Tyrosine-protein phosphatase non-receptor type 11 (PTPN11) also known as protein-tyrosine phosphatase 1D (PTP-1D), Src homology region 2 domain-containing phosphatase-2 (SHP-2), …

At least 11 mutations in the PTPN11 gene have been found to cause Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome). This condition is characterized by …

Dec 25, 2024 · PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) is a Protein Coding gene. Diseases associated with PTPN11 include Noonan Syndrome 1 and Juvenile …

PTPN11 as the first proto-oncogene that encodes a cytoplasmic tyrosine phosphatase with Shp2 domain; diseases caused by mutations; role in hematopoiesis; PTPN11 missense mutations …

Patients with N-terminal SH2 domain PTPN11 mutations had an early death (<30 days) more often than those with phosphatase domain mutations. PTPN11 mutations are associated with …

The PTPN11 mutation was predicted to destabilize the inactive form of PTPN11, resulting in increased basal activity and a gain of function. The proband had hypertelorism, low-set ears, …

Jan 4, 2025 · Clinical resource with information about PTPN11, A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium., …

Recent studies identified somatic gain-of-function mutations in PTPN11, which encodes the Shp2 tyrosine phosphatase, in childhood leukemias and, rarely, in adult leukemias and solid tumors. …

Among 1406 consecutive patients, 112 (8%) had PTPN11 mut. These mutations were more commonly associated with the acute myelomonocytic/monocytic leukemia subtype than was …

Jul 1, 2022 · The PTPN11 gene encodes the non-receptor-type protein tyrosine phosphatase SHP-2, the cytoplasmic protein-tyrosine phosphatase that contains two Src homology …