part of the catalytic triad of lipoprotein lipase.
T9 1180-1323 Sentence denotes Direct sequencing of amplified cDNA and digestion with HhaI established that the proband is a compound heterozygote for each base substitution.
T10 1324-1546 Sentence denotes Transient expression of each of the mutant lipoprotein lipase cDNAs in human embryonal kidney-293 cells resulted in the synthesis of enzymically inactive proteins, establishing the functional significance of the mutations.
T11 1547-1834 Sentence denotes We conclude that the Ile194 to Thr194 and Arg243 to His243 substitutions occur in lipoprotein lipase regions essential for normal enzyme activity and each mutation results in the expression of a nonfunctional enzyme leading to the hyperchylomicronemia syndrome manifested in the proband.

GlyCosmos6-Glycan-Motif-Structure

Id Subject Object Predicate Lexical cue
T1 405-412 https://glytoucan.org/Structures/Glycans/G00021MO denotes heparin
T2 405-412 https://glytoucan.org/Structures/Glycans/G54161DR denotes heparin

Glycosmos6-MAT

Id Subject Object Predicate Lexical cue
T1 1411-1417 http://purl.obolibrary.org/obo/MAT_0000119 denotes kidney

DisGeNET

Id Subject Object Predicate Lexical cue
T0 56-74 gene:4023 denotes lipoprotein lipase
T1 102-140 disease:C2931862 denotes familial hyperchylomicronemia syndrome
T2 193-211 gene:4023 denotes lipoprotein lipase
T3 243-281 disease:C2931862 denotes familial hyperchylomicronemia syndrome
R1 T0 T1 associated_with lipoprotein lipase,familial hyperchylomicronemia syndrome
R2 T2 T3 associated_with lipoprotein lipase,familial hyperchylomicronemia syndrome

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 252-272 HP_0012238 denotes hyperchylomicronemia
T2 1778-1798 HP_0012238 denotes hyperchylomicronemia
T1 252-272 HP_0012238 denotes hyperchylomicronemia
T2 1778-1798 HP_0012238 denotes hyperchylomicronemia

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
1702428-0#56#74#gene4023 855-938 gene4023 denotes le194, located near the putative interfacial recognition site of lipoprotein lipase
1702428-0#102#140#diseaseC2931862 1296-1807 diseaseC2931862 denotes for each base substitution. Transient expression of each of the mutant lipoprotein lipase cDNAs in human embryonal kidney-293 cells resulted in the synthesis of enzymically inactive proteins, establishing the functional significance of the mutations. We conclude that the Ile194 to Thr194 and Arg243 to His243 substitutions occur in lipoprotein lipase regions essential for normal enzyme activity and each mutation results in the expression of a nonfunctional enzyme leading to the hyperchylomicronemia syndrome
1702428-10#82#100#gene4023 1629-1647 gene4023 denotes lipoprotein lipase
1702428-10#231#251#diseaseC0023817 1778-1798 diseaseC0023817 denotes hyperchylomicronemia
56#74#gene4023102#140#diseaseC2931862 1702428-0#56#74#gene4023 1702428-0#102#140#diseaseC2931862 associated_with "le194, located near the putative interfacial recognition site of lipoprotein lipase","for each base substitution. Transient expression of each of the mutant lipoprotein lipase cDNAs in human embryonal kidney-293 cells resulted in the synthesis of enzymically inactive proteins, establishing the functional significance of the mutations. We conclude that the Ile194 to Thr194 and Arg243 to His243 substitutions occur in lipoprotein lipase regions essential for normal enzyme activity and each mutation results in the expression of a nonfunctional enzyme leading to the hyperchylomicronemia syndrome"
82#100#gene4023231#251#diseaseC0023817 1702428-10#82#100#gene4023 1702428-10#231#251#diseaseC0023817 associated_with lipoprotein lipase,hyperchylomicronemia

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 252-272 HP:0012238 denotes hyperchylomicronemia
TI1 111-131 HP:0012238 denotes hyperchylomicronemia
AB2 1778-1798 HP:0012238 denotes hyperchylomicronemia

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 102-131 Disease denotes familial hyperchylomicronemia http://purl.obolibrary.org/obo/MONDO_0009387
T2 243-272 Disease denotes familial hyperchylomicronemia http://purl.obolibrary.org/obo/MONDO_0009387
T3 1778-1798 Disease denotes hyperchylomicronemia http://purl.obolibrary.org/obo/MONDO_0009387

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 85-92 OrganismTaxon denotes patient 9606
T2 226-233 OrganismTaxon denotes patient 9606
T3 1395-1400 OrganismTaxon denotes human 9606

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 413-419 Body_part denotes plasma http://purl.obolibrary.org/obo/UBERON_0001969
T2 1401-1417 Body_part denotes embryonal kidney http://purl.obolibrary.org/obo/UBERON_0002120

Anatomy-MAT

Id Subject Object Predicate Lexical cue mat_id
T1 1411-1417 Body_part denotes kidney http://purl.obolibrary.org/obo/MAT_0000119

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T1 111-131 Phenotype denotes hyperchylomicronemia HP:0012238
T2 252-272 Phenotype denotes hyperchylomicronemia HP:0012238
T3 1778-1798 Phenotype denotes hyperchylomicronemia HP:0012238