Associated Papers
Case report: two novel PPARG pathogenic variants associated with type 3 familial partial lipodystrophy in Brazil.
da Silva MA et al.
Diabetology & Metabolic Syndrome, 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
Unveiling clinically significant PPARγ mutations for thiazolidinedione treatment responsiveness through atomistic simulations.
Shahrear S et al.
International Journal of Biological Macromolecules, 2023
Case Report: A New Peroxisome Proliferator-Activated Receptor Gamma Mutation Causes Familial Partial Lipodystrophy Type 3 in a Chinese Patient.
Chen X et al.
Frontiers in Endocrinology, 2022
Genetics and Clinical Characteristics of PPARγ Variant-Induced Diabetes in a Chinese Han Population.
Gong S et al.
Frontiers in Endocrinology, 2021
34764936 (PubMed )
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Peroxisome proliferator-activated receptor gamma-ligand-binding domain mutations associated with familial partial lipodystrophy type 3 disrupt human trophoblast fusion and fibroblast migration.
Shoaito H et al.
Journal of Cellular and Molecular Medicine, 2020
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
Recurrent activating mutations of PPARγ associated with luminal bladder tumors.
Rochel N et al.
Nature Communications, 2019
Congenital generalized lipodystrophies--new insights into metabolic dysfunction.
Patni N et al.
Nature Reviews. Endocrinology, 2015
Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli-Seip syndrome.
Dyment DA et al.
European Journal of Medical Genetics, 2014
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