Associated Papers
Search for the most precise diagnosis of monogenic diabetes - the usefulness of short-read NGS method in molecular testing in Polish patients.
Płoszaj T et al.
Acta Diabetologica, 2026
Familial partial lipodystrophy resulting from loss-of-function PPARγ pathogenic variants: phenotypic, clinical, and genetic features.
Soares RMV et al.
Frontiers in Endocrinology, 2024
Perinatal, metabolic, and reproductive features in PPARG-related lipodystrophy.
Gosseaume C et al.
European Journal of Endocrinology, 2023
MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience.
Marucci A et al.
Acta Diabetologica, 2023
PPARγ lipodystrophy mutants reveal intermolecular interactions required for enhancer activation.
Madsen MS et al.
Nature Communications, 2022
Genetics and Clinical Characteristics of PPARγ Variant-Induced Diabetes in a Chinese Han Population.
Gong S et al.
Frontiers in Endocrinology, 2021
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
Natural helix 9 mutants of PPARγ differently affect its transcriptional activity.
Broekema MF et al.
Molecular Metabolism, 2019
Investigation of the Lith6 candidate genes APOBEC1 and PPARG in human gallstone disease.
Schafmayer C et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2007
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