Associated Papers
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
Computational refinement identifies functional destructive single nucleotide polymorphisms associated with human retinoid X receptor gene.
Sarkar S et al.
Journal of Biomolecular Structure & Dynamics, 2023
PPARγ lipodystrophy mutants reveal intermolecular interactions required for enhancer activation.
Madsen MS et al.
Nature Communications, 2022
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