Associated Papers
A Novel PPARG R212W Variant Causes Familial Partial Lipodystrophy Type 3: Clinical Presentation and Functional Characterization.
Gao Y et al.
International Journal of Molecular Sciences, 2026
Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil.
Mendes C et al.
Molecular Genetics and Metabolism Reports, 2024
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
PPARγ lipodystrophy mutants reveal intermolecular interactions required for enhancer activation.
Madsen MS et al.
Nature Communications, 2022
Prospective functional classification of all possible missense variants in PPARG.
Majithia AR et al.
Nature Genetics, 2016
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