{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Mihailovich M"],"funding":["Ministero della Salute","European Research Council","Fondazione Umberto Veronesi fellowships","Ministry of Education, Science and Technological Development of the Republic of Serbia"],"pagination":["e168982"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11245157"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["134(14)"],"pubmed_abstract":["Copy number variation (CNV) at 7q11.23 causes Williams-Beuren syndrome (WBS) and 7q microduplication syndrome (7Dup), neurodevelopmental disorders (NDDs) featuring intellectual disability accompanied by symmetrically opposite neurocognitive features. Although significant progress has been made in understanding the molecular mechanisms underlying 7q11.23-related pathophysiology, the propagation of CNV dosage across gene expression layers and their interplay remains elusive. Here we uncovered 7q11.23 dosage-dependent symmetrically opposite dynamics in neuronal differentiation and intrinsic excitability. By integrating transcriptomics, translatomics, and proteomics of patient-derived and isogenic induced neurons, we found that genes related to neuronal transmission follow 7q11.23 dosage and a"],"journal":["The Journal of clinical investigation"],"pubmed_title":["Multiscale modeling uncovers 7q11.23 copy number variation-dependent changes in ribosomal biogenesis and neuronal maturation and excitability."],"pmcid":["PMC11245157"],"funding_grant_id":["616441,713652","616441","451-03-66/2024-03/200042","RC 2019 – ERANET NEURON RRC-2019-2366750 - ALTRUISM,AUTISYN","/","713652"],"pubmed_authors":["Matteoli M","Pozzi D","Franchini AV","Fabris S","Aprile D","Mirabella F","Biunno I","Nadif Kasri N","Noberini R","Liu Y","Vitriolo A","Skaros A","D'Agostino G","Trattaro S","Caporale N","Bonaldi T","Mihailovich M","Germain PL","Ciptasari U","Ricciardi S","Tenderini E","Neri A","Capocefalo D","Troglio F","Shyti R","Aebersold R","Testa G","Rigoli MT"],"additional_accession":[]},"is_claimable":false,"name":"Multiscale modeling uncovers 7q11.23 copy number variation-dependent changes in ribosomal biogenesis and neuronal maturation and excitability.","description":"Copy number variation (CNV) at 7q11.23 causes Williams-Beuren syndrome (WBS) and 7q microduplication syndrome (7Dup), neurodevelopmental disorders (NDDs) featuring intellectual disability accompanied by symmetrically opposite neurocognitive features. Although significant progress has been made in understanding the molecular mechanisms underlying 7q11.23-related pathophysiology, the propagation of CNV dosage across gene expression layers and their interplay remains elusive. Here we uncovered 7q11.23 dosage-dependent symmetrically opposite dynamics in neuronal differentiation and intrinsic excitability. By integrating transcriptomics, translatomics, and proteomics of patient-derived and isogenic induced neurons, we found that genes related to neuronal transmission follow 7q11.23 dosage and a","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Jul","modification":"2026-07-15T08:07:30.18Z","creation":"2025-02-19T02:34:53.964Z"},"accession":"S-EPMC11245157","cross_references":{"pubmed":["39007270"],"doi":["10.1172/JCI168982"]}}