×
Entrez Id:
5468
Gene Symbol:
PPARG
PPARG
0.980
AlteredExpression
disease
BEFREE
We will present several gene-gene and gene-environment factors and mechanisms that are critical for adequate PPARγ expression and activity in AT and discuss how these interactions potentially contribute to the observed spectrum of FPLD3 phenotypes.
30742913
2019
×
Entrez Id:
5468
Gene Symbol:
PPARG
PPARG
0.980
GeneticVariation
disease
BEFREE
Patient 1 suffered for 18 years from devastating complications of undiagnosed type 3 familial partial lipodystrophy due to a deleterious heterozygous variant in PPARG .
31000363
2019
×
Entrez Id:
5468
Gene Symbol:
PPARG
PPARG
0.980
GeneticVariation
disease
BEFREE
Selected sequence variants in the PNR LBD associated with human retinopathies, or a mutation in the dimerization region of PPARγ LBD associated with familial partial lipodystrophy type 3 , were found to disrupt PNR/PPARγ complex formation.
28300834
2017
×
Entrez Id:
5468
Gene Symbol:
PPARG
PPARG
0.980
Biomarker
disease
BEFREE
Moreover, PPARgamma haplo-insufficiency also exists in human known as a rare disease (FPLD3 ) causing metabolic adverse effects, similar to the mouse.
29163553
2017
×
Entrez Id:
5468
Gene Symbol:
PPARG
PPARG
0.980
GeneticVariation
disease
BEFREE
A novel PPARG mutation leading to FPLD3 is described.
26119484
2016
×
Entrez Id:
5468
Gene Symbol:
PPARG
PPARG
0.980
GeneticVariation
disease
CLINVAR
Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes.
25157153
2014
×
Entrez Id:
5468
Gene Symbol:
PPARG
PPARG
0.980
AlteredExpression
disease
BEFREE
We evaluated the relationships between PPARγ inactivation and cellular RAS using FPLD3 patients' cells and human vascular smooth muscle cells expressing mutant or wild-type PPARγ.
23393388
2013
×
Entrez Id:
5468
Gene Symbol:
PPARG
PPARG
0.980
GeneticVariation
disease
CLINVAR
Peroxisome proliferator-activated receptor-γ protects against vascular aging.
22461176
2012
×
Entrez Id:
5468
Gene Symbol:
PPARG
PPARG
0.980
Biomarker
disease
BEFREE
Vascular placental abnormalities and newborn death in a pregnant diabetic woman with familial partial lipodystrophy type 3 : a possible role for peroxisome proliferator-activated receptor γ .
22559930
2012
×
Entrez Id:
5468
Gene Symbol:
PPARG
PPARG
0.980
Biomarker
disease
CTD_human
Clinical characteristics and efficacy of pioglitazone in a Japanese diabetic patient with an unusual type of familial partial lipodystrophy.
19793595
2009
×
Entrez Id:
5468
Gene Symbol:
PPARG
PPARG
0.980
GeneticVariation
disease
BEFREE
Taken together with previous studies of human PPARG mutations, these findings suggest that PPAR-gamma deficiency due either to haploinsufficiency or to substantial activity loss due to dominant negative interference of the normal allele product's function can each contribute to the FPLD3 phenotype.
16412238
2006
×
Entrez Id:
5468
Gene Symbol:
PPARG
PPARG
0.980
GeneticVariation
disease
CLINVAR
Hypertension and abnormal fat distribution but not insulin resistance in mice with P465L PPARgamma.
15254591
2004
×
Entrez Id:
5468
Gene Symbol:
PPARG
PPARG
0.980
GeneticVariation
disease
UNIPROT
A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy.
11788685
2002
×
Entrez Id:
5468
Gene Symbol:
PPARG
PPARG
0.980
GermlineCausalMutation
disease
ORPHANET
A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy.
11788685
2002
×
Entrez Id:
5468
Gene Symbol:
PPARG
PPARG
0.980
GeneticVariation
disease
UNIPROT
PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy.
12453919
2002
×
Entrez Id:
5468
Gene Symbol:
PPARG
PPARG
0.980
GermlineCausalMutation
disease
ORPHANET
PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy.
12453919
2002
×
Entrez Id:
5468
Gene Symbol:
PPARG
PPARG
0.980
GeneticVariation
disease
CLINVAR
Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension.
10622252
2000
×
Entrez Id:
5468
Gene Symbol:
PPARG
PPARG
0.980
CausalMutation
disease
CLINVAR
×
Entrez Id:
5468
Gene Symbol:
PPARG
PPARG
0.980
Biomarker
disease
MGD
×
Entrez Id:
5468
Gene Symbol:
PPARG
PPARG
0.980
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
857
Gene Symbol:
CAV1
CAV1
0.300
Biomarker
disease
CTD_human
Clinical characteristics and efficacy of pioglitazone in a Japanese diabetic patient with an unusual type of familial partial lipodystrophy.
19793595
2009
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.300
Biomarker
disease
CTD_human
Clinical characteristics and efficacy of pioglitazone in a Japanese diabetic patient with an unusual type of familial partial lipodystrophy.
19793595
2009
×
Entrez Id:
208
Gene Symbol:
AKT2
AKT2
0.300
Biomarker
disease
CTD_human
Clinical characteristics and efficacy of pioglitazone in a Japanese diabetic patient with an unusual type of familial partial lipodystrophy.
19793595
2009
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.300
Biomarker
disease
CTD_human
Long-term treatment experience in a subject with Dunnigan-type familial partial lipodystrophy: efficacy of rosiglitazone.
16241930
2005
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.300
Biomarker
disease
CTD_human
Response to treatment with rosiglitazone in familial partial lipodystrophy due to a mutation in the LMNA gene.
14510863
2003