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The overall VUS frequency was twice as high in prenatal specimens (58.1 vs. 29.3%). PTPN11 and SOS1 had a 1.5-fold higher VUS frequency in the prenatal cohort (10.7 vs. 7.4% and 95 vs. 61.1%, respectively). The diagnostic yield was 3.7% for prenatal samples, with a higher yield of 12.3% in fetuses with cystic hygroma as a sole finding, and 21.3% for postnatal
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SOS1 is required for full transformation and critically contribute to the leukemogenic potential of BCR-ABL.
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a distinct role of the C-terminal proline-rich (PR) domain of the full-length son of sevenless homolog 1 (SOS1) protein.
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SOS1 was statistically significantly associated with gestational diabetes mellitus risk after adjusting for multiple comparisons
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Findings identified p.Ser548Arg missense mutation in Son of Sevenless Homolog 1 (SOS1) in the boy, confirmed in his mother.
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We report on a novel pathogenic mutation in the SOS1 gene and a large clinical spectrum in a Noonan syndrome family with ten genetically confirmed affected individuals.
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Data indicate dynamic of H-Ras functional cycle as controlled by son of sevenless homolog 1 (Sos).
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In summary, patients from two families with history of non-syndromic autosomal-dominant HGF from Malopolska and Mazovia provinces in Poland had not been affected by HGF type 1, caused by a single-cytosine insertion in exon 21 of the SOS-1 gene.
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Mutation scanning of the entire coding sequence of SOS1 gene identified seven intronic variants and one new exonic substitution (c.138G > A). The seven common intronic variants were not considered to be of pathogenic importance. The exonic substitution c.138G > A was found to be absent in 100 ethnically matched normal control chromosomes, not expected to have functional significance based on prediction bioinformatics tool
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Grb2-independent interactions are sufficient to retain human SOS on the membrane for many minutes, during which a single SOS molecule could processively activate thousands of Ras molecules.
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a computational methodology that overlays any variant database onto the somatic mutations in all cancer exomes identified activating SOS1 mutations associated with Noonan syndrome as significantly altered in melanoma
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Data show that a heterozygous son of sevenless homolog 1 (SOS1) gene frameshift mutation (c.3266dup or c.3248dup) was identified in each patient.
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Ras.GDP weakly binds to the catalytic but not to the allosteric site of Sos.
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The present study provides a first evidence of allelic imbalance of SOS1 and pinpoints this condition as a possible mechanism underlying a different penetrance of some SOS1-mutated alleles in unrelated carriers
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In non-apoptotic cells, nuclear EGFR induced SOS1 expression by directly binding to the SOS1 promoter.
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rs963731 is associated with corticobasal degeneration.
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findings suggest that targeting the Src/Abl/Sos1/Rac pathway may represent a double-edged sword to control both cancer-invasive capacities and cancer-related inflammation.
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These data demonstrated the negative regulation between miR-146a and SOS1 and between miR-370 and GADD45beta and that these regulations are influenced by enterovirus 71 to induce apoptosis.
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Combined rational design and a high throughput screening platform for identifying chemical inhibitors of a Ras-activating enzyme.
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SOS1 and Ras regulate epithelial tight junction formation in the human airway through EMP1.
