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 …

Insulin signaling controls cell growth and metabolic homeostasis. Dysregulation of this
pathway causes metabolic diseases such as diabetes. Insulin signaling pathways have …

Diagnostics and therapies have shown evident advances. Tumour surgery, chemotherapy
and radiotherapy are the main techniques in treat cancers. Targeted therapy and drug …

Over the two past decades, mutations of the PTPN11 gene, encoding the ubiquitous protein
tyrosine phosphatase SHP2 (SH2 domain-containing tyrosine phosphatase 2), have been …

RASopathies are a family of developmental disorders that share germline mutations in the
components of the RAS-MAPK pathway leading to dysregulated signalling. A high …

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

Insulin resistance is a key event in type 2 diabetes onset and a major comorbidity of obesity.
It results from a combination of fat excess–triggered defects, including lipotoxicity and …

RASopathies are developmental disorders caused by germline mutations in the Ras-MAPK
pathway, and are characterized by a broad spectrum of functional and morphological …

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 …