Condition: Familial Partial Lipodystrophy, Type 3
rs121909244 in
PPARG gene and
Familial Partial Lipodystrophy, Type 3
PMID 10622252 2000 Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension.
PMID 25157153 2014 Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes.
PMID 15254591 2004 Hypertension and abnormal fat distribution but not insulin resistance in mice with P465L PPARgamma.
PMID 22461176 2012 Peroxisome proliferator-activated receptor-γ protects against vascular aging.
PMID 12453919 2002 PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy.
PMID 11788685 2002 A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy.