enzyme that in humans is encoded by the PTPN11 gene. PTPN11 is a protein tyrosine phosphatase (PTP) Shp2. PTPN11 is a member of the protein tyrosine phosphatase...

genes are involved in the genetic etiology of NS, with the key ones being PTPN11 accounting for 50% of genetically diagnosed cases, SOS1 responsible for...

mutation in the protein tyrosine phosphatase, non-receptor type 11 gene (PTPN11). The disease is a complex of features, mostly involving the skin, skeletal...

mutations in HRAS. Mutations that cause Noonan syndrome have been found in PTPN11 and SOS1. The relative severity of CFC when compared to Noonan syndrome...

tumors may seen in the context of LEOPARD syndrome, due to a mutation in the PTPN11 gene. These tumors, on occasion, may appear similar to neoplasms of renal...

including: CDKN2A/B, PTEN, and RB1. Another related mutation is to the PTPN11 gene, which is known to be related to histiocytosis and cancer in humans...

researchers looked at and around the most common Noonan syndrome mutation, PTPN11, but did not find anything related to Costello syndrome or cardiofaciocutaneous...

GLDC, AMT, GCSH recessive 1:60,000 Nonsyndromic deafness Noonan syndrome PTPN11, KRAS, SOS1, RAF1, NRAS, HRAS, BRAF, SHOC2, MAP2K1, MAP2K2, CBL dominant...

LCP2; LYN MATK; NCK1; NCK2 PIK3R1; PIK3R2; PIK3R3; PLCG1; PLCG2; PTK6; PTPN11; PTPN6; RASA1 SH2B1; SH2B2; SH2B3; SH2D1A; SH2D1B; SH2D2A; SH2D3A; SH2D3C;...

RASopathy: HRAS KRAS NRAS RRAS RIT1 NF1 RASA1 RASA2 SYNGAP1 SOS1 SOS2 CBL PTPN11 BRAF RAF1 MAP2K1 MAP2K2 MAP3K8 SPRED1 SPRY1 MYST4 LZTR1 A2ML1 Rauen KA (2022)...

as a binding protein and substrate of protein tyrosine phosphatase Shp2/PTPN11. Two other groups later cloned GAB2 by searching DNA database for protein...

Noonan syndrome has also been shown to be caused by mutations in KRAS and PTPN11 genes. A common feature of these genes is that their products have all been...

CRK, CRKL, DOK1, FES, GRB10, Grb2, KITLG, LNK, LYN, MATK, MPDZ, PIK3R1, PTPN11, PTPN6, STAT1, SOCS1, SOCS6, SRC, and TEC. Cytokine receptor List of genes...

has been shown to interact with ENPP1, GRB10, GRB7, IRS1, MAD2L1, PRKCD, PTPN11, and SH2B1. GRCh38: Ensembl release 89: ENSG00000171105 – Ensembl, May 2017...

with: DNAJA3 EGFR EPOR FYN Grb2 GHR IRS1 IL12RB2 IL5RA PIK3R1 PPP2R4 PTK2 PTPN11 PTPN6 PRMT5 SH2B1 SHC1 SOCS3 STAT5A STAT5B STAM SOCS1 TEC TNFRSF1A VAV1...

leukemia cells) Another 35% of patients with a mutation in a gene called PTPN11 (again, only in their leukemia cells). The following criteria are required...

joints, and flat bones. The disease is thought to affect exon 4 of the PTPN11 gene. Metachondromatosis is believed to be caused by an 11 base pair deletion...

Multiple CGCGs can be found in individuals with Noonan syndrome. Mutations in PTPN11 or RAS pathway genes are seen. Radiographically, CGCGs have a rounded cyst-like...

Seki N (September 2010). "miR-489 is a tumour-suppressive miRNA target PTPN11 in hypopharyngeal squamous cell carcinoma (HSCC)". British Journal of Cancer...

genetic testing revealing that both of the siblings with NS share the same PTPN11 haplotype from both parents, while a distinct paternal and maternal haplotype...

adaptor and other cellular proteins, such as GRB2, IRS1, Shc, Src, FRS2, PTPN11/Shp2, PLCγ, PI3K, and NF1. Other reported downstream ALK targets include...

EGF, GRB14, Grb2, JAK2, MUC1, NCK1, NCK2 PKC alpha, PLCG1, PLSCR1, PTPN1, PTPN11, PTPN6, PTPRK, SH2D3A, SH3KBP1, SHC1, SOS1, Src, STAT1, STAT3, STAT5A, UBC...

encoding protein Proline-rich protein 4 PTMS: encoding protein Parathymosin PTPN11: protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)...

the Grb2 SH2 domain binding to activated PDGFR-bound SHP2 (also known as PTPN11, a cytosolic PTP), thereby allowing interaction with Ras and the exchange...

in the development of MDS, while mutations in signaling pathways (FLT3, PTPN11, and RAS) and transcription factors (CEBPA and RUNX1) occur as a late event...

with: Grb2, HER2/neu, Janus kinase 1 Leukemia inhibitory factor receptor, PTPN11, SHC1, SOCS3, and TLE1. GRCh38: Ensembl release 89: ENSG00000134352 – Ensembl...

shown to interact with: ELP2, GNB2L1 IL6ST, Grb2, IL2RB, IRS1, IL10RA, PTPN11, STAM2, STAT3, STAT5A, STAT5B, and TNFRSF1A. Janus kinase inhibitor GRCh38:...

P29350 13133 PTPN7 HGNC:9659 P35236 13134 PTPN9 HGNC:9661 P43378 13135 PTPN11 HGNC:9644 Q06124 13136 PTPN12 HGNC:9645 Q05209 13137 PTPN13 HGNC:9646 Q12923...

is linked Noonan syndrome 1 that is caused by heterozygote mutation in PTPN11 gene product, SH-PTP2, and primarily causing facial developmental defects...

S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD (2001). "Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome"...