Prospective functional classification of all possible missense variants in PPARG

AR Majithia, B Tsuda, M Agostini, K Gnanapradeepan… - Nature …, 2016 - nature.com
Clinical exome sequencing routinely identifies missense variants in disease-related genes,
but functional characterization is rarely undertaken, leading to diagnostic uncertainty,. For …

A Pro12Ala substitution in PPARγ2 associated with decreased receptor activity, lower body mass index and improved insulin sensitivity

SS Deeb, L Fajas, M Nemoto, J Pihlajamäki… - Nature …, 1998 - nature.com
The peroxisome proliferator-activated receptor-γ (PPARγ) is a transcription factor that has a
pivotal role in adipocyte differentiation and expression of adipocyte-specific genes 1, 3. The …

The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes

D Altshuler, JN Hirschhorn, M Klannemark… - Nature …, 2000 - nature.com
Genetic association studies are viewed as problematic and plagued by irreproducibility 1.
Many associations have been reported for type 2 diabetes 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13 …

Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes

AR Majithia, J Flannick, P Shahinian… - Proceedings of the …, 2014 - National Acad Sciences
Peroxisome proliferator-activated receptor gamma (PPARG) is a master transcriptional
regulator of adipocyte differentiation and a canonical target of antidiabetic thiazolidinedione …

Obesity associated with a mutation in a genetic regulator of adipocyte differentiation

M Ristow, D Müller-Wieland, A Pfeiffer… - … England Journal of …, 1998 - Mass Medical Soc
Background There is increasing evidence of genetic factors leading to obesity, but the exact
genes involved have not been defined. Peroxisome-proliferator–activated receptor γ2 …

[HTML][HTML] Epigenetic codes of PPARγ in metabolic disease

S Sugii, RM Evans - FEBS letters, 2011 - Elsevier
Peroxisome proliferator-activated receptor gamma (PPARγ), a ligand-regulated nuclear
hormone receptor, plays critical roles in metabolism and adipogenesis. PPARγ ligands such …

Impact of genetic variation of PPARγ in humans

A Meirhaeghe, P Amouyel - Molecular genetics and metabolism, 2004 - Elsevier
Peroxisome proliferator-activated receptor γ (PPARγ) is a transcription factor with a key role
in adipocyte differentiation. Since 1997, studies of rare mutations and common …

[HTML][HTML] Genetic variation determines PPARγ function and anti-diabetic drug response in vivo

RE Soccio, ER Chen, SR Rajapurkar, P Safabakhsh… - Cell, 2015 - cell.com
SNPs affecting disease risk often reside in non-coding genomic regions. Here, we show that
SNPs are highly enriched at mouse strain-selective adipose tissue binding sites for PPARγ …

Isoform-specific functions of PPARγ in gene regulation and metabolism

W Hu, C Jiang, M Kim, Y Xiao, HJ Richter… - Genes & …, 2022 - genesdev.cshlp.org
Peroxisome proliferator-activated receptor γ (PPARγ) is a nuclear receptor that is a vital
regulator of adipogenesis, insulin sensitivity, and lipid metabolism. Activation of PPARγ by …

[HTML][HTML] The organization, promoter analysis, and expression of the human PPARγ gene

L Fajas, D Auboeuf, E Raspé, K Schoonjans… - Journal of Biological …, 1997 - ASBMB
PPARγ is a member of the PPAR subfamily of nuclear receptors. In this work, the structure of
the human PPARγ cDNA and gene was determined, and its promoters and tissue-specific …