A compound heterozygote for hepatic lipase gene mutations Leu334-->Phe and Thr383-->Met: correlation between hepatic lipase activity and phenotypic expression.
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Summary
It is demonstrated that lipoprotein changes occurring in HL deficiency are difficult to identify and support the hypothesis that HL is important in HDL remodeling and metabolism in vivo.
- Type
- article
- Published
- 1996-04-01
- Cited by
- 55
- References
- 51
- Access
- Open access
- OpenAlex
- https://openalex.org/W1793465713
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:7544454
Keywords
Mutant, Molecular biology, Complementary DNA, Wild type, Lipoprotein lipase
References
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- Determinants of LDL subfraction distribution and concentrations in young normolipidemic subjects.
- Lipoprotein metabolism during acute inhibition of hepatic triglyceride lipase in the cynomolgus monkey.
- Studies on the function of hepatic lipase in the cat after immunological blockade of the enzyme in vivo.
- Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction.
- On the metabolic function of heparin-releasable liver lipase.
- Biotinylation of Oligonucleotides Using a Water Soluble Biotin Ester
- Molecular characterization of human hepatic lipase deficiency. In vitro expression of two naturally occurring mutations.
- A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E.
Cited by
- Characterization of a novel mutation causing hepatic lipase deficiency among French Canadians Published, JLR Papers in Press, June 1, 2003. DOI 10.1194/jlr.M200479-JLR200
- Genetics of metabolic syndrome and related traits
- The T allele of the hepatic lipase promoter variant C-480T is associated with increased fasting lipids and HDL and increased preprandial and postprandial LpCIII:B : European Atherosclerosis Research Study (EARS) II.
- Hepatic lipase, genetically elevated high-density lipoprotein, and risk of ischemic cardiovascular disease.
- A novel method for measuring human hepatic lipase activity in postheparin plasma Published, JLR Papers in Press, November 7, 2006.
- Polymorphisms in the hepatic lipase gene affect plasma HDL-cholesterol levels in a Turkish population[S]
- A new enzyme-linked immunosorbent assay system for human hepatic triglyceride lipase.
- Polyacrylamide gradient gel electrophoresis of lipoprotein subclasses.
- Low density lipoprotein (LDL) subfractions during pregnancy: accumulation of buoyant LDL with advancing gestation.
- Mutations in cholesteryl ester transfer protein and hepatic lipase in a North American population.
- Reverse cholesterol transport--a review of the process and its clinical implications.
- Lipoprotein Lipase and Cholesterol Transfer Activities of Lean and Obese Zucker Rats
- Mouse hepatic lipase alleles with variable effects on lipoprotein composition and size[S]
- Joint Linkage and Association Analysis of the Hepatic Lipase Promoter Polymorphism and Lipoprotein Size Phenotypes
- Fluorescence In Situ Hybridization Analysis of Pancreatoblastoma
- Hepatic lipase promoter activity is reduced by the C-480T and G-216A substitutions present in the common LIPC gene variant, and is increased by Upstream Stimulatory Factor.
- Cholesteryl Ester Transfer Protein Mutations, Protein Activity and HDL-Cholesterol Concentration
- Elevated LDL triglyceride concentrations in subjects heterozygous for the hepatic lipase S267F variant.
- Racial differences in polymorphic allele heterozygosities of the human hepatic triglyceride lipase gene.
- Pancreatitis caused by hypertriglyceridemia in a patient compound heterozygous for Leu334Phe and -514C-->T in the hepatic lipase gene.
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