Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

(2013) Yoko Aoki et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The RASopathies

(2013) Katherine A. Rauen   Annual Review of Genomics and Human Genetics

Noonan syndrome

(2013) Amy E Roberts et al.   LANCET

Autoimmunity and persistent RAS-mutated clones long after the spontaneous regression of JMML

(2013) M Takagi et al.   LEUKEMIA

Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia

(2013) Hirotoshi Sakaguchi et al.   NATURE GENETICS

Genes2FANs: connecting genes through functional association networks

(2012) Ruth Dannenfelser et al.   BMC BIOINFORMATICS

Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous syndromes

(2012) I. C. Cirstea et al.   HUMAN MOLECULAR GENETICS

Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes

(2011) Christian P. Kratz et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Gene mutations in the Ras pathway and the prognostic implication in Korean patients with juvenile myelomonocytic leukemia

(2011) Hyung-Doo Park et al.   ANNALS OF HEMATOLOGY

Noonan syndrome and clinically related disorders

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

Recent advances in the pathogenesis and treatment of juvenile myelomonocytic leukaemia

(2011) Mignon L. Loh   BRITISH JOURNAL OF HAEMATOLOGY

The Ras-ERK and PI3K-mTOR pathways: cross-talk and compensation

(2011) Michelle C. Mendoza et al.   TRENDS IN BIOCHEMICAL SCIENCES

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

Genetic typing of CBL, ASXL1, RUNX1, TET2 and JAK2 in juvenile myelomonocytic leukaemia reveals a genetic profile distinct from chronic myelomonocytic leukaemia

(2010) Benoîte Pérez et al.   BRITISH JOURNAL OF HAEMATOLOGY

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

(2010) Lothar Gremer et al.   HUMAN MUTATION

Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation

(2010) Peng-Chieh Chen et al.   JOURNAL OF CLINICAL INVESTIGATION

The molecular pathology of cancer

(2010) Timothy J. R. Harris et al.   Nature Reviews Clinical Oncology

EGFRand K-rasMutations Along the Spectrum of Pulmonary Epithelial Tumors of the Lung and Elaboration of a Combined Clinicopathologic and Molecular Scoring System to Predict Clinical Responsiveness to EGFR Inhibitors

(2009) Giuliana Sartori et al.   AMERICAN JOURNAL OF CLINICAL PATHOLOGY

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

(2009) Viviana Cordeddu et al.   NATURE GENETICS

Detection of two novel mutations and relatively high incidence of H-RAS mutations in Vietnamese oral cancer

(2009) Avaniyapuram Kannan Murugan et al.   ORAL ONCOLOGY

Genotype-phenotype correlation in cases of juvenile myelomonocytic leukemia with clonal RAS mutations

(2008) C. Flotho et al.   BLOOD

Paediatric myelodysplastic syndromes and juvenile myelomonocytic leukaemia: molecular classification and treatment options

(2008) Charlotte Marie Niemeyer et al.   BRITISH JOURNAL OF HAEMATOLOGY

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

Noonan Syndrome/Leukemia-associated Gain-of-function Mutations in SHP-2 Phosphatase (PTPN11) Enhance Cell Migration and Angiogenesis

(2008) Siying Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Juvenile myelomonocytic leukemia and chronic myelomonocytic leukemia

(2008) P D Emanuel   LEUKEMIA

Leopard syndrome

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

Mapping the Nucleotide and Isoform-Dependent Structural and Dynamical Features of Ras Proteins

(2008) Alemayehu A. Gorfe et al.   STRUCTURE