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...
37 KB (4,304 words) - 05:41, 17 June 2024
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...
41 KB (4,206 words) - 02:06, 14 September 2024
mutation in the protein tyrosine phosphatase, non-receptor type 11 gene (PTPN11). The disease is a complex of features, mostly involving the skin, skeletal...
19 KB (1,967 words) - 15:43, 23 August 2024
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...
6 KB (525 words) - 04:19, 19 March 2024
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...
6 KB (704 words) - 14:33, 20 December 2023
TNFRSF6, SOS1, FASLG, RAG2, DNASE1, PSMA3, PSMB4, PSMB8, SHOC2, KRAS, PTPN11, PTEN, BLK, Bank1, CYBB, RNASEH2A, RNASEH2B, RNASEH2C, LRBA, CD70, Complement...
127 KB (13,911 words) - 22:23, 2 October 2024
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)...
5 KB (470 words) - 11:25, 24 August 2024
researchers looked at and around the most common Noonan syndrome mutation, PTPN11, but did not find anything related to Costello syndrome or cardiofaciocutaneous...
12 KB (1,406 words) - 23:36, 23 April 2023
GLDC, AMT, GCSH recessive 1:60,000 Nonsyndromic deafness Noonan syndrome PTPN11, KRAS, SOS1, RAF1, NRAS, HRAS, BRAF, SHOC2, MAP2K1, MAP2K2, CBL dominant...
42 KB (983 words) - 10:34, 21 August 2024
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...
41 KB (4,338 words) - 22:25, 1 September 2024
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...
7 KB (837 words) - 06:22, 8 August 2022
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...
35 KB (4,117 words) - 00:12, 6 August 2024
LCP2; LYN MATK; NCK1; NCK2 PIK3R1; PIK3R2; PIK3R3; PLCG1; PLCG2; PTK6; PTPN11; PTPN6; RASA1 SH2B1; SH2B2; SH2B3; SH2D1A; SH2D1B; SH2D2A; SH2D3A; SH2D3C;...
13 KB (1,341 words) - 04:09, 6 March 2024
has been shown to interact with ENPP1, GRB10, GRB7, IRS1, MAD2L1, PRKCD, PTPN11, and SH2B1. GRCh38: Ensembl release 89: ENSG00000171105 – Ensembl, May 2017...
31 KB (3,785 words) - 19:26, 2 September 2024
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...
28 KB (3,166 words) - 19:57, 8 August 2024
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...
27 KB (2,981 words) - 15:18, 28 February 2024
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...
7 KB (775 words) - 11:50, 25 March 2023
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...
11 KB (1,175 words) - 10:04, 3 December 2023
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...
13 KB (1,563 words) - 09:00, 13 March 2024
EGF, GRB14, Grb2, JAK2, MUC1, NCK1, NCK2 PKC alpha, PLCG1, PLSCR1, PTPN1, PTPN11, PTPN6, PTPRK, SH2D3A, SH3KBP1, SHC1, SOS1, Src, STAT1, STAT3, STAT5A, UBC...
60 KB (6,879 words) - 14:26, 16 July 2024
P29350 13132 PTPN7 HGNC:9659 P35236 13133 PTPN9 HGNC:9661 P43378 13134 PTPN11 HGNC:9644 Q06124 13135 PTPN12 HGNC:9645 Q05209 13136 PTPN13 HGNC:9646 Q12923...
282 KB (17 words) - 19:37, 1 October 2024
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...
11 KB (1,435 words) - 08:27, 22 August 2024
shown to interact with: ELP2, GNB2L1 IL6ST, Grb2, IL2RB, IRS1, IL10RA, PTPN11, STAM2, STAT3, STAT5A, STAT5B, and TNFRSF1A. Janus kinase inhibitor GRCh38:...
21 KB (2,423 words) - 03:55, 27 January 2024
with: Grb2, HER2/neu, Janus kinase 1 Leukemia inhibitory factor receptor, PTPN11, SHC1, SOCS3, and TLE1. GRCh38: Ensembl release 89: ENSG00000134352 – Ensembl...
18 KB (2,202 words) - 01:16, 14 June 2024
adaptor and other cellular proteins, such as GRB2, IRS1, Shc, Src, FRS2, PTPN11/Shp2, PLCγ, PI3K, and NF1. Other reported downstream ALK targets include...
48 KB (5,299 words) - 01:24, 9 March 2024
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...
51 KB (5,805 words) - 04:22, 28 September 2024
encoding protein Proline-rich protein 4 PTMS: encoding protein Parathymosin PTPN11: protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)...
27 KB (1,735 words) - 22:13, 28 March 2024
lifespan. Growth hormone receptor has been shown to interact with SGTA, PTPN11, Janus kinase 2, Suppressor of cytokine signaling 1 and CISH. The GHR gene...
18 KB (1,925 words) - 16:27, 31 March 2024
S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD (2001). "Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome"...
9 KB (1,111 words) - 03:13, 1 January 2024