Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Integrated Genomic Analysis of a Stem Cell Model of Overgrowth Syndrome with Intellectual Disability (WGBS)

ABSTRACT: Integrated Genomic Analysis of a Stem Cell Model of Overgrowth Syndrome with Intellectual Disability (WGBS)

PROVIDER: PRJNA478442 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	SRR7450670_1.fastq.gz	Fastqsanger.gz
	SRR7450670_2.fastq.gz	Fastqsanger.gz
	SRR7450680_1.fastq.gz	Fastqsanger.gz
	SRR7450680_2.fastq.gz	Fastqsanger.gz
	SRR7450671_1.fastq.gz	Fastqsanger.gz

Items per page:

1 - 5 of 36

Similar Datasets

Integrated Genomic Analysis of a Stem Cell Model of Overgrowth Syndrome with Intellectual Disability (WGBS)

Project description:We profiled genome-wide DNA methylation, H3K27me3 histone modification, and gene transcription in embryonic stem cell-derived neural stem cells harboring mutations in Dnmt3a associated with overgrowth syndrome with intellectual disability.

2020-06-27 | GSE116420 | GEO

NONO mutations cause syndromic intellectual disability and inhibitory synaptic defects

Project description:Identifying causes of sporadic intellectual disability remains a considerable medical challenge. Here, we demonstrate that null mutations in the NONO gene, a member of the Drosophila Behavior Human Splicing (DBHS) protein family, are a novel cause of X-linked syndromic intellectual disability. Comparing humans to Nono-deficient mice revealed related behavioral and craniofacial anomalies, as well as global transcriptional dysregulation. Nono-deficient mice also showed deregulation of a large number of synaptic transcripts, causing a disorganization of inhibitory synapses, with impaired postsynaptic scaffolding of gephyrin. Alteration of gephyrin clustering could be rescued by over-expression of Gabra2 in NONO-compromised neurons. These findings link NONO to intellectual disability and first highlight the key role of DBHS proteins in functional organization of GABAergic synapses.

2015-09-02 | E-MTAB-2895 | biostudies-arrayexpress

NONO mutations cause syndromic intellectual disability and inhibitory synaptic defects

2015-09-02 | E-MTAB-2894 | biostudies-arrayexpress

10 Intellectual Disability samples for clinically relevant CNV detection

Project description:10 patients with Intellectual Disability diagnosed with a clinically relevant copy number change, selected to assess the dection performance of alternative platforms.

2013-08-01 | GSE46060 | GEO

10 Intellectual Disability samples for clinically relevant CNV detection

Project description:10 patients with Intellectual Disability diagnosed with a clinically relevant copy number change, selected to assess the dection performance of alternative platforms. 10 Affymetrix arrays were performed according to the manufacturer's directions on DNA extracted from peripheral blood samples.

2013-08-01 | E-GEOD-46060 | biostudies-arrayexpress

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability.

Project description:Intellectual disability is a common condition that carries lifelong severe medical and developmental consequences. The causes of intellectual disability (ID) remain unknown for the majority of patients due to the extensive clinical and genetic heterogeneity of this disorder. De novo mutations may play an important role in ID as most individuals with ID present as isolated cases without family history and/or clear syndromic indication. In addition, the involvement of such mutations have recently been demonstrated in a small number of individuals with ID. Here we evaluate the diagnostic potential and role of de novo mutations in a cohort of 100 patients with ID of unknown cause using family-based exome sequencing. Single end short-read (50 bp) SOLiD 4 sequencing data for 300 individuals, constituting 100 patient-parent trios. For more details please read; http://www.nejm.org/doi/full/10.1056/NEJMoa1206524. Dataset is created by RUNMC (Radboud University, Nijmegen Medical Center), partner of Geuvadis consortium (http://www.geuvadis.org).

2013-11-06 | E-GEUV-5 | biostudies-arrayexpress

Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery

Project description:Intellectual disability (ID) is a clinically important disease and a most prevalent neurodevelopmental disorder. The etiology and pathogenesis of ID are poorly recognized. Exome sequencing revealed a homozygous missense mutation in the POLR3B gene in a consanguineous family with three Intellectual disability with craniofacal anomalies patients. POLR3B gene encoding the second largest subunit of RNA polymerase III. To explore how genetic variants alter cell expression in ID patients, RNA sequencing on blood samples was performed and to obtain insights into the biological pathways influenced by POLR3B mutation, we applied our RNA-Seq data to several gene ontology programs such as ToppGene, Enrichr, KEGG. We detected a significant decrease expression of several spliceosomal RNAs, ribosomal proteins and transcription factors in our ID patients. We hypothesize that POLR3B mutation dysregulates the expression of some important transcription factors, ribosomal and spliceosomal genes and impairments in protein synthesis and splicing mediated in part by transcription factors such as FOXC2, GATA1, .. contribute to impaired neuronal function and concurrence of intellectual disability and craniofacial anomalies in our patients. Our study highlights the emerging role of spliceosome and ribosomal proteins in intellectual disability.

2022-04-27 | GSE184234 | GEO

Detection of CNVs in patients with syndromic intellectual disability

Project description:Detection of CNVs in patients with syndromic intellectual disability

| PRJNA616272 | ENA

SNP arrays to confirm X-linkage in a family with idiopathic intellectual disability

Project description:L061 family with idiopathic non-syndromic intellectual disability remained unsolved after targeted screening of ID-related genes, array-CGH and exome sequencing. In order to perform custom tandem repeat screening on the X chromosome by long read single molecule sequencing, X-linkage needed to be confirmed by SNP arrays.

2017-12-01 | E-MTAB-5903 | biostudies-arrayexpress

Altered gene-regulatory function of KDM5C by a novel mutation associated with autism and intellectual disability

Project description:We describe a new variant in histone demethylase KDM5C in a male with autism and intellectual disability

2018-04-18 | GSE104319 | GEO