The RASopathies are a group of disorders caused by a germline mutation in one of the
genes encoding a component of the RAS/MAPK pathway. These disorders, including …

Abstract Noonan syndrome [NS; Mendelian Inheritance in Men (MIM)# 163950] and related
syndromes [Noonan syndrome with multiple lentigines (formerly called LEOPARD …

Cerebral arachnoid cysts (ACs) are one of the most common and poorly understood types of
developmental brain lesion. To begin to elucidate AC pathogenesis, we performed an …

Human oncoproteins promote transformation of cells into tumours by dysregulating the
signalling pathways that are involved in cell growth, proliferation and death. Although …

The RAS signaling pathway is involved in the regulation of developmental processes,
including cell growth, proliferation, and differentiation, in the central nervous system (CNS) …

RASopathies caused by germline pathogenic variants in genes that encode RAS pathway
proteins. These disorders include neurofibromatosis type 1 (NF1), Noonan syndrome (NS) …

The RASopathies comprise an ever-growing number of clinical syndromes resulting from
germline mutations in components of the RAS/MAPK signaling pathway. While multiple …

Mutations affecting mTOR or RAS signaling underlie defined syndromes (the so-called
mTORopathies and RASopathies) with high risk for Autism Spectrum Disorder (ASD). These …

RASopathies are a family of related syndromes caused by mutations in regulators of the
RAS/Extracellular Regulated Kinase 1/2 (ERK1/2) signaling cascade that often result in …

Background Cardio‐facio‐cutaneous (CFC) syndrome is a human multiple congenital
anomaly syndrome that is caused by activating heterozygous mutations in either BRAF …