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Loss of Fnip1 alters kidney developmental transcriptional program and synergizes with TSC1 loss to promote mTORC1 activation and renal cyst formation
Birt-Hogg-Dube’ Syndrome (BHDS) is a rare genetic disorder in humans characterized by skin hamartomas, lung cysts, pneumothorax, and increased risk of renal tumors. BHDS is caused by mutations in the BHD gene, which encodes for Folliculin, a cytoplasmic adapter protein that binds to Folliculin inter...
Autores principales: | Centini, Ryan, Tsang, Mark, Iwata, Terri, Park, Heon, Delrow, Jeffrey, Margineantu, Daciana, Iritani, Brandon M., Gu, Haiwei, Liggitt, H. Denny, Kang, Janella, Kang, Lim, Hockenbery, David M., Raftery, Daniel, Iritani, Brian M. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5999084/ https://www.ncbi.nlm.nih.gov/pubmed/29897930 http://dx.doi.org/10.1371/journal.pone.0197973 |
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