Associated Papers
Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.
Huerta-Chagoya A et al.
Nature Genetics, 2024
Familial partial lipodystrophy resulting from loss-of-function PPARγ pathogenic variants: phenotypic, clinical, and genetic features.
Soares RMV et al.
Frontiers in Endocrinology, 2024
Biochemical pathways represented by Gene Ontology-Causal Activity Models identify distinct phenotypes resulting from mutations in pathways.
Hill DP et al.
Genetics, 2023
Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.
Schroeder P et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Perinatal, metabolic, and reproductive features in PPARG-related lipodystrophy.
Gosseaume C et al.
European Journal of Endocrinology, 2023
Not Enough Fat: Mouse Models of Inherited Lipodystrophy.
Le Lay S et al.
Frontiers in Endocrinology, 2022
Efficacy of Metreleptin Treatment in Familial Partial Lipodystrophy Due to PPARG vs LMNA Pathogenic Variants.
Sekizkardes H et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
Gene-gene and gene-environment interactions in lipodystrophy: Lessons learned from natural PPARγ mutants.
Broekema MF et al.
Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2019
P465L-PPARγ mutation confers partial resistance to the hypolipidaemic action of fibrates.
Rodriguez-Cuenca S et al.
Diabetes, Obesity & Metabolism, 2018
Endothelial PPARγ (Peroxisome Proliferator-Activated Receptor-γ) Is Essential for Preventing Endothelial Dysfunction With Aging.
De Silva TM et al.
Hypertension (dallas, Tex. : 1979), 2018
Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance.
Lotta LA et al.
Nature Genetics, 2017
Prospective functional classification of all possible missense variants in PPARG.
Majithia AR et al.
Nature Genetics, 2016
Adipose deficiency of Nrf2 in ob/ob mice results in severe metabolic syndrome.
Xue P et al.
Diabetes, 2013
Cullin-3 regulates vascular smooth muscle function and arterial blood pressure via PPARγ and RhoA/Rho-kinase.
Pelham CJ et al.
Cell Metabolism, 2012
Pro- and antiatherogenic effects of a dominant-negative P465L mutation of peroxisome proliferator-activated receptor-γ in apolipoprotein E-Null mice.
Pendse AA et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2012
Peroxisome proliferator-activated receptor-γ protects against vascular aging.
Modrick ML et al.
American Journal of Physiology. Regulatory, Integrative and Comparative Physiology, 2012
Peroxisome proliferator-activated receptor γ-dependent regulation of lipolytic nodes and metabolic flexibility.
Rodriguez-Cuenca S et al.
Molecular and Cellular Biology, 2012
Lipodystrophy: metabolic insights from a rare disorder.
Huang-Doran I et al.
The Journal of Endocrinology, 2010
Pparg-P465L mutation worsens hyperglycemia in Ins2-Akita female mice via adipose-specific insulin resistance and storage dysfunction.
Pendse AA et al.
Diabetes, 2010
A novel germline mutation in peroxisome proliferator-activated receptor gamma gene associated with large intestine polyp formation and dyslipidemia.
Capaccio D et al.
Biochimica Et Biophysica Acta, 2010
Genetic variations in peroxisome proliferator-activated receptor gamma expression affect blood pressure.
Tsai YS et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
Decreased PPAR gamma expression compromises perigonadal-specific fat deposition and insulin sensitivity.
Tsai YS et al.
Molecular Endocrinology (baltimore, Md.), 2009
Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC.
Rubio-Cabezas O et al.
Embo Molecular Medicine, 2009
Defective peroxisomal proliferators activated receptor gamma activity due to dominant-negative mutation synergizes with hypertension to accelerate cardiac fibrosis in mice.
Kis A et al.
European Journal of Heart Failure, 2009
Pro12Ala polymorphism in PPAR gamma 2 associated with essential hypertension in Chinese nonagenarians/centenarians.
Lu Z et al.
Experimental Gerontology, 2008
Endothelium-specific interference with peroxisome proliferator activated receptor gamma causes cerebral vascular dysfunction in response to a high-fat diet.
Beyer AM et al.
Circulation Research, 2008
Leptin therapy for partial lipodystrophy linked to a PPAR-gamma mutation.
Guettier JM et al.
Clinical Endocrinology, 2008
Interference with PPARgamma signaling causes cerebral vascular dysfunction, hypertrophy, and remodeling.
Beyer AM et al.
Hypertension (dallas, Tex. : 1979), 2008
Single gene contributions: genetic variants of peroxisome proliferator-activated receptor (isoforms alpha, beta/delta and gamma) and mechanisms of dyslipidemias.
Yong EL et al.
Current Opinion in Lipidology, 2008
Interference with PPAR gamma function in smooth muscle causes vascular dysfunction and hypertension.
Halabi CM et al.
Cell Metabolism, 2008
Leptin deficiency unmasks the deleterious effects of impaired peroxisome proliferator-activated receptor gamma function (P465L PPARgamma) in mice.
Gray SL et al.
Diabetes, 2006
PPAR gamma and human metabolic disease.
Semple RK et al.
The Journal of Clinical Investigation, 2006
PPARgamma: a critical determinant of body fat distribution in humans and mice.
Tsai YS et al.
Trends in Cardiovascular Medicine, 2005
Hypertension and abnormal fat distribution but not insulin resistance in mice with P465L PPARgamma.
Tsai YS et al.
The Journal of Clinical Investigation, 2004
A dominant negative PPARgamma mutant shows altered cofactor recruitment and inhibits adipogenesis in 3T3-L1 cells.
Park Y et al.
Diabetologia, 2003