These findings define and validate a distinct DNAm episignature for WSKA, providing a valuable diagnostic biomarker to sup - port variant classification and offering insight into the epigenomic consequences of ZNF462 haploinsufficiency.
Results showed that BHF177 selectively blocked nicotine self-administration and prevented cue-induced reinstatement of nicotine seeking, with minimal effects on responding for food and no effect on cue-induced reinstatement of food seeking, which could be useful therapeutics for the treatment of different aspects of nicotine dependence.
S. Vlachou, S. Guéry, Wolfgang Froestl et al.· Psychopharmacology· 770 citations· ⚡47
This case expands the clinical spectrum associated with RFX3 variants, supporting a potential role in IESS and early neurodevelopmental disruption, and highlights the relevance of including RFX3 in the genetic evaluation of patients with IESS and co-occurring neurodevelopmental disorders.
Graziana Ceraolo, Giulia Spoto, M. Trivisano et al.· International Journal of Mol...· 0 citations
The biological plausibility of LNX2 as a candidate gene for neurodevelopmental disorders is supported, highlighting its preferential association with neuronal projection-cell networks, synaptic vesicle trafficking pathways, and neuron-specific regulatory programs.
M. Vinci, M. Figura, A. Musumeci et al.· Genes· 0 citations