|
Colitis
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia.
|
24614124 |
2014 |
|
Hyperlipoproteinemias
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
One patient with severe type 5 hyperlipoproteinemia (MIM 144650), fasting chylomicronemia and relapsing pancreatitis resistant to standard therapy was found to be homozygous for a novel GPIHBP1 missense variant, namely G56R.
|
17883852 |
2007 |
|
Hypertriglyceridemia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
In kindred 2, three preschool children had severe hypertriglyceridemia and were homozygous for a GPIHBP1 p.T108R missense mutation.
|
30352774 |
2020 |
|
Hypertriglyceridemia
|
0.100 |
AlteredExpression
|
phenotype |
BEFREE |
The reduced expression of GPIHBP1 was insufficient to prevent LPL from reaching the capillary lumen, and it did not lead to hypertriglyceridemia-even when mice were fed a high-fat diet.
|
30598475 |
2019 |
|
Hypertriglyceridemia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Altogether, these findings highlighted a novel role of GPIHBP1 that might be responsible for hypertriglyceridemia in Apc<sup>Min/+</sup> mice.
|
31002917 |
2019 |
|
Hypertriglyceridemia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Previous studies have demonstrated that mutations in lipoprotein lipase (LPL), apolipoprotein CII (APOC2), apolipoprotein AV (APOA5), glycosylphosphatidylinositol anchored high-density lipoprotein-binding protein 1 (GPIHBP1), lipase maturation factor 1(LMF1), and glycerol-3 phosphate dehydrogenase 1 (GPD1) are responsible for HTG by using genomic microarrays and next-generation sequencing.
|
29910226 |
2019 |
|
Hypertriglyceridemia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
These findings were probably associated with HTG caused by Gpihbp1 deficiency and with increased oxidative stress and inflammation in the atherosclerotic lesions.
|
30721842 |
2019 |
|
Hypertriglyceridemia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Loss-of-function mutations in <i>LPL</i> or <i>GPIHBP1</i> cause severe hypertriglyceridemia (chylomicronemia), but structures for LPL and GPIHBP1 have remained elusive.
|
30559189 |
2019 |
|
Hyperlipoproteinemia Type I
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in GPIHBP1 causes familial chylomicronemia syndrome.
|
29452893 |
2019 |
|
Hypertriglyceridemia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Variants in the lipoprotein lipase (LPL), apolipoprotein C-II (APOC2), apolipoprotein A-V (APOA5), GPIHBP1 and LMF1 genes may cause severe hypertriglyceridemia (HTG), which is now the second-leading aetiology of acute pancreatitis in China.
|
29921298 |
2018 |
|
Hypertriglyceridemia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Autoantibodies against GPIHBP1, the endothelial cell transporter for lipoprotein lipase (LPL), cause severe hypertriglyceridemia ("GPIHBP1 autoantibody syndrome").
|
30287259 |
2018 |
|
Hypertriglyceridemia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
A recent study showed that some cases of hypertriglyceridemia are caused by autoantibodies against GPIHBP1 ("GPIHBP1 autoantibody syndrome").
|
28666713 |
2018 |
|
Hypertriglyceridemia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
We sequenced promoters, exons, and exon-intron boundaries of LPL, APOA5, LMF1, and GPIHBP1 in 118 patients with severe primary HTG (triglycerides >500 mg/dL) and 53 normolipidemic controls.
|
27578109 |
2017 |
|
Hypertriglyceridemia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Patients with GPIHBP1 deficiency have low plasma levels of lipoprotein lipase, impaired intravascular hydrolysis of triglycerides, and severe hypertriglyceridemia (chylomicronemia).
|
28402248 |
2017 |
|
Hyperlipoproteinemia Type I
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene.
|
27578123 |
2017 |
|
Hypertriglyceridemia
|
0.100 |
GeneticVariation
|
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
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
To confirm the results in Tg-ApoCIII mice, Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1(GPIHBP1) knockout mice, another severe HTG mouse model, were used and yielded similar results.
|
26970521 |
2016 |
|
Hypertriglyceridemia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
In conclusion, we have identified 2 novel GPIHBP1 missense mutations in 2 unrelated patients as the cause of their severe hypertriglyceridemia.
|
26892125 |
2016 |
|
Hyperlipoproteinemia Type I
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recently, loss-of-function mutations of GPIHBP1 have been reported as the cause of type I hyperlipoproteinemia in several patients.
|
26892125 |
2016 |
|
Hypertriglyceridemia
|
0.100 |
Biomarker
|
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 |
|
Hyperlipoproteinemia Type I
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Familial chylomicronemia syndrome and response to medium-chain triglyceride therapy in an infant with novel mutations in GPIHBP1.
|
25499947 |
2015 |
|
Hyperlipoproteinemia Type I
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
GPIHBP1 missense mutations that interfere with LPL binding cause familial chylomicronemia.
|
25387803 |
2015 |
|
Hypertriglyceridemia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Our study broadens the phenotype of GPIHBP1-associated HTG, reinforces the effectiveness of whole-exome sequencing in Mendelian diagnoses, and implicates triglycerides in gastrointestinal mucosal injury.
|
24614124 |
2014 |
|
Hypertriglyceridemia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Here, we report a patient with severe hypertriglyceridemia who was homozygous for a GPIHBP1 point mutation that converted a serine in the GPIHBP1 Ly6 domain (Ser-107) to a cysteine.
|
24847059 |
2014 |
|
Hypertriglyceridemia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Two patients with other five family members were included in this study for DNA-sequences of hyperlipidemia-related genes (such as LPL, APOC2, APOA5, LMF1, and GPIHBP1) and 43 healthy individuals and 70 HTG subjects were included for the screening of LPL gene mutations.
|
24646025 |
2014 |