Giovanni Neri

TL;DR: The difference in the incidence of AKT2 alterations in ovarian and breast cancer suggests a specific role for this gene in ovarian oncogenesis and a significant association was found betweenAKT2 amplification and amplification of the proto‐oncogenes MYC and ERBB2, suggesting that amplification of AKt2 defines an independent subset of breast and ovarian cancers.

TL;DR: To identify the causative gene, breakpoints in two female patients with X;autosome translocations were identified and initial western- and ligand-blotting experiments suggest that glypican 3 forms a complex with insulin-like growth factor 2 (IGF2), and might thereby modulate IGF2 action.

TL;DR: An antagonist for the metabotropic glutamate receptor may improve symptoms in patients with fragile X syndrome whose FMR1 promoters are fully methylated, a sign that gene expression is completely silenced, and provides the basis for a larger study to test whether methylation can serve as a predictor of a positive antagonist response in a population of patients with Fragile X syndrome.

TL;DR: Dysregulation of the RAS-RAF-ERK pathway is a common molecular basis for the three related disorders of Cardio-facio-cutaneous syndrome, which phenotypically overlaps with Noonan and Costello syndrome.

TL;DR: In mice, it is found that FMRP binds, in vivo, the mRNA encoding PSD-95, a key molecule that regulates neuronal synaptic signaling and learning, and evidence that dysregulation of mRNA stability may contribute to the cognitive impairments in individuals with FXS is provided.