Shoc2 mutation
Web13 Jul 2024 · The SHOC2-MRAS-PP1C complex is made up of three proteins that regulate the RAS signaling pathway and help cancer cells with RAS mutations survive. Some of the … Web8 Mar 2011 · For approximately half of the cases, mutations in BRAF, MAP2K1, SHOC2, CBL, and NRAS had also been excluded. Besides this large cohort, nine subjects with features fitting CFCS and no mutation in KRAS, BRAF, MAP2K1, or MAP2K2 (group 2) [Sarkozy et al., 2009a] were also included in the study.
Shoc2 mutation
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WebThe only previously identified missense mutation in SHOC2, a scaffold protein of the ERK1/2 pathway, led to Noonan-like syndrome with loose anagen hair. Here, we report a novel mutation in SHOC2(c.519G>A; p.M173I) that leads to a Rasopathy with clinical features partially overlapping those occurring in Noonan and cardiofaciocutaneous syndromes. Web18 Jun 2024 · MRAS/SHOC2 expression levels in T-17 cells did not prove to be tuneable because at the lowest Dox concentration that in-duced expression, there was a maximum effect on MRAS/ SHOC2 protein levels and concomitant S365 dephosphorylation (Fig. 1 D and E). When ectopic T6-BRAF in these cells was purified with streptactin beads, …
Web1 May 2014 · It is reported on a patient with molecularly confirmed NS/LAH with coarctation of the aorta with facial dysmorphism typical of NS with redundant skin over the nape and on the back. Noonan‐like syndrome with loose anagen hair (NS/LAH; OMIM 607721) due to a missense mutation c.4A>G in SHOC2 predicting p.Ser2Gly has been described recently. … Web28 Jan 2010 · The entire SHOC2 coding sequence was analyzed by genomic sequencing in granulocyte DNA from bone marrow or peripheral blood of the 22 JMML patients. …
Web16 Oct 2024 · The scaffold protein Shoc2 amplifies the activity of the ERK1/2 pathway and is an essential modulator of a variety of signaling inputs. Germline mutations in Shoc2 are associated with the human developmental disease known as the Noonan-like syndrome with loose anagen hair. WebThe co-occurrence of pathogenic variants in these RASopathies genes are less frequent but have already been described involving PTPN11 and SOS1, 42 PTPN11 e SHOC2, 43 NF1 e KRAS, 44 and PTPN11 and NF1 genes. 45–47 Cardiac and neurological manifestations were more severe in patients presenting mutations in both PTPN11 and NF1 genes than …
WebCitation 48 A large transcriptional signature characterized for the Shoc2 S2G mutation indicated a unique, Shoc2-specific route for the signaling it controls. Interestingly, the alterations in the expression of transcription factors (TFs) found in Shoc2 (S2G) patients had very little overlap with identities of TFs expression affected by the depletion of Shoc2, …
Web27 Jul 2024 · Based on a systems biology approach that identified SHOC2 as a candidate gene, Cordeddu et al. (2009) sequenced SHOC2 coding exons in a Noonan syndrome … darwin markets thursdayWeb29 Sep 2024 · SHOC2 has also been identified as the strongest synthetic lethal target in the presence of MEK inhibitors in KRAS-mutant lung and pancreatic cancer cell lines 17. Thus, … darwin martin house windowsWeb7 Dec 2012 · ERK1/2 signaling is frequently dysregulated in tumors through BRAF mutation. Targeting mutant BRAF with vemurafenib frequently elicits therapeutic responses; however, durable effects are often limited by ERK1/2 pathway reactivation via poorly defined mechanisms. ... SHOC2 was required, at least partially, for the survival of BRAF V600E … darwin martin houseWebSHOC2 has been shown to interact with the catalytic phosphatase subunit PP1C(PMID 16630891) and MRAS as well as canonical RAS isoforms (H/K/NRAS)(PMID 35768504, 35831509, 35830882). The ternary complex SHOC2-RAS-PP1C functions to dephosphorylate an inhibitory phosphorylation site ('S259') on RAF family proteins to enable MAPK … darwin marvel comicsWeb14 Jul 2024 · This three-protein assembly, called the SHOC2-MRAS-PP1C (“SMP”) complex, regulates the RAS signaling pathway and helps cancer cells with RAS mutations survive. The high-resolution structure of this complex, revealed through X-ray crystallography and cryogenic electron microscopy, suggests possible ways that drugs can bind to it to inhibit … bitch came back lyricsWebSHOC2 Gene Mutation (Concept Id: C5556631) A change in the nucleotide sequence of the SHOC2 gene. SHOC2 Gene Mutation MedGen UID: 1793072 •Concept ID: C5556631 Cell or Molecular Dysfunction Synonyms: SHOC2 Leucine Rich Repeat Scaffold Protein Gene Mutation; Soc-2 Suppressor of Clear Homolog Gene Mutation; SOC2 Gene Mutation; SUR8 … darwin martin house tourWeb1 Dec 2015 · Mutations in Shoc2 result in Noonan-like RASopathy, a developmental disorder with a wide spectrum of symptoms. The amplitude of the ERK1/2 signals transduced through the complex is fine-tuned by the HUWE1-mediated ubiquitylation of Shoc2 and its signaling partner RAF-1. Here, we provide a mechanistic basis of how ubiquitylation of … darwin martin house la maison darwin martin