A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway

A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway

Cardiofaciocutaneous (CFC) syndrome is a genetic disorder characterized by distinctive facial features, congenital heart defects, and skin abnormalities. Several germline gain-of-function mutations in the RAS/RAF/MEK/ERK pathway are associated with the disease, including KRAS, BRAF, MEK1, and MEK2....

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Bibliographic Details
Main Authors: Ivan K. Popov, Susan M. Hiatt, Sandra Whalen, Boris Keren, Claudia Ruivenkamp, Arie van Haeringen, Mei-Jan Chen, Gregory M. Cooper, Bruce R. Korf, Chenbei Chang
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-04-01
Series:Frontiers in Physiology
Subjects:
YWHAZ
CFC
RASopathy
Raf
Erk activation
Xenopus
Online Access:https://www.frontiersin.org/article/10.3389/fphys.2019.00388/full

Internet

https://www.frontiersin.org/article/10.3389/fphys.2019.00388/full

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