Shoc2 gene mutation
WebHelp Interpretation: Conflicting interpretations of pathogenicity Uncertain significance(1); Benign(1) Review status: Web21 Mar 2024 · SHOC2 (SHOC2 Leucine Rich Repeat Scaffold Protein) is a Protein Coding gene. Diseases associated with SHOC2 include Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 and Noonan Syndrome-Like Disorder With Loose Anagen Hair. Among its …
Shoc2 gene mutation
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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 … WebSHOC2 mutations in NS enhances complex formation with MRAS and PP1. (A) FLAG IPs/lysates from HEK293T transfected with FLAG–SHOC2 WT/mutant or GFP plus …
Web13 May 2024 · This RASopathy is caused by mutations in a critical regulator of the ERK1/2 pathway, Shoc2. Patients harboring shoc2mutations have structural deficiencies common among RASopathies (e.g., altered pigmentation, craniofacial defects, valve disorders). Many NSLAH features could involve defects in the development of neural crest (NC). Web13 May 2024 · This RASopathy is caused by mutations in a critical regulator of the ERK1/2 pathway, Shoc2. Patients harboring shoc2mutations have structural deficiencies common …
Web12 Mar 2024 · SHOC2 mutations were found in lung cancer tissues with gain-of-function activity. Collectively, the SHOC2-Raptor interaction triggers negative cross-talk between RAS-ERK and mTORC1 pathways, whereas FBXW7 regulates both pathways by targeting SHOC2 for ubiquitylation and degradation. Web7 Aug 2024 · To test this idea, Jones et al. genetically modified mice to eliminate SHOC2. Excitingly, this suppressed tumour development and enhanced survival in a mouse model …
WebThe scaffold protein Shoc2 is critical for transmission of the ERK1/2 pathway signals. Shoc2 accelerates ERK1/2 signaling by integrating Ras and RAF-1 enzymes into a multi-protein complex. Germ-line mutations in . shoc2. cause Noonan-like RASopathy, a disorder with a wide spectrum of developmental deficiencies. However, the physiological
WebShoc2 is essential for embryonic development, as germline deletion results in early embryonic lethality. Endothelial cell-specific deletion causes defects in cardiac development, and results in late embryonic/early fetal lethality. Gene Ontology (GO) Classifications less All GO Annotations 9 GO References 2 Expression less Expression Overview pvc stolarija hram 032WebNM_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: ... domani draghiWeb5 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 … domani gara motogpWeb8 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 … domani eobWeb21 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 … pvc stolarija hrWeb15 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 … domani g7Web25 Mar 2024 · Hypertrophic cardiomyopathyGene: SHOC2. Red List (low evidence) SHOC2 (SHOC2, leucine rich repeat scaffold protein) EnsemblGeneIds (GRCh38): … pvc stolarija iskustva