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Series GSE120061 Query DataSets for GSE120061
Status Public on Sep 14, 2020
Title Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype
Organism Rattus norvegicus
Experiment type Expression profiling by high throughput sequencing
Summary Pathogenic mutations in either one of the epigenetic modifiers EHMT1, MBD5, MLL3, or SMARCB1 have been identified to be causative for Kleefstra syndrome spectrum (KSS), a neurodevelopmental disorder with clinical features of both intellectual disability (ID) and autism spectrum disorder (ASD). To understand how these variants lead to the phenotypic convergence in KSS, we employ a loss-of-function approach to assess neuronal network development at the molecular, single-cell, and network activity level. KSS-gene-deficient neuronal networks all develop into hyperactive networks with altered network organization and excitatory-inhibitory balance. Interestingly, even though transcriptional data reveal distinct regulatory mechanisms, KSS target genes share similar functions in regulating neuronal excitability and synaptic function, several of which are associated with ID and ASD. Our results show that KSS genes mainly converge at the level of neuronal network communication, providing insights into the pathophysiology of KSS and phenotypically congruent disorders.
Overall design Gene expression analysis in cotrtical neurons in which Kleeftrsa syndome genes have been downregulated
Contributor(s) Kasri NN, Zhou H
Citation(s) 31914384
Submission date Sep 17, 2018
Last update date Jun 14, 2022
Contact name Jo Huiqing Zhou
Organization name Radboud University
Street address Geert Grooteplein 26/28
City Nijmegen
ZIP/Postal code 6525GA
Country Netherlands
Platforms (1)
GPL20084 Illumina NextSeq 500 (Rattus norvegicus)
Samples (5)
GSM3392705 RNAseq control
GSM3392706 RNAseq Ehmt1 shRNA
GSM3392707 RNAseq Smarcb1 shRNA
BioProject PRJNA491497
SRA SRP161926

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Supplementary file Size Download File type/resource
GSE120061_GFP_vs_Ehmt1.txt.gz 789.7 Kb (ftp)(http) TXT
GSE120061_GFP_vs_Mbd5.txt.gz 819.8 Kb (ftp)(http) TXT
GSE120061_GFP_vs_Mll3.txt.gz 818.3 Kb (ftp)(http) TXT
GSE120061_GFP_vs_Smarcb1.txt.gz 814.5 Kb (ftp)(http) TXT
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