|
Lipodystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Gene-gene and gene-environment interactions in lipodystrophy: Lessons learned from natural PPARγ mutants.
|
30742913 |
2019 |
|
Lipodystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Systemic PPARγ deletion in mice provokes lipoatrophy, organomegaly, severe type 2 diabetes and metabolic inflexibility.
|
30878493 |
2019 |
|
Lipodystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
With a focus on therapeutics, studies delineating the differential responsiveness of PPARγ mutants to endogenous and synthetic ligands has illustrated the potential for pharmacogenetics to inform therapeutic decisions in lipodystrophy related to PPARG mutations, whereas robust human studies have provided insight into the food independent metabolic effects of leptin in lipodystrophy.
|
31135595 |
2019 |
|
Lipodystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Adipocyte deletion of two PPARγ copies induced lipodystrophy, severe glucose intolerance and markedly increased serum BCAA.
|
30316815 |
2018 |
|
Lipodystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
For this purpose, we performed a microarray analysis on kidneys of 3-wk-old peroxisome proliferator-activated receptor-γ (PPARγ)-null and AZIP/F1 mice, which are two models of diabetic nephropathy due to lipodystrophy.
|
29488390 |
2018 |
|
Lipodystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
For example, mutations in PPARG cause Mendelian lipodystrophy and increase risk of type 2 diabetes (T2D).
|
27749844 |
2016 |
|
Lipodystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In rare families, loss-of-function (LOF) mutations in PPARG are known to cosegregate with lipodystrophy and insulin resistance; in the general population, the common P12A variant is associated with a decreased risk of type 2 diabetes (T2D).
|
25157153 |
2014 |
|
Lipodystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Peroxisome proliferator-activated receptor-γ mutations responsible for lipodystrophy with severe hypertension activate the cellular renin-angiotensin system.
|
23393388 |
2013 |
|
Lipodystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The features of PPARG mutations are discussed, with literature on lipodystrophy and pancreatitis in pregnancy reviewed.
|
22803842 |
2012 |
|
Lipodystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We conducted an open-label prospective study of patients with acquired forms of lipodystrophy and inherited forms of lipodystrophy secondary to mutations in the AGPAT2, SEIPIN (also known as BSCL2), LMNA and PPARgamma (also known as PPARG) genes.
|
19727665 |
2010 |
|
Lipodystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The dominant-negative P467L mutation in peroxisome proliferator activated receptor-γ (PPARγ) was identified in insulin-resistant patients with hyperglycemia and lipodystrophy.
|
20724579 |
2010 |
|
Lipodystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
PPARgamma Pro12Ala genotype distribution and allele frequencies were non-significantly different between both HIV-1-infected categories, lipodystrophy vs non-lipodystrophy (p=0.9 and p=0.87, respectively).
|
19534662 |
2009 |
|
Lipodystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A 36-year-old female with PL associated with a heterozygous PPARG mutation complicated by poorly controlled diabetes and severe, refractory hypertriglyceridaemia was enrolled in a National Institutes of Health (NIH) protocol to evaluate the role of r-metHuLeptin in lipodystrophy.
|
18076675 |
2008 |
|
Lipodystrophy
|
0.400 |
Biomarker
|
disease |
MGD |
A mouse model of conditional lipodystrophy.
|
17921248 |
2007 |
|
Lipodystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Several loss-of-function mutations in PPARgamma have been identified that cause lipodystrophy and diabetes in humans.
|
17227883 |
2007 |
|
Lipodystrophy
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Peroxisome proliferator-activated receptor-gamma C190S mutation causes partial lipodystrophy.
|
17356052 |
2007 |
|
Lipodystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
PPARG was screened for mutations by direct sequencing in two patients with lipodystrophy, one unaffected family member and 124 controls.
|
17766367 |
2007 |
|
Lipodystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The loss of body fat in inherited lipodystrophies can be caused by defects in the development and/or differentiation of adipose tissue as a consequence of mutations in a number of genes, including PPARG (encoding a nuclear hormone receptor), AGPAT2 (encoding an enzyme involved in the biosynthesis of triglyceride and phospholipids), AKT2 (encoding a protein involved in insulin signal transduction), and BSCL2 (encoding seipin, whose role in the adipocyte biology remains unclear).
|
16722806 |
2006 |
|
Lipodystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Some FPLDs are linked to loss-of-function mutations in the PPAR-gamma gene (peroxisome-proliferator-activated receptor gamma; FPLD3) with severe metabolic alterations but a less severe lipodystrophy compared with FPLD2.
|
16246048 |
2005 |
|
Lipodystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Other reported FPLD3 patients with mutant PPARgamma were ascertained either directly based on a clinical diagnosis of lipodystrophy (R425C mutation), or based on insulin resistance with subsequent demonstration of lipodystrophy (V290M and P467L mutations).
|
15711581 |
2005 |
|
Lipodystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
However, a new mouse model that expresses the analog of a human PPARG mutation displays minimal lipodystrophy and insulin resistance but rather severe hypertension.
|
15254581 |
2004 |
|
Lipodystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
There is emerging evidence that some rare mutations in peroxisome proliferator-activated receptor-gamma (PPAR-gamma), encoded by PPARG, might be associated with human lipodystrophy.
|
12453919 |
2002 |
|
Lipodystrophy
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|