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PubMed:1702428 JSONTXT 28 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.