Homo sapiens
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA152581 | ENA |
REPOSITORIES: ENA
Dataset's files
| Action | DRS | |||
|---|---|---|---|---|
| SRR403021.fastq.gz | Fastqsanger.gz | |||
| SRR403022.fastq.gz | Fastqsanger.gz |
Items per page: 5 1 - 2 of 2 |
Similar Datasets
Project description:Nonsense-mediated mRNA decay (NMD) functions to degrade transcripts bearing premature stop codon (PTC) and is a crucial regulator of gene expression. NMD and the UPF3B gene have been implicated as the cause of various forms of intellectual disability (ID) and other neurological symptoms. Here, we reports three patients with global developmental delay carrying hemizygous deletions of the UPF2 gene, another important member of the NMD pathway and direct interacting partner of UPF3B. Using RNA-SEQ on lymphoblastoid cells from UPF2 deletion patients, we identified 1009 differently expressed genes (DEGs). 38% of these DEGs overlapped with DEGs identified in UPF3B patients. More importantly, 95% of all DEGs in either UPF2 or UPF3B patients share the same trend of de-regulation. This demonstrates that the transcriptome deregulation in these two patient groups is similar and that UPF2 should be considered as a new candidate gene for ID in man. We expanded our inq`uiries and performed a comprehensive search for copy number variations (CNVs) encompassing all NMD genes in cohorts of ID patients and controls. We found that UPF2, UPF3A, Y14, SMG6 and EIF4A3 are frequently deleted and/or duplicated in ID patients. These CNVs are likely to be the root of the problems or to act as predisposing factors. Our results suggest that dosage imbalance of NMD factors is associated with ID and further emphasize the importance of NMD in normal learning and memory processes.
2012-12-31 | E-GEOD-35420 | biostudies-arrayexpress
Project description:Down syndrome (DS) results from trisomy of chromosome 21 and is the most common genetic cause of intellectual disability (ID). A wide range of comorbidities have been described in DS, such as ID, muscle weakness, hypotonia, congenital heart disease and autoimmune diseases. The pathogenetic mechanisms that are responsible for developing these comorbidities are still far from being understood. It was hypothesized that dosage imbalance on chromosome 21 as a whole disrupts diverse developmental pathways whereas another hypothesis suggests that dosage increase for specific genes on chromosome 21 contributes directly to different aspects of the phenotype in DS. The present study explored mRNAs and lncRNAs expression by using the next generation sequencing analysis (NGS) and the quantitative real-time PCR (qRT-PCR) assay for the confirmation of the NGS results, followed by functional analysis of the results. The enrichment analysis of the results obtained revealed various pathways in which differentially expressed genes are involved. Developmental disorders play a crucial role in the phenotype of people with Down syndrome with particular attention to intellectual developmental disorders.
2021-06-28 | E-MTAB-10604 | biostudies-arrayexpress
Project description:Targetted Microarray Testing for Intellectual Disability Provides Diagnoses and Identifies Novel Candidate Genes
| PRJNA171134 | ENA
Project description:Gene dosage imbalance in neurodevelopmental disorders
| PRJNA287737 | ENA
Project description:Nonsense-mediated mRNA decay (NMD) functions to degrade transcripts bearing premature stop codon (PTC) and is a crucial regulator of gene expression. NMD and the UPF3B gene have been implicated as the cause of various forms of intellectual disability (ID) and other neurological symptoms. Here, we reports three patients with global developmental delay carrying hemizygous deletions of the UPF2 gene, another important member of the NMD pathway and direct interacting partner of UPF3B.
2012-12-31 | GSE35420 | GEO
Project description:Intellectual disability and mood disorder associated with partial deletion of the Neurexin 1 Gene
| PRJNA131449 | ENA
Project description:10 Intellectual Disability samples for clinically relevant CNV detection
| PRJNA197143 | ENA
Project description:RNA extracted at 240min. Samples are rRNA depleted. Expression measurement of Homo sapiens genes.
2019-07-31 | GSE114179 | GEO
Project description:Mutations in GRIN2B are associated with intellectual disability in humans. We generated iPSC derived mature cortical neurons with mutations in GRIN2B and compared them to isogenic control cells. We found that both loss of function (LOF) and reduced dosage (RD) mutations in GRIN2B lead to reduced expression of NMDAR genes and increased expression of marker of immaturity, including KI67 and MET.
2018-05-21 | GSE114685 | GEO
Project description:A non-coding mutation implicates HCFC1 in non-syndromic intellectual disability
| PRJNA170615 | ENA