Genomics

Dataset Information

0

Homo sapiens


ABSTRACT: Transcript Profiling of TSC Tumor Fibroblasts in Human Patients

ORGANISM(S): Homo sapiens  

PROVIDER: PRJNA103619 | ENA |

REPOSITORIES: ENA

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Publications

Mesenchymal-epithelial interactions involving epiregulin in tuberous sclerosis complex hamartomas.

Li Shaowei S   Takeuchi Fumiko F   Wang Ji-An JA   Fan Qingyuan Q   Komurasaki Toshi T   Billings Eric M EM   Pacheco-Rodriguez Gustavo G   Moss Joel J   Darling Thomas N TN  

Proceedings of the National Academy of Sciences of the United States of America 20080221 9


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) was unclear. We compared TSC skin hamartomas (angiofibromas and periungual fibromas  ...[more]

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