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Mesenchymal–epithelial interactions involving epiregulin in tuberous sclerosis complex hamartomas

21 Feb 2008

Abstract excerpt

Patients with tuberous sclerosis complex (TSC) develop hamartomas containing biallelic inactivating mutations in either TSC1 or TSC2, resulting in mammalian target of rapamycin (mTOR) activation. Hamartomas overgrow epithelial and mesenchymal cells in TSC skin. The pathogenetic mechanisms for these changes had not been investigated, and the existence or location of cells with biallelic mutations ("two-hit" cells)...

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PMID: 18292222
DOI: 10.1073/pnas.0712397105

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