Counteracting Effects Operating on Src Homology 2 Domain-containing Protein-tyrosine Phosphatase 2 (SHP2) Function Drive Selection of the Recurrent Y62D and Y63C Substitutions in Noonan Syndrome

Noonan syndrome and clinically related disorders

(2011) Marco Tartaglia et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms

(2010) Marco Tartaglia et al.   Annals of the New York Academy of Sciences

Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders

(2010) Lothar Gremer et al.   HUMAN MUTATION

Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation

(2009) Lothar Gremer et al.   HUMAN MOLECULAR GENETICS

Tumor Suppressor Density-enhanced Phosphatase-1 (DEP-1) Inhibits the RAS Pathway by Direct Dephosphorylation of ERK1/2 Kinases

(2009) Francesca Sacco et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes

(2008) Simone Martinelli et al.   HUMAN MOLECULAR GENETICS

GROMACS 4:  Algorithms for Highly Efficient, Load-Balanced, and Scalable Molecular Simulation

(2008) Berk Hess et al.   Journal of Chemical Theory and Computation

Leopard syndrome

(2008) Anna Sarkozy et al.   Orphanet Journal of Rare Diseases