Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder

Transcription factor NRF2, encoded by NFE2L2, is the master regulator of defense against stress in mammalian cells. Somatic mutations of NFE2L2 leading to NRF2 accumulation promote cell survival and drug resistance in cancer cells. Here we show that the same mutations as inborn de novo mutations cau...

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Detalles Bibliográficos
Autores principales: Huppke, Peter, Weissbach, Susann, Church, Joseph A., Schnur, Rhonda, Krusen, Martina, Dreha-Kulaczewski, Steffi, Kühn-Velten, W. Nikolaus, Wolf, Annika, Huppke, Brenda, Millan, Francisca, Begtrup, Amber, Almusafri, Fatima, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Müller, Michael, Gärtner, Jutta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5635015/
https://www.ncbi.nlm.nih.gov/pubmed/29018201
http://dx.doi.org/10.1038/s41467-017-00932-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5635015/
https://www.ncbi.nlm.nih.gov/pubmed/29018201
http://dx.doi.org/10.1038/s41467-017-00932-7

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