|
Hypertriglyceridemia
|
0.600 |
AlteredExpression
|
phenotype |
BEFREE |
apoB = apolipoprotein B; apoC-III = apolipoprotein CIII; ASO = antisense oligonucleotide; FCS = familial chylomicronemia syndrome; HTG = hypertriglyceridemia; LPL = lipoprotein lipase; LPLD = lipoprotein lipase deficiency.
|
30183397 |
2018 |
|
Hypertriglyceridemia
|
0.600 |
AlteredExpression
|
phenotype |
BEFREE |
We conditionally knocked out lipoprotein lipase in differentiated striated muscle tissue lowering striated muscle lipoprotein lipase activity causing hypertriglyceridemia.
|
29304082 |
2018 |
|
Hypertriglyceridemia
|
0.600 |
Biomarker
|
phenotype |
BEFREE |
Individuals lacking LPL suffer from severe hypertriglyceridemia, a risk factor for acute pancreatitis.
|
30318473 |
2018 |
|
Hypertriglyceridemia
|
0.600 |
Biomarker
|
phenotype |
BEFREE |
These results demonstrate that LPL gene plays a major role in extreme HTG associated with hyperchylomicronemia, although the condition may not cause severe atherosclerosis.
|
29153744 |
2018 |
|
Hypertriglyceridemia
|
0.600 |
AlteredExpression
|
phenotype |
BEFREE |
Patients with GPIHBP1 deficiency have low plasma levels of lipoprotein lipase, impaired intravascular hydrolysis of triglycerides, and severe hypertriglyceridemia (chylomicronemia).
|
28402248 |
2017 |
|
Hypertriglyceridemia
|
0.600 |
GeneticVariation
|
phenotype |
BEFREE |
Because LPL gene Pvu II restriction fragment length polymorphism polymorphism was associated with an elevated risk of HT, the P+ allele carriers of the LPL gene might be predisposed to HT.
|
28502159 |
2017 |
|
Hypertriglyceridemia
|
0.600 |
GeneticVariation
|
phenotype |
BEFREE |
Rare variants in LPL and a common variant in APOA5 were more commonly found in Thai subjects with severe hypertriglyceridemia.
|
27206937 |
2017 |
|
Hypertriglyceridemia
|
0.600 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in LPL or its activator apolipoprotein C-II cause hypertriglyceridemia in humans and animal models.
|
28576574 |
2017 |
|
Hypertriglyceridemia
|
0.600 |
GeneticVariation
|
phenotype |
BEFREE |
The aim of this study was to identify novel mutations in the LPL gene causing type 1 hyperlipoproteinemia and to understand the molecular mechanisms underlying the severe hypertriglyceridemia.
|
27578112 |
2017 |
|
Hypertriglyceridemia
|
0.600 |
AlteredExpression
|
phenotype |
BEFREE |
Lycopene amends LPS induced oxidative stress and hypertriglyceridemia via modulating PCSK-9 expression and Apo-CIII mediated lipoprotein lipase activity.
|
29174038 |
2017 |
|
Hypertriglyceridemia
|
0.600 |
GeneticVariation
|
phenotype |
BEFREE |
Herein we have systematically characterized two novel loss-of-function mutations in LPL from a Chinese family in which afflicted members were manifested by severe hypertriglyceridemia and recurrent pancreatitis.
|
28548960 |
2017 |
|
Hypertriglyceridemia
|
0.600 |
GeneticVariation
|
phenotype |
BEFREE |
Lipoprotein lipase (LPL) deficiency is an autosomal recessive genetic disorder characterized by extreme hypertriglyceridemia, with no cure presently available.
|
28969646 |
2017 |
|
Hypertriglyceridemia
|
0.600 |
GeneticVariation
|
phenotype |
BEFREE |
Less than one in five subjects with triglycerides >500 mg/dL and no major secondary cause for HTG may carry a rare pathogenic mutation in LPL, APOA5, LMF1, or GPIHBP1.
