RAS genes encode a family of 21 kDa proteins that are an essential hub for a number of
survival, proliferation, differentiation and senescence pathways. Signaling of the RAS …

Juvenile myelomonocytic leukemia (JMML) is a typically aggressive myeloid neoplasm of
childhood that is clinically characterized by overproduction of monocytic cells that can …

Myeloproliferative neoplasms are uncommon disorders in children, for which we have
limited understanding of the pathogenesis and optimal management. JAK2 and MPL …

Juvenile myelomonocytic leukemia (JMML) is a rare childhood leukemia that has historically
been very difficult to confidently diagnose and treat. The majority of patients ultimately …

Aberrant DNA methylation at specific genetic loci is a key molecular feature of juvenile
myelomonocytic leukemia (JMML) with poor prognosis. Using quantitative high-resolution …

We describe the development of acute myeloid leukemia (AML) in an adult with CBL
syndrome caused by a heterozygous de novo germline mutation in CBL codon D390. In the …

Germline mutations in the gene CBL (Casitas B‐lineage lymphoma), involved in the RAS‐
MAPK signaling pathway, have been found as a rare cause of the neuro‐cardio‐facial …

Juvenile myelomonocytic leukaemia (JMML) is a rare haematopoietic stem cell disease of
early childhood, which can progress to blast crisis in some children. A total of 153 children …

Noonan syndrome, a congenital disorder comprising a characteristic face, short stature,
heart defects, learning difficulties, and a predisposition to malignancies, is caused by …

We discovered that glioblastoma (GBM) cells use Cool‐1/β‐pix to inhibit normal activation of
the c‐Cbl ubiquitin ligase via the redox/Fyn/c‐Cbl pathway and that c‐Cbl inhibition is critical …