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Article

NODAL/TGFβ signalling mediates the self-sustained stemness induced by PIK3CAH1047R homozygosity in pluripotent stem cells.

Disease models & mechanisms - 1 Mar 2021

Madsen Ralitsa R, Longden James, Knox Rachel G, Robin Xavier, Völlmy Franziska, Macleod Kenneth G, Moniz Larissa S, Carragher Neil O, Linding Rune, Vanhaesebroeck Bart, Semple Robert K

Abstract excerpt

Activating PIK3CA mutations are known 'drivers' of human cancer and developmental overgrowth syndromes. We recently demonstrated that the 'hotspot' PIK3CAH1047R variant exerts unexpected allele dose-dependent effects on stemness in human pluripotent stem cells (hPSCs). In this study, we combine high-depth transcriptomics, total proteomics and reverse-phase protein arrays to reveal potentially disease-related...

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Identifiers

PMID: 33514588
DOI: 10.1242/dmm.048298
PMCID: PMC7969366

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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