Varaico: Literature-Extracted Genetic Variants

Gene:PPARG
Variant:p.L451P
Back to variants list

PPARG

NM_138711.6:p.L451P

Associated Papers

Peroxisome proliferator-activated receptor gamma mutation in familial partial lipodystrophy type three: A case report and review of literature.

Wu CJ et al.

World Journal of Diabetes, 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

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 )
Supplement: DataSheet_2.docx

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

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

Natural helix 9 mutants of PPARγ differently affect its transcriptional activity.

Broekema MF et al.

Molecular Metabolism, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."