Missense mutation (Gly----Glu188) of human lipoprotein lipase imparting functional deficiency
about
Regulation of the synthesis, processing and translocation of lipoprotein lipaseThe lipoprotein lipase Gly188----Glu mutation in South Africans of Indian descent: evidence suggesting common origins and an increased frequency.Assessment of French patients with LPL deficiency for French Canadian mutations.A detailed genome-wide reconstruction of mouse metabolism based on human Recon 1.Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities.Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes.Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase geneChylomicron-retinyl palmitate clearance in type I hyperlipidemic familiesPhenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutationLinkage of low-density lipoprotein size to the lipoprotein lipase gene in heterozygous lipoprotein lipase deficiencyGenetic determinants of plasma triglyceridesCompound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2 (AG----AA) in the lipoprotein lipase gene.Molecular studies on primary lipoprotein lipase (LPL) deficiency. One base deletion (G916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript.Homozygous missense mutation (G56R) in glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPI-HBP1) in two siblings with fasting chylomicronemia (MIM 144650).An increased burden of common and rare lipid-associated risk alleles contributes to the phenotypic spectrum of hypertriglyceridemiaAssociations of three lipoprotein lipase gene polymorphisms, lipid profiles and coronary artery disease.Expression of a mutant DNA topoisomerase II in CCRF-CEM human leukemic cells selected for resistance to teniposide.A novel method of identifying genetic mutations using an electrochemical DNA array.Severe Hypertriglyceridemia due to a novel p.Q240H mutation in the Lipoprotein Lipase gene.Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin.Direct detection and automated sequencing of individual alleles after electrophoretic strand separation: identification of a common nonsense mutation in exon 9 of the human lipoprotein lipase geneLipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene.We FRET so You Don't Have To: New Models of the Lipoprotein Lipase Dimer.
P2860
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P2860
Missense mutation (Gly----Glu188) of human lipoprotein lipase imparting functional deficiency
description
1990 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
article publié dans la revue scientifique Journal of Biological Chemistry
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artículu científicu espublizáu en 1990
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im April 1990 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
@en
vedecký článok (publikovaný 1990/04/05)
@sk
vědecký článek publikovaný v roce 1990
@cs
wetenschappelijk artikel (gepubliceerd op 1990/04/05)
@nl
наукова стаття, опублікована у квітні 1990
@uk
name
Missense mutation (Gly----Glu1 ...... mparting functional deficiency
@ast
Missense mutation (Gly----Glu1 ...... mparting functional deficiency
@en
Missense mutation (Gly----Glu1 ...... mparting functional deficiency
@nl
type
label
Missense mutation (Gly----Glu1 ...... mparting functional deficiency
@ast
Missense mutation (Gly----Glu1 ...... mparting functional deficiency
@en
Missense mutation (Gly----Glu1 ...... mparting functional deficiency
@nl
prefLabel
Missense mutation (Gly----Glu1 ...... mparting functional deficiency
@ast
Missense mutation (Gly----Glu1 ...... mparting functional deficiency
@en
Missense mutation (Gly----Glu1 ...... mparting functional deficiency
@nl
P2093
P1476
Missense mutation (Gly----Glu1 ...... mparting functional deficiency
@en
P2093
P304
P407
P577
1990-04-05T00:00:00Z