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Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome
We identified two novel genes, SOS2 (show SOS2 Antibodies) and LZTR1 (show LZTR1 Antibodies), associated with Noonan syndrome, thereby expanding the molecular spectrum of RASopathies.
multicenter pharmacogenetic study in children (ages 6-11): Data suggest that SNP in SOS2 (rs13379306) in children with growth hormone deficiency is associated with drug resistance to hormone replacement therapy with recombinant human growth hormone.
intracellular Francisella tularensis novicida triggers temporal and early activation of Ras through the SOS2/GrB2/PKCalpha/PKCbetaI quaternary complex; Ras signalling by intracellular F. tularensis is essential for intracellular proliferation in the cytosol
Significant association of single nucleotide polymorphism within three genes--PPARgamma (show PPARG Antibodies), SOS2 (show SOS2 Antibodies), and PCK1 (show PCK1 Antibodies)--with Alzheimer's disease, was confirmed.
Loss of MADD (show ETFA Antibodies) expression resulted in reduced Grb2 (show GRB2 Antibodies) and Sos1 (show SOS1 Antibodies)/2 recruitment to the TNFR1 (show TNFRSF1A Antibodies) complex and decreased Ras and MEKK1 (show MAP3K1 Antibodies)/2 activation
Members of the RAS (see HRAS\; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF5, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000
, M-Ras-regulated Rap GEF
, guanine nucleotide exchange factor for Rap1
, rap guanine nucleotide exchange factor 5
, related to Epac
, Mras regulated guanine nucleotide exchange factor
, guanine nucleotide exchange factor
, Rap guanine nucleotide exchange factor (GEF) 5
, rap guanine nucleotide exchange factor 5-like