Multiscale modeling uncovers 7q11.23 copy number variation–dependent changes in ribosomal biogenesis...
Multiscale modeling uncovers 7q11.23 copy number variation–dependent changes in ribosomal biogenesis and neuronal maturation and excitability
About this item
Full title
Author / Creator
Mihailovich, Marija , Germain, Pierre-Luc , Shyti, Reinald , Pozzi, Davide , Noberini, Roberta , Liu, Yansheng , Aprile, Davide , Tenderini, Erika , Troglio, Flavia , Trattaro, Sebastiano , Fabris, Sonia , Ciptasari, Ummi , Rigoli, Marco Tullio , Caporale, Nicolò , D’Agostino, Giuseppe , Mirabella, Filippo , Vitriolo, Alessandro , Capocefalo, Daniele , Skaros, Adrianos , Franchini, Agnese Virginia , Ricciardi, Sara , Biunno, Ida , Neri, Antonino , Nadif Kasri, Nael , Bonaldi, Tiziana , Aebersold, Rudolf , Matteoli, Michela and Testa, Giuseppe
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
Formats
Publication information
Publisher
United States: American Society for Clinical Investigation
Subjects
More information
Scope and Contents
Contents
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 7q...
Alternative Titles
Full title
Multiscale modeling uncovers 7q11.23 copy number variation–dependent changes in ribosomal biogenesis and neuronal maturation and excitability
Authors, Artists and Contributors
Author / Creator
Germain, Pierre-Luc
Shyti, Reinald
Pozzi, Davide
Noberini, Roberta
Liu, Yansheng
Aprile, Davide
Tenderini, Erika
Troglio, Flavia
Trattaro, Sebastiano
Fabris, Sonia
Ciptasari, Ummi
Rigoli, Marco Tullio
Caporale, Nicolò
D’Agostino, Giuseppe
Mirabella, Filippo
Vitriolo, Alessandro
Capocefalo, Daniele
Skaros, Adrianos
Franchini, Agnese Virginia
Ricciardi, Sara
Biunno, Ida
Neri, Antonino
Nadif Kasri, Nael
Bonaldi, Tiziana
Aebersold, Rudolf
Matteoli, Michela
Testa, Giuseppe
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11245157
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11245157
Other Identifiers
ISSN
1558-8238,0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI168982
