|
Obesity
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genetic polymorphisms at the perilipin (PLIN) locus have been investigated for their potential utility as markers for obesity and metabolic syndrome (MS).
|
18812483 |
2008 |
|
Obesity
|
0.400 |
Biomarker
|
disease |
BEFREE |
These findings support an important role for PLIN as a candidate gene for obesity risk in humans as well as a modulator of dietary response to therapies aimed to reduce body weight and decrease metabolic syndrome risk.
|
17353663 |
2007 |
|
Obesity
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Intragenic linkage disequilibrium structure of the human perilipin gene (PLIN) and haplotype association with increased obesity risk in a multiethnic Asian population.
|
15770500 |
2005 |
|
Obesity
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The objective of the study was to examine the association of several polymorphisms at the perilipin (PLIN) locus with obesity and weight reduction in response to a low-energy diet in obese patients.
|
15985482 |
2005 |
|
Obesity
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our data support the hypothesis that the PLIN locus may be a significant genetic determinant for obesity risk in whites and that women are more sensitive to the genetic effects of perilipin than men.
|
15601970 |
2004 |
|
Obesity
|
0.400 |
Biomarker
|
disease |
CTD_human |
Thus, perilipin was elevated in obese subjects, perhaps as a compensatory mechanism to limit basal lipolysis.
|
15001633 |
2004 |
|
Obesity
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Only in women, PLIN1 and PLIN4 variant alleles (6209C and 11482A) were associated with a lower obesity risk [Odds ratio (OR) = 0.58, 95% confidence interval (CI): 0.38-0.93 and OR = 0.56, 95% CI: 0.36-0.89, respectively].
|
15355432 |
2004 |
|
Obesity
|
0.400 |
Biomarker
|
disease |
BEFREE |
Thus, perilipin was elevated in obese subjects, perhaps as a compensatory mechanism to limit basal lipolysis.
|
15001633 |
2004 |
|
Obesity
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Depot-specific differences in perilipin mRNA but not protein expression in obesity.
|
15078502 |
2004 |
|
Obesity
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Polymorphisms in PLIN and hypertension combined with obesity and lipid profiles in Han Chinese.
|
15601966 |
2004 |
|
Obesity
|
0.400 |
Biomarker
|
disease |
BEFREE |
Perilipin protein content and lipolysis rates were measured in human subcutaneous fat cells of non-obese (n=10) and obese (n=117) women.
|
12802495 |
2003 |
|
Familial partial lipodystrophy
|
0.370 |
Biomarker
|
disease |
BEFREE |
Diagnostic Challenge in PLIN1-Associated Familial Partial Lipodystrophy.
|
31504636 |
2019 |
|
Familial partial lipodystrophy
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
Herein, we present a rare case of proteinuria associated with type 4 FPLD, which is characterized by a heterozygous mutation in PLIN1 and has not been reported with renal involvement until now.
|
29747582 |
2018 |
|
Familial partial lipodystrophy
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
Our study suggests that heterozygous variants that are predicted to result in PLIN1 haploinsufficiency are not a cause of familial partial lipodystrophy and should not be reported as disease-causing variants by diagnostic genetic testing laboratories.
|
30020498 |
2018 |
|
Familial partial lipodystrophy
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations in the PLIN1 gene were recently reported in patients with a novel subtype of familial partial lipodystrophy, designated as FPLD4.
|
25114292 |
2015 |
|
Familial partial lipodystrophy
|
0.370 |
Biomarker
|
disease |
BEFREE |
In the acquired forms, genes such as LMNA, PPARG, CIDEC (cell-death-inducing DNA fragmentation factor a-like effector c) and PLIN1 are heavily involved in familial partial lipodystrophy (FPLD) type 2 (also known as the Dunnigan-Variety) and WRN along with RECQL5 in Werner Syndrome (WS).
|
24152769 |
2014 |
|
Familial partial lipodystrophy
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
We recently identified the first human loss-of-function mutations in PLIN1 in patients with a novel form of familial partial lipodystrophy, severe insulin resistance, diabetes, dyslipidaemia and fatty liver.
|
23392103 |
2013 |
|
Familial partial lipodystrophy
|
0.370 |
Biomarker
|
disease |
BEFREE |
Mutations in AGPAT2, BSCL2, CAV1, and PTRF have been reported in congenital generalized lipodystrophy and in LMNA, PPARG, AKT2, and PLIN1 in FPL.
|
21865368 |
2011 |
|
Familial partial lipodystrophy
|
0.370 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Familial Partial Lipodystrophy, Type 1
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Familial Partial Lipodystrophy, Type 2
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Familial Partial Lipodystrophy, Type 3
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Lipodystrophy
|
0.140 |
Biomarker
|
disease |
BEFREE |
Recent reports of PLIN1 heterozygous null variant carriers and the apparent absence of a lipodystrophy phenotype challenges our understanding of the molecular biology of perilipin 1 and its role in the pathogenesis of FPLD4.
|
31135595 |
2019 |
|
Lipodystrophy
|
0.140 |
GeneticVariation
|
disease |
BEFREE |
We performed histological and molecular studies for patients referred to our French National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity for lipodystrophy and/or insulin resistance and carrying PLIN1 frameshift variants.
|
31504636 |
2019 |
|
Lipodystrophy
|
0.140 |
Biomarker
|
disease |
BEFREE |
Additionally, 14/17,000 (1 in 1214) individuals with PLIN1 null variants in the type 2 diabetes knowledge portal showed no association with biomarkers of lipodystrophy.
|
30020498 |
2018 |