Associated Papers
Novel SOS1 Mutations Associated With Hereditary Gingival Fibromatosis and Dual-Gated Model for SOS1 Activation.
Gao Q et al.
Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2025
Incidental SOS1 variant identified by non-invasive prenatal screening: Prenatal diagnosis and family clinical reassessment.
Mastromoro G et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2021
SOS GEFs in health and disease.
Baltanás FC et al.
Biochimica Et Biophysica Acta. Reviews on Cancer, 2020
SOS1 Gain-of-Function Variants in Dilated Cardiomyopathy.
Cowan JR et al.
Circulation. Genomic and Precision Medicine, 2020
The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway.
Tajan M et al.
Endocrine Reviews, 2018
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.
Fahrner JA et al.
American Journal of Medical Genetics. Part A, 2012
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
Lepri F et al.
Human Mutation, 2011
Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms.
Tartaglia M et al.
Annals of the New York Academy of Sciences, 2010
Long-term GH treatment improves adult height in children with Noonan syndrome with and without mutations in protein tyrosine phosphatase, non-receptor-type 11.
Noordam C et al.
European Journal of Endocrinology, 2008
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.
Narumi Y et al.
Journal of Human Genetics, 2008
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.
Zenker M et al.
Journal of Medical Genetics, 2007