Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Symmetrical dose-dependent DNA methylation profiles in children with deletion or duplication of chromosome 7q11.23

ABSTRACT: Genome wide DNA methylation in blood derived DNA from individuals with deletion or duplication of 7q11.23

ORGANISM(S): Homo sapiens

PROVIDER: GSE66552 | GEO | 2015/07/09

SECONDARY ACCESSION(S): PRJNA277311

REPOSITORIES: GEO

ACCESS DATA

Json Xml

Similar Datasets

Symmetrical dose-dependent DNA methylation profiles in children with deletion or duplication of chromosome 7q11.23

Project description:Genome wide DNA methylation in blood derived DNA from individuals with deletion or duplication of 7q11.23 Bisulfite converted DNA was hybridized onto the Illumina Infinium HumanMethylation450 BeadChip array

2015-07-09 | E-GEOD-66552 | biostudies-arrayexpress

Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23.

Project description: Not available

| S-EPMC4573259 | biostudies-literature

GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders

Project description:Copy number variations at 7q11.23 cause neurodevelopmental disorders with shared and opposite manifestations. Deletion leads to Williams-Beuren syndrome (WBS), while duplication causes 7q11.23 microduplication syndrome (7Dup). Converging evidence indicates GTF2I, from the 7q11.23 locus, is a key mediator of the cognitive-behavioral phenotypes associated with WBS and 7Dup. Here we integrate molecular profiling of patient-derived cortical organoids (COs) and transgenic mouse models to dissect 7q11.23 disease mechanisms. Proteomic and transcriptomic profiling of COs revealed opposite dynamics of neural progenitor proliferation and transcriptional imbalances, leading to precocious excitatory neuron production in 7Dup. The accelerated excitatory neuron production in 7Dup COs could be rescued by GTF2I knockdown. Transgenic mice with Gtf2i duplication recapitulated early neuronal differentiation defects and ASD-like behaviors. Remarkably, inhibition of LSD1, a downstream effector of GTF2I, was sufficient to rescue ASD-like phenotypes. We propose that the GTF2I-LSD1 axis constitutes a molecular pathway amenable to therapeutic intervention.

2024-01-26 | PXD036770 | Pride

Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.

Project description: Not available

| S-EPMC3838485 | biostudies-literature

7q11.23 CNV alters ribosomal biogenesis, mTOR and neuronal intrinsic excitability [RNA-seq]

Project description:Copy number variations (CNVs) at 7q11.23 cause Williams-Beuren (WBS) and 7q microduplication syndromes (7Dup). Both neurodevelopmental disorders (NDDs) feature mild to moderate intellectual disability, accompanied by symmetrically opposite neurocognitive and behavioral features. Although significant progress has been made in understanding the molecular mechanisms underlying 7q11.23-related pathophysiologies, the interplay between different layers of gene expression and the propagation of opposite symmetry arising from CNV 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 are transcriptionally controlled, while translational factors and ribosomal genes are post-transcriptionally buffered. Consistently, we found a deregulated mTOR pathway, with phospho-S6 (pS6) being downregulated in WBS and upregulated in 7Dup. Surprisingly phospho-4E-BP (p4E-BP) was going in the opposite direction, reflecting the total 4E-BP levels, thus highlighting the different roles of pS6 and p4E-BP during neurogenesis. Therefore, our work emphasizes the importance of multilayer research when investigating complex NDDs, highlighting ribosomal biogenesis and paving the way for novel treatments by uncoupling the role of pS6 and p4E-BPs in NDDs.

2024-03-20 | GSE261691 | GEO

7q11.23 CNV alters ribosomal biogenesis, mTOR and neuronal intrinsic excitability [ribosome footprinting]

2024-03-20 | GSE261690 | GEO

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

Project description: Not available

| S-EPMC2443840 | biostudies-literature

Drosophila Duplication 20091218

Project description:Drosophila Duplication 20091218

| PRJNA122357 | ENA

Malawi Duplication 20091207

Project description:Malawi Duplication 20091207

| PRJNA120409 | ENA

GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders Mice

Project description:Mice experiment for GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders

2024-03-28 | E-MTAB-13475 | biostudies-arrayexpress

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data