Mohammad Reza Ahmadian

TL;DR: The association between JMML outcome and mutational profile suggests a dose-dependent effect for RAS pathway activation, distinguishing very aggressive JMML rapidly progressing to acute myeloid leukemia.

TL;DR: Among patients with Epstein-Barr virus-driven lymphoproliferative disorders (EBV-LPD), negative for mutations in SH2D1A and XIAP, two patients are identified with R29H or D500T,F501L,M503X mutations, respectively.

TL;DR: Findings provide evidence of a functional link between RRAS and MAPK signalling and reveal an unpredicted role of enhanced RRAS function in human disease.

TL;DR: It is reported that missense variants in CDC42, a gene encoding a small GTPase functioning as an intracellular signaling node, underlie a clinically heterogeneous group of phenotypes characterized by variable growth dysregulation, facial dysmorphism, and neurodevelopmental, immunological, and hematological anomalies, including a phenotype resembling Noonan syndrome.

TL;DR: In silico, in vitro, and in vivo analyses are used to correlate the molecular mechanisms altering CDC42 function to the observed phenotype and characterize a novel hematological/autoinflammatory disorder due to a de novo recurrent missense mutation of CDC42.