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Article

Activating PIK3CA mutation promotes adipogenesis of adipose-derived stem cells in macrodactyly via up-regulation of E2F1.

Cell death & disease - 30 Jul 2020

Sun Bin, Jiang Yongkang, Cui Hengqing, Fang Xia, Han Gang, Dai Xinyi, Zhou Shengbo, Mao Hailei, Wang Bin

Abstract excerpt

Macrodactyly is a congenital malformation characterized by enlargement of bone and soft tissues in limbs, typically with excessive accumulation of adipose tissues. Although gain-of-function mutation of PIK3CA has been identified in macrodactyly, the mechanism of PIK3CA mutation in adipose accumulation is poorly understood. In this study, we found that adipocytes from macrodactyly were more hypertrophic than those...

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Identifiers

PMID: 32732866
DOI: 10.1038/s41419-020-02806-1
PMCID: PMC7393369

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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