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A Novel EBF2 Nonsense Variant Drives Adipose Tissue Fibrosis and Dysfunction in Partial Lipodystrophy Syndrome

GSE288829 Mus musculus Expression profiling by high throughput sequencing 6 samples Submitted 2025/02/17 Platform GPL34290
Summary
Heterozygous Ebf2 p.E165X knock-in (KI) mice exhibited restricted adipogenesis and excess extracellular matrix (ECM) deposition during post-weaning AT expansion and high-fat-diet (HFD)-induced obesity.
Published in
EBF2 variant identified in a patient with atypical partial lipodystrophy causes adipose fibrosis and dysfunction
Foss-Freitas MC, Gilio D, Pais L et al. · The Journal of clinical investigation 2026 · PMID 41615236 · doi:10.1172/JCI192737
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Also filed as BioProject PRJNA1219572 and SRA study SRP561748. Searching any of these in the dataset finder brings you back here.

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