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 …

Costello syndrome (CS) is a RASopathy caused by activating germline mutations in HRAS.
Due to ubiquitous HRAS gene expression, CS affects multiple organ systems and …

The small GTPases from the Ras superfamily play crucial roles in basic cellular processes
during practically the entire process of neurodevelopment, including neurogenesis …

Mitochondria are dynamic cellular organelles responsible for a large variety of biochemical
processes as energy transduction, REDOX signaling, the biosynthesis of hormones and …

Congenital heart disease (CHD) and hypertrophic cardiomyopathy (HCM) are common
features in patients affected by RASopathies. The aim of this study was to assess genotype …

Noonan syndrome: an update on growth and development : Current Opinion in
Endocrinology, Diabetes and Obesity Noonan syndrome: an update on growth and …

The RAS pathway is a highly conserved cascade of protein-protein interactions and
phosphorylation that is at the heart of signalling networks that govern proliferation …

Noonan syndrome (NS) is a disorder characterized by a typical facial gestalt, congenital
heart defects, variable cognitive deficits, skeletal defects, and short stature. NS is caused by …

Noonan, Costello, and cardio‐facio‐cutaneous syndrome are neurodevelopmental
disorders belonging to the RASopathies, a group of syndromes caused by alterations in the …