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

Phosphorylation is a reversible post-translational modification regulated by phosphorylase
and dephosphorylase to mediate important cellular events. Src homology-2-containing …

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

Noonan syndrome is a relatively common, clinically variable developmental disorder.
Cardinal features include postnatally reduced growth, distinctive facial dysmorphism …

The protein tyrosine phosphatase SHP2 encoded by PTPN11 is a promising therapeutic
target for cancer therapy, while the multifaceted roles of SHP2 complicate the drug discovery …

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 …

This review discusses the function of neural crest as they relate to cardiovascular defects.
The cardiac neural crest cells are a subpopulation of cranial neural crest discovered nearly …

LEOPARD syndrome (LS) is an autosomal dominant “RASopathy” that manifests with
congenital heart disease. Nearly all cases of LS are caused by catalytically inactivating …

The fast technological development, particularly single nucleotide polymorphism array, array-
comparative genomic hybridization, and whole exome sequencing, has led to the discovery …

RAS GTPases control a major signaling network implicated in several cellular functions,
including cell fate determination, proliferation, survival, differentiation, migration, and …