Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Impact of G167R mutation in CHUK gene, coding for IKKα protein, on gene expression in PBMCs

ABSTRACT: Impact of G167R mutation in CHUK gene, coding for IKKα protein, on gene expression in PBMCs

PROVIDER: PRJNA1080009 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	SRR28083124_1.fastq.gz	Fastqsanger.gz
	SRR28083124_2.fastq.gz	Fastqsanger.gz
	SRR28083125_1.fastq.gz	Fastqsanger.gz
	SRR28083125_2.fastq.gz	Fastqsanger.gz

Items per page:

1 - 4 of 4

Similar Datasets

Impact of G167R mutation in CHUK gene, coding for IKKα protein, on gene expression in PBMCs

Project description:IKKα is a critical regulator of the non-canonical NF-KB signalling pathway. In patients with combined immunodeficiency, we identified a homozygous missense mutation in CHUK gene, coding for IKKα protein, leading to G167R amino acid change in the kinase domain of the protein. This mutation impairs the kinase activity of IKKα, which results in a range of aberratins in innate and adaptive immunity.

2024-10-09 | GSE256535 | GEO

Effect of R22W mutation in TFRC gene on gene expression in PBMCs

Project description:Effect of R22W mutation in TFRC gene on gene expression in PBMCs

| PRJNA1017458 | ENA

Transcriptome analysis of PBMCs from patients with STAT1 activating mutation

Project description:The transcriptome of peripheral blood cells (PBMCs) from control or patients with an activation mutation on the STAT1 gene was analyzed. This analysis aimed to identify the major changes in the circulating immune cells of patients with STAT1 mutation and compare this with the result of the perturbation prediction tool huva (human variation, R). PBMCs were prepared by density centrifugation and cultured ex vivo for 4 hours in RPMI prior to total RNA extraction.

| EGAS00001005041 | EGA

Evaluation of RAS gene status in circulating tumor DNA for colorectal cancer patients with RASg gene mutation

Project description:Primary outcome(s): the allele frequency of RAS gene mutation in circulating tumor DNA

| 2653459 | ecrin-mdr-crc

Effect of R22W mutation in TFRC gene on gene expression in PBMCs

Project description:TFRC, also known as CD71, regulates the uptake of transferrin-bound iron into cells through receptor-mediated endocytosis. In a patient with a combined immunodeficiency, we identified a homozygous missense mutation in TFRC gene leading to R22W amino acid change in the cytoplasmic tail of the receptor. This mutation impairs the endocytosis of TFRC, which results in profound aberrations in the immune system.

2024-01-31 | GSE243237 | GEO

Sen2020 - Metabolic alteration in PBMCs associated with type 1 diabetes

Project description:Genome-Scale draft model for Human Peripheral Blood Mononuclear Cells (PBMCs). A GEM for PBMCs was developed by applying the INIT algorithm on Human Metabolic Reconstruction (HMR 2.0) as a template model. GEMs were contextualised/ constrained for different conditions using expression datasets. The gene/transcript expression data obtained from PBMCs of Type 1 Diabetes progressors, non-progressors, and healthy controls were employed to score each reaction of HMR 2.0. For further detail please refer to Electronic Supplementary Information of Sen et.al, Metabolic alterations in immune cells associate with progression to type 1 diabetes, Diabetologia, 15/01/2020, (https://doi.org/10.1007/s00125-020-05107-6).

2020-03-11 | MODEL1905270001 | BioModels

A non-coding mutation implicates HCFC1 in non-syndromic intellectual disability

Project description:Human disease mutation discovery has so far been biased towards protein coding regions. Having excluded all annotated coding regions, we performed targeted massively parallel re-sequencing of the non-repetitive genomic linkage interval of the MRX3 family at Xq28. We identified a regulatory mutation in the YY1 transcription factor binding site, which leads to overexpression of the chromatin-associated transcriptional regulator, HCFC1. When tested on embryonic murine neural stem cells (NSCs) and embryonic hippocampal neurons, HCFC1 overexpression led to a significant increase of the production of astrocytes and considerable reduction in neurite growth. Two other non-synonymous, potentially deleterious changes have been identified by X-exome sequencing in individuals with intellectual disability, implicating HCFC1 in normal brain function. Total RNA was extracted from LCL derived from four unrelated male controls, five unrelated female controls and two affected male cousins from the MRX3 family.

2012-09-01 | E-GEOD-39326 | biostudies-arrayexpress

A non-coding mutation implicates HCFC1 in non-syndromic intellectual disability

2012-09-01 | GSE39326 | GEO

Comprehensive RNA-Seq profiling in PBMCs of ALS patients and healthy controls

Project description:Coding and long non-coding RNA metabolism is now revealing its crucial role in Amyotrophic Lateral Sclerosis (ALS) pathogenesis. In this work, we performed Illumina RNA-seq analysis on Peripheral Blood Mononuclear Cells (PBMCs) from Sporadic and mutated ALS patients (mutations in FUS, TARDBP, SOD1, C9Orf72 and VCP genes) and healthy controls. Our aim is the whole-transcriptome characterization of PBMCs content, both in terms of coding and non coding RNAs, in order to compare the disease state to the healthy controls, both for sporadic patients and for mutated patients. Out dataset is a starting point for the omni-comprehensive analysis of coding and long non coding RNAs, from an easy to withdraw, manage and store tissue that shows to be a suitable model for RNA profiling in ALS.

2018-07-04 | GSE115259 | GEO

Gene expression analysis of yeast strains with a nonsense mutation in the eRF3-coding gene highlights possible mechanisