Gene-environment interaction in the conversion of a mild-to-severe phenotype in a patient homozygous for a Ser172-->Cys mutation in the lipoprotein lipase gene

scientific article

Gene-environment interaction in the conversion of a mild-to-severe phenotype in a patient homozygous for a Ser172-->Cys mutation in the lipoprotein lipase gene is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1172/JCI116414
P932PMC publication ID288190
P698PubMed publication ID8486765
P5875ResearchGate publication ID14712081

P2093author name stringY Ma
M R Hayden
J D Brunzell
D Ginzinger
J Frohlich
M S Liu
P2860cites workEffect of estrogen on post-heparin lipolytic activity. Selective decline in hepatic triglyceride lipaseQ28330981
An LFA-3 cDNA encodes a phospholipid-linked membrane protein homologous to its receptor CD2Q29614365
A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestriesQ34260071
Sex steroid influence on triglyceride metabolismQ34482833
Relationship between lipoprotein lipase activity and plasma sex steroid level in obese womenQ34563188
Molecular genetics of human lipoprotein lipase deficiencyQ35797235
Two naturally occurring mutations at the first and second bases of codon aspartic acid 156 in the proposed catalytic triad of human lipoprotein lipase. In vivo evidence that aspartic acid 156 is essential for catalysisQ38330905
Role of lipoprotein lipase activity on lipoprotein metabolism and the fate of circulating triglycerides in pregnancyQ39644082
Lipid Metabolism in Pregnancy. III. Altered Lipid Composition in Intermediate, Very Low, Low, and High-Density Lipoprotein FractionsQ39952841
The hyperlipidemia of pregnancy in normal and complicated pregnanciesQ40207684
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 originQ40348644
Two polymorphisms in the human lipoprotein lipase (LPL) geneQ40390698
Hind III RFLP in the lipoprotein lipase gene, (LPL).Q40391564
Quantitative determination of serum triglycerides by the use of enzymesQ43418524
Management of patients with severe hypertriglyceridaemia during pregnancy: report of two cases with familial lipoprotein lipase deficiency.Q43698830
Human adipose tissue lipoprotein lipase: changes with feeding and relation to postheparin plasma enzymeQ43763671
Human lipoprotein lipase complementary DNA sequenceQ48347640
Effects of estrogen on very-low-density lipoprotein triacylglycerol metabolism in chicks.Q51615090
Hyperlipidemia, pregnancy and pancreatitis.Q51623720
Pancreatitis, familial hypertriglyceridemia, and pregnancy.Q51659517
Mapping of the epitope on lipoprotein lipase recognized by a monoclonal antibody (5D2) which inhibits lipase activityQ57840170
An efficient salt-chloroform extraction of DNA from blood and tissuesQ69445657
Detection and characterization of the heterozygote state for lipoprotein lipase deficiencyQ69608002
Enzymatic determination of total serum cholesterolQ69744405
Milk and plasma lipid composition in a lactating patient with type I hyperlipoproteinemiaQ70047032
Population-based lipoprotein lipid reference values for pregnant women compared to nonpregnant women classified by sex hormone usageQ70388918
Excessive hypertriglyceridemia and pancreatitis in pregnancy. Association with deficiency of lipoprotein lipaseQ70713189
Absence of serum-stimulated lipase activity and altered lipid content in milk from a patient with type I hyperlipoproteinaemiaQ71080781
Plasma triglyceride turnover during use of oral contraceptivesQ93706056
P433issue5
P407language of work or nameEnglishQ1860
P921main subjectpatientQ181600
lipoproteinQ28350
phenotypeQ104053
homozygosityQ114049690
P304page(s)1953-1958
P577publication date1993-05-01
P1433published inJournal of Clinical InvestigationQ3186904
P1476titleGene-environment interaction in the conversion of a mild-to-severe phenotype in a patient homozygous for a Ser172-->Cys mutation in the lipoprotein lipase gene
P478volume91

Reverse relations

cites work (P2860)
Q74768683Acute hypertriglyceridaemic pancreatitis in a pregnant Indian: a new lipoprotein lipase gene mutation
Q43738059Endothelial function and myogenic reactivity in small mesenteric arteries of hyperlipidemic pregnant rats
Q51562313Evidence of a major locus for lipoprotein lipase (LPL) activity in addition to a pleiotropic locus for both LPL and fasting insulin: results from the HERITAGE Family Study.
Q51094640Familial lipoprotein lipase deficiency in infancy: clinical, biochemical, and molecular study.
Q90245886Gene-environment interactions due to quantile-specific heritability of triglyceride and VLDL concentrations
Q28548394Genetic Variants Associated with Gestational Hypertriglyceridemia and Pancreatitis
Q92803311Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia-induced acute pancreatitis in pregnancy
Q33945290Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6.
Q40396452Lipoprotein metabolism of pregnant women is associated with both their genetic polymorphisms and those of their newborn children
Q73589367Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr302>Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPL(Olbia))
Q41503170Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries
Q44099116Severe hyperlipidemia-associated pregnancy: prevention in subsequent pregnancy by diet
Q35767590Severe hypertriglyceridemia, reduced high density lipoprotein, and neonatal death in lipoprotein lipase knockout mice. Mild hypertriglyceridemia with impaired very low density lipoprotein clearance in heterozygotes
Q28286373The familial chylomicronemia syndrome
Q40964824The genetic determinants of plasma cholesterol and response to diet