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Browsing Productos ANID by Subject "22q11 deletion syndrome"
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Publication Abnormal nodal and global network organization in resting state functional MRI from subjects with the 22q11 deletion syndrome(2021) ;Teuntje A. D. Pelgrim ;Matthijs G. Bossong ;Analía Cuiza ;Luz María Alliende ;Carlos Mena ;Angeles Tepper ;Juan Pablo Ramirez-Mahaluf ;Barbara Iruretagoyena ;Claudia Ornstein ;Rosemarie Fritsch ;Juan Pablo Cruz ;Cristian Tejos; Nicolas CrossleyAbstractThe 22q11 deletion syndrome is a genetic disorder associated with a high risk of developing psychosis, and is therefore considered a neurodevelopmental model for studying the pathogenesis of schizophrenia. Studies have shown that localized abnormal functional brain connectivity is present in 22q11 deletion syndrome like in schizophrenia. However, it is less clear whether these abnormal cortical interactions lead to global or regional network disorganization as seen in schizophrenia. We analyzed from a graph-theory perspective fMRI data from 40 22q11 deletion syndrome patients and 67 healthy controls, and reconstructed functional networks from 105 brain regions. Between-group differences were examined by evaluating edge-wise strength and graph theoretical metrics of local (weighted degree, nodal efficiency, nodal local efficiency) and global topological properties (modularity, local and global efficiency). Connectivity strength was globally reduced in patients, driven by a large network comprising 147 reduced connections. The 22q11 deletion syndrome network presented with abnormal local topological properties, with decreased local efficiency and reductions in weighted degree particularly in hub nodes. We found evidence for abnormal integration but intact segregation of the 22q11 deletion syndrome network. Results suggest that 22q11 deletion syndrome patients present with similar aberrant local network organization as seen in schizophrenia, and this network configuration might represent a vulnerability factor to psychosis.Scopus© Citations 2 1 - Some of the metrics are blocked by yourconsent settings
Publication Systems Analysis of the 22q11.2 Microdeletion Syndrome Converges on a Mitochondrial Interactome Necessary for Synapse Function and Behavior(2019) ;Avanti Gokhale ;Cortnie Hartwig ;Amanda A. H. Freeman ;Julia L. Bassell ;Stephanie A. Zlatic ;Christie Sapp Savas ;Trishna Vadlamudi ;Farida Abudulai ;Tyler T. Pham ;Amanda Crocker ;Erica Werner ;Zhexing Wen; ;Joseph A. Gogos ;Steven M. Claypool ;Jennifer K. Forsyth ;Carrie E. Bearden ;Jill Glausier ;David A. Lewis ;Nicholas T. Seyfried ;Jennifer Q. KwongVictor FaundezScopus© Citations 36 40
