Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome

Kabuki Syndrome (KS) is a rare disorder characterized by distinctive facial features, short stature, skeletal abnormalities, and neurodevelopmental deficits. Previously, we showed that loss of function of RAP1A, a RAF1 regulator, can activate the RAS/MAPK pathway and cause KS, an observation recapit...

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Detalles Bibliográficos
Autores principales: Tsai, I-Chun, McKnight, Kelly, McKinstry, Spencer U., Maynard, Andrew T., Tan, Perciliz L., Golzio, Christelle, White, C. Thomas, Price, Daniel J., Davis, Erica E., Amrine-Madsen, Heather, Katsanis, Nicholas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6050262/
https://www.ncbi.nlm.nih.gov/pubmed/30018450
http://dx.doi.org/10.1038/s41598-018-28709-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6050262/
https://www.ncbi.nlm.nih.gov/pubmed/30018450
http://dx.doi.org/10.1038/s41598-018-28709-y

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