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), …

2024年12月25日 · PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) is a Protein Coding gene. Diseases associated with PTPN11 include Noonan Syndrome 1 and Juvenile …

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 …

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 …

2022年2月25日 · Key Points. Patients with N-terminal SH2 domain PTPN11 mutations had an early death (<30 days) more often than those with phosphatase domain mutations.P

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. …

2025年1月4日 · Clinical resource with information about PTPN11, A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium., …

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 - protein tyrosine phosphatase non-receptor type 11 Synonym(s): BPTP3, PTP2C, SH-PTP2, SH2 domain-containing protein tyrosine phosphatase 2, SHP-2, SHP2 Previous …

2020年6月19日 · While germline and somatic mutations in the gene PTPN11, encoding a phosphatase which regulates the RAS signaling pathway, are well characterized in children …

2004年9月16日 · The clinical and biologic similarities between JMML and pediatric AML with PTPN11 alterations raise the possibility that both of these myeloid malignancies are initiated …

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).

2015年9月29日 · PTPN11 suppression is lethal to cells that are driven by activated RTKs and prevents acquired resistance to targeted cancer drugs that results from RTK activation. Our …

2005年2月1日 · The predominant human PTPN11 mRNA contains an open reading frame of 1,779 bases, resulting in a predicted protein of 593 amino acid residues. A second mRNA …

Noonan syndrome (NS) is a genetically heterogeneous disorder caused most commonly by activating mutations in PTPN11. We report a patient with hypotonia, developmental delay and …

2011年4月14日 · PTPN11 loss-of-function mutations in metachondromatosis. Our finding of nonsense, frameshift, and splice-site mutations in multiple exons, as well as a large deletion, …

2022年7月8日 · With the assistance of The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO), we have comprehensively mapped the expression profiles, prognostic …

2007年2月1日 · Recent studies identified somatic gain-of-function mutations in PTPN11, which encodes the Shp2 tyrosine phosphatase, in childhood leukemias and, rarely, in adult …

We focused on PTPN11 (HGNC:9644) Exon 3 that contains 30 different PTPN11 Noonan syndrome (NS) mutation sites. We found 14 of these variants formed clusters among the …