Familial partial lipodystrophy
|
0.600 |
Biomarker
|
disease |
BEFREE |
Efficacy of Metreleptin Treatment in Familial Partial Lipodystrophy Due to PPARG vs LMNA Pathogenic Variants.
|
31194872 |
2019 |
Familial partial lipodystrophy
|
0.600 |
Biomarker
|
disease |
BEFREE |
We studied peroxisome proliferator-activated receptor-gamma (PPARgamma) gene as a candidate gene in seven FPL patients who did not appear to have Dunnigan variety.
|
11788685 |
2002 |
Familial partial lipodystrophy
|
0.600 |
Biomarker
|
disease |
MGD |
|
|
|
Familial partial lipodystrophy
|
0.600 |
Biomarker
|
disease |
BEFREE |
We have identified various pathogenic variants scattered throughout the LMNA and PPARG genes in Turkish patients with FPLD.
|
28641778 |
2017 |
Familial partial lipodystrophy
|
0.600 |
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
|
0.600 |
GeneticVariation
|
disease |
LHGDN |
In two patients with familial partial lipodystrophy, we identified a nucleotide substitution in the PPARG gene.
|
17766367 |
2007 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Familial partial lipodystrophy is a rare but characteristic phenotype associated with carriers of peroxisome proliferator-activated receptor-gamma missense mutations.
|
18388689 |
2008 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In three of these patients the clinical diagnosis of FPLD was confirmed by the presence of mutations in LMNA or PPARG; one patient harboured a novel heterozygous mutation (Y151C) in PPARG.
|
21479595 |
2011 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Familial partial lipodystrophy phenotype resulting from a single-base mutation in deoxyribonucleic acid-binding domain of peroxisome proliferator-activated receptor-gamma.
|
17299075 |
2007 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Familial partial lipodystrophy (FPLD) results from coding sequence mutations either in LMNA, encoding nuclear lamin A/C, or in PPARG, encoding peroxisome proliferator-activated receptor gamma (PPARgamma).
|
15531525 |
2004 |
Familial partial lipodystrophy
|
0.600 |
Biomarker
|
disease |
BEFREE |
The associated mutant gene products include 1) nuclear lamin A in FPLD type 2 and MAD type A; 2) nuclear lamin B2 in APL; 3) nuclear hormone receptor peroxisome proliferator-activated receptor gamma in FPLD type 3; 4) lipid biosynthetic enzyme 1-acylglycerol-3-phosphate O-acyltransferase 2 in CGL type 1; 5) integral endoplasmic reticulum membrane protein seipin in CGL type 2; and 6) metalloproteinase ZMPSTE24 in MAD type B.
|
17374881 |
2007 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy.
|
12453919 |
2002 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Inactivating peroxisome proliferator-activated receptor-γ (PPARγ) mutations lead to a syndrome of familial partial lipodystrophy (FPLD3) associated with early-onset severe hypertension.
|
23393388 |
2013 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
One example is familial partial lipodystrophy (FPLD), a rare monogenic form of insulin resistance caused by mutations in either LMNA, encoding nuclear lamin A/C (subtype FPLD2), or in PPARG, encoding peroxisomal proliferator-activated receptor-gamma (subtype FPLD3).
|
15890790 |
2005 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PPARG are associated with insulin resistance and familial partial lipodystrophy, a disease characterized by altered distribution of sc fat and symptoms of the metabolic syndrome.
|
17356052 |
2007 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A heterozygous mutation in the PPARG gene, which changes an arginine residue at position 425 into a cysteine (R425C), has been reported in a patient with familial partial lipodystrophy subtype 3 (FPLD3).
|
17312272 |
2007 |
Familial partial lipodystrophy
|
0.600 |
Biomarker
|
disease |
CTD_human |
Sequencing of candidate genes LMNA, PPARG, AKT2, caveolin-1, as well as the PPARG4 promoter gene, which are known to be associated with familial partial lipodystrophy, revealed no genetic abnormalities, suggesting that this case may involve a novel gene.
|
19793595 |
2009 |