Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

CRISPR activation for SCN2A-related neurodevelopmental disorders

ABSTRACT: CRISPR activation for SCN2A-related neurodevelopmental disorders

PROVIDER: PRJNA796834 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	SRR17600920_1.fastq.gz	Fastqsanger.gz
	SRR17600920_2.fastq.gz	Fastqsanger.gz
	SRR17600921_1.fastq.gz	Fastqsanger.gz
	SRR17600921_2.fastq.gz	Fastqsanger.gz
	SRR17600922_1.fastq.gz	Fastqsanger.gz

Items per page:

1 - 5 of 16

Similar Datasets

CRISPR activation for SCN2A-related neurodevelopmental disorders

Project description:CRISPR activation for SCN2A-related neurodevelopmental disorders

| PRJNA1292778 | ENA

CRISPR activation for SCN2A-related neurodevelopmental disorders

Project description:Here, we are measuring mRNA expression of CRISPRa targeting the promoter of mouse Scn2a in Neuro2a cells and in Mice.

2025-07-17 | GSE302897 | GEO

CRISPR activation for SCN2A-related neurodevelopmental disorders

Project description:Here we are testing the effects and measuring mRNA expression of CRISPRa targeting the promoter of mouse Scn2a in Neuro2a cells

2022-04-01 | GSE193605 | GEO

Presynaptic dysfunction in CASK-related neurodevelopmental disorders

Project description:Presynaptic dysfunction in CASK-related neurodevelopmental disorders

| PRJNA590196 | ENA

Presynaptic dysfunction in CASK-related neurodevelopmental disorders

Project description:CASK-related disorders are a growing group of genetic neurodevelopmental syndromes. There is limited information about the effects of CASK mutations in human neurons. Therefore, we sought to delineate CASK mutation consequences and neuronal level effects using induced pluripotent stem cell-derived neurons from two mutation carriers; one male diagnosed with ASD and a female with MICPCH. We show a reduction of the CASK protein in maturing neurons from the mutation carriers, which leads to significant downregulation of gene sets involved in presynaptic development and CASK protein interactors. Furthermore, CASK-deficient neurons showed decreased inhibitory presynapse size as indicated by VGAT stainings, which may alter E/I balance in developing neural circuitries. Using in vivo magnetic resonance spectroscopy quantification of GABA in the male mutation carrier, we further highlight the possibility to validate in vitro cellular data in brain. Our data shows that future pharmacological and clinical studies on targeting presynapses and E/I imbalance could lead to specific treatments for CASK-related disorders.

2020-07-27 | GSE140572 | GEO

Gene dosage imbalance in neurodevelopmental disorders

Project description:Gene dosage imbalance in neurodevelopmental disorders

| PRJNA287736 | 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

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

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

2024-04-15 | E-MTAB-13477 | biostudies-arrayexpress

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

Project description:GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders Organoid SC

2024-06-27 | E-MTAB-13478 | biostudies-arrayexpress

Array-CGH in a boy with an occurrence of neurodevelopmental disorders and epilepsy

Project description:This analysis includes the whole-genome screening of unbalanced chromosomal rearrangements (copy-number variants; CNV) in a boy with neurodevelopmental disorders and epilepsy.

2020-01-31 | E-MTAB-8147 | biostudies-arrayexpress