2024 Shoc2 gene mutation

Shoc2 gene mutation

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August undefined, 2024

Web5 Nov 2024 · Mutations in SHOC2 lead to the development of the pathology termed Noonan-like Syndrome with Loose Anagen Hair (NSLAH). However, the mechanisms underlying … Web15 Jul 2024 · The SHOC2-MRAS-PP1C (“SMP”) complex, a three-protein assembly, regulates the RAS signaling pathway and aids cancer cells with RAS mutations in survival. The high …

SHOC2–MRAS–PP1 complex positively regulates RAF activity and …

WebThe recently identified SHOC2 mutation (p.Ser2Gly) causes Noonan syndrome with loose anagen hair. We report five patients with this mutation. All had skin hyperpigmentation, … Web18 Aug 2014 · This SHOC2 variant thus is unable to fully rescue ERK1/2 activity in cells depleted of endogenous SHOC2. We conclude that SHOC2 mutations can cause a … expectations follow up email

The FBXW7-SHOC2-Raptor Axis Controls the Cross-Talks

WebNoonan and Noonan-related syndromes are common autosomal dominant disorders with neuro-cardio-facial-cutaneous and developmental involvement. The objective of this article is to describe the most relevant tegumentary findings in a cohort of 41 Web1 Jun 2024 · NS/LAH was first described by Mazzanti et al in 2003. 2 A missense mutation of the SHOC2 gene (c.4A>G, p.S2G), discovered in 2009, causes NS/LAH. 3 SHOC2 is a … WebSoc-2 suppressor of clear homolog (SHOC2) is a gene that encodes a protein that functions in the RAS/ERK MAP kinase signaling pathway as a scaffold linking Ras to downstream … bts ot7 laptop wallpaper

Rare copy number variations containing genes involved in …

Shoc2 gene mutation

New protein complex structure reveals possible ways to target key …

Web29 Sep 2024 · Here we present a cryo-electron microscopy structure of the SHOC2-PP1C-MRAS complex to an overall resolution of 3 Å, revealing a tripartite molecular architecture in which a crescent-shaped SHOC2 acts as a cradle and brings together PP1C and MRAS. ... Our data indicate that disease-relevant mutations affect complex assembly, reveal the ... WebThese data indicate that SHOC2 may be a therapeutic target for patients with NSCLC or a biomarker to predict sensitivity to EGFR-TKI therapy in EGFR mutation-positive patients …

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WebNo SHOC2 mutations were identified in leukemia cells from 82 leukemia patients. These results suggest that clinical manifestations in SHOC2 mutation-positive patients partially … WebPubMed Central (PMC)

WebNM_007373.4(SHOC2):c.-264A>T Cite this record. Cite this record Close. Copy. Help Interpretation: Uncertain significance Review status: criteria provided, single submitter Submissions: 1 First in ClinVar: ... Web1 Sep 2010 · Recently, a gain-of-function mutation in SHOC2, p.S2G, has been identified as causative for a type of Noonan-like syndrome characterized by the presence of loose …

Web30 Sep 2010 · Europe PMC is an archive of life sciences journal literature. Search life-sciences literature (Over 39 million articles, preprints and more) WebBurkitt Wright, Emma ; Burkitt, Wright EMM ; Shorto, S et al. / SHOC2 mutations in cardio-facio-cutaneous syndrome. Poster session presented at European Society for Human …

Web17 Jun 2024 · Germline mutations in the SHOC2 gene (c.4A>G, p.S2G, c.519G>A; p.M173I and c.807_808delinsTT, p.Gln269_His270delinsHisTyr mutation) cause a distinctive …

Web16 Apr 2014 · Activating gain-of-function mutations in SHOC2 cause NS with loose anagen hair. Interestingly, only one recurrent SHOC2 mutation (p.S2G) has been described . A high frequency of short stature (100%) and intellectual disability (84%) was observed in NS with loose anagen hair . However ... bts ot7 watpad ffWebShoc2 function is essential for activation of the MAPK pathway by growth factors. Furthermore, in tumor cells with Ras gene mutations, inhibition of Shoc2 expression inhibits MAPK, but not PI3K activity. We propose that the Shoc2-PP1c holoenzyme provides an attractive therapeutic target for inhibition of the MAPK pathway in cancer. bts ot7 storiesWeb30 Sep 2010 · In order to understand the contribution of SHOC2 mutations to the clinical manifestations of Noonan syndrome and related disorders, we analyzed SHOC2 in 92 … btso telefonWebAll Mutations and Alleles. 30. Gene trapped. 26. Targeted. 4. Find Mice (IMSR) 39 strains or lines available. Comparison Matrix. Gene Expression + Phenotype. Shoc2 is essential for … bts ot7 x reader smutWeb21 Jun 2013 · In Shoc2-tRFP 6 “silent” mutations were introduced to generate it to be resistance to shRNA without changing its amino acid sequence . The control cells expressing either non-targeting shRNA (LV-NT) or Shoc2 specific shRNA only (LV1) have been developed and reported previously, and have been used in the following experiments … bts ot7 wallpaper for laptopWeb5 Aug 2013 · The recently identified SHOC2 mutation (p.Ser2Gly) causes Noonan syndrome with loose anagen hair. We report five patients with this mutation. We report five patients … bts ot7 yandere x reader tumblrWeb8 Sep 2024 · The SHOC2 gene mutation causes type 1 Noonan syndrome with loose anagen hair (NSLH1) and the PPP1CB gene mutation causes NSLH2. Protein phosphatase 1 … bts otd