Ontology highlight
ABSTRACT:
SUBMITTER: Bera AK
PROVIDER: S-EPMC7495839 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
Bera Asim K AK Lu Jia J Lu Chunya C Li Lianbo L Gondi Sudershan S Yan Wei W Nelson Andrew A Zhang Goujun G Westover Kenneth D KD
Birth defects research 20200318 10
RAS proteins are commonly mutated in cancerous tumors, but germline RAS mutations are also found in RASopathy syndromes such as Noonan syndrome (NS) and cardiofaciocutaneous (CFC) syndrome. Activating RAS mutations can be subclassified based on their activating mechanisms. Understanding the structural basis for these mechanisms may provide clues for how to manage associated health conditions. We determined high-resolution X-ray structures of the RASopathy mutant KRAS<sup>P34R</sup> seen in NS an ...[more]