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Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2

Germline mutations in the BHD/FLCN tumor suppressor gene predispose patients to develop renal tumors in the hamartoma syndrome, Birt-Hogg-Dubé (BHD). BHD encodes folliculin, a protein with unknown function that may interact with the energy- and nutrient-sensing AMPK-mTOR signaling pathways. To clari...

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Main Authors: Hasumi, Yukiko, Baba, Masaya, Ajima, Rieko, Hasumi, Hisashi, Valera, Vladimir A., Klein, Mara E., Haines, Diana C., Merino, Maria J., Hong, Seung-Beom, Yamaguchi, Terry P., Schmidt, Laura S., Linehan, W. Marston
Formáid: Artigo
Teanga:Inglês
Foilsithe: National Academy of Sciences 2009
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Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2765925/
https://ncbi.nlm.nih.gov/pubmed/19850877
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0908853106
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