Increased osteoclastogenesis contributes to bone loss in the Costello syndrome Hras G12V mouse model.

ABSTRACT: RAS GTPases are ubiquitous GDP/GTP-binding proteins that function as molecular switches in cellular signalling and control numerous signalling pathways and biological processes. Pathogenic mutations in RAS genes severely affect cellular homeostasis, leading to cancer when occurring in somatic cells and developmental disorders when the germline is affected. These disorders are generally termed as RASopathies and among them Costello syndrome (CS) is a distinctive entity that is caused by specific HRAS germline mutations. The majority of these mutations affect residues 12 and 13, the same sites as somatic oncogenic HRAS mutations. The hallmarks of the disease include congenital cardiac anomalies, impaired thriving and growth, neurocognitive impairments, distinctive cranio

SUBMITTER: Nandi S 

PROVIDER: S-EPMC9624175 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature