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 …

Mar 30, 2025 · 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 …

We recently demonstrated that mutations in PTPN11, the gene encoding the non–receptor-type protein tyrosine phosphatase SHP-2 (src homology region 2-domain phosphatase–2), cause …

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 …

One new advance in this field is the identification of PTPN11 as the first proto-oncogene that encodes a cytoplasmic tyrosine phosphatase with 2 Src-homology 2 (SH2) domains (Shp2). …

Jan 4, 2025 · PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. …

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, …

PTPN11 is a gene that produces SHP2, a tyrosine phosphatase (PTP) protein. A gain of function mutation in PTPN11 is responsible for approximately 50% of cases of Noonan syndrome (NS).