Enhanced signaling through RAS and the mitogen‐associated protein kinase (MAPK)
cascade underlies the RASopathies, a family of clinically related disorders affecting …

Somatically acquired genetic abnormalities lead to the salient features that define
myelodysplastic syndromes (MDS): clonal hematopoiesis, aberrant differentiation …

Diverse cellular processes are regulated by tyrosyl phosphorylation, which is controlled by
protein-tyrosine kinases (PTKs) and protein-tyrosine phosphatases (PTPs). De-regulated …

Germline mutations in PTPN11, the gene encoding the protein tyrosine phosphatase SHP-2,
cause Noonan syndrome (NS) and the clinically related LEOPARD syndrome (LS), whereas …

The RAS proteins and their downstream pathways play pivotal roles in cell proliferation,
differentiation, survival and cell death, but their physiological roles in human development …

▪ Abstract Noonan syndrome is a pleiomorphic autosomal dominant disorder with short
stature, facial dysmorphia, webbed neck, and heart defects. In the past decade, progress …

Germ line PTPN11 mutations cause 50% of cases of Noonan syndrome (NS). Somatic
mutations in PTPN11 occur in 35% of patients with de novo, nonsyndromic juvenile …

Noonan syndrome (NS) is a relatively common, clinically variable and genetically
heterogeneous developmental disorder characterized by postnatally reduced growth …

Abstract The 2001 World Health Organization (WHO)-sponsored classification of
hematopoietic tumors has, for the first time, clearly defined a group of rare myeloid …

Progress in understanding the molecular pathogenesis of human myeloproliferative
disorders (MPDs) has led to guidelines incorporating genetic assays with histopathology …