Ontology highlight
ABSTRACT:
INSTRUMENT(S): Q Exactive HF
ORGANISM(S): Homo Sapiens (human)
SUBMITTER: alessandro cuomo
LAB HEAD: Giuseppe Testa
PROVIDER: PXD036770 | Pride | 2024-01-26
REPOSITORIES: Pride
Items per page: 5 1 - 5 of 21 |
López-Tobón Alejandro A Shyti Reinald R Villa Carlo Emanuele CE Cheroni Cristina C Fuentes-Bravo Patricio P Trattaro Sebastiano S Caporale Nicolò N Troglio Flavia F Tenderini Erika E Mihailovich Marija M Skaros Adrianos A Gibson William T WT Cuomo Alessandro A Bonaldi Tiziana T Mercurio Ciro C Varasi Mario M Osborne Lucy L Testa Giuseppe G
Science advances 20231129 48
Copy number variations at 7q11.23 cause neurodevelopmental disorders with shared and opposite manifestations. Deletion causes Williams-Beuren syndrome featuring hypersociability, while duplication causes 7q11.23 microduplication syndrome (7Dup), frequently exhibiting autism spectrum disorder (ASD). Converging evidence indicates <i>GTF2I</i> as key mediator of the cognitive-behavioral phenotypes, yet its role in cortical development and behavioral hallmarks remains largely unknown. We integrated ...[more]