GEO series
A Novel EBF2 Nonsense Variant Drives Adipose Tissue Fibrosis and Dysfunction in Partial Lipodystrophy Syndrome
GSE288824
Homo sapiens
Expression profiling by high throughput sequencing
11 samples
2025/02/17
GPL24676
Summary
In vitro disease modeling of an erly B cell factor 2 (EBF2) nonsense variant (EBF2 8:26033143 C>A, c.493G>T, p.E165X) demonstrates that the EBF2 variant impairs adipogenesis causing excess accumulation of extracelluar matrix protein and inflammatory myeloid cells.
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Paper (PMID 41615236) ↗
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