|
27578109 |
2017 |
|
Hypertriglyceridemia
|
0.600 |
Biomarker
|
phenotype |
BEFREE |
Many different GPIHBP1 mutations have been identified in patients with severe hypertriglyceridemia (chylomicronemia), the majority of which interfere with folding of the protein and abolish its capacity to bind and transport LPL.
|
27185325 |
2016 |
|
Hypertriglyceridemia
|
0.600 |
GeneticVariation
|
phenotype |
BEFREE |
These results indicated that the compound mutation was associated with hypertriglyceridemia due to both LPL deficiency and defective LPL function.
|
26892137 |
2016 |
|
Hypertriglyceridemia
|
0.600 |
GeneticVariation
|
phenotype |
BEFREE |
The genetic testing revealed compound heterozygote mutations in the lipoprotein lipase (LPL) gene for patient A and two known compound heterozygote LPL gene mutations for the patient B. FCS is the most dramatic example of severe hypertriglyceridemia.
|
27153815 |
2016 |
|
Hypertriglyceridemia
|
0.600 |
GeneticVariation
|
phenotype |
BEFREE |
Monogenic hypertriglyceridemia is the result of mutations in genes that regulate the metabolism of triglyceride rich lipoproteins (eg LPL, APOC2, APOA5, LMF1, GPIHBP1).
|
26546829 |
2016 |
|
Hypertriglyceridemia
|
0.600 |
GeneticVariation
|
phenotype |
BEFREE |
JCL Roundtable: Hypertriglyceridemia due to defects in lipoprotein lipase function.
|
26073384 |
2016 |
|
Hypertriglyceridemia
|
0.600 |
Biomarker
|
phenotype |
BEFREE |
We sequenced the candidate genes for HTG (LPL, APOC2, APOA5, GPIHBP1, LMF1) and HDL deficiency (LCAT, ABCA1 and APOA1), analyzed HDL subpopulations, measured cholesterol efflux capacity (CEC) of sera and constructed a model of the mutant apoA-I.
|
26687706 |
2016 |
|
Hypertriglyceridemia
|
0.600 |
GeneticVariation
|
phenotype |
BEFREE |
To elucidate the underlying mechanism of gestational hypertriglyceridemic pancreatitis, we undertook DNA mutation analysis of the lipoprotein lipase (LPL), apolipoprotein C2 (APOC2), apolipoprotein A5 (APOA5), lipase maturation factor 1 (LMF1), and glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1) genes in five unrelated pregnant Chinese women with severe hypertriglyceridemia and pancreatitis.
|
26079787 |
2015 |
|
Hypertriglyceridemia
|
0.600 |
Biomarker
|
phenotype |
BEFREE |
The LPL gene was resequenced in 149 patients with severe HTG (TG > 10 mmol/L) and 106 patients with moderate HTG (TG > 4.5 and <10 mmol/L) referred to tertiary Lipid Clinics in Italy.
|
25966443 |
2015 |
|
Hypertriglyceridemia
|
0.600 |
GeneticVariation
|
phenotype |
BEFREE |
Our findings suggest a protective effect of lipoprotein lipase polymorphisms against hypertriglyceridemia in children after 1 year of HAART.
|
24988117 |
2015 |
|
Hypertriglyceridemia
|
0.600 |
GeneticVariation
|
phenotype |
BEFREE |
We conclude that heterozygosity for damaging mutations of LPL may be sufficient to produce severe hypertriglyceridemia and that chylomicronemia may be transmitted in a dominant manner, at least in some families.
|
25585702 |
2015 |
|
Hypertriglyceridemia
|
0.600 |
AlteredExpression
|
phenotype |
BEFREE |
In children and adults a genetic cause may underlie HTG which can be expressed as CMs a severe clinical picture known as Familial Hyperchylomicronemia due to lipoprotein lipase (LPL) or apolipoprotein (apo) CII deficiencies.
|
25936310 |
2015 |
|
Hypertriglyceridemia
|
0.600 |
GeneticVariation
|
phenotype |
BEFREE |
We describe a novel mutation of the LPL gene causing severe hypertriglyceridemia and report the response to treatment.
|
26337181 |
2015 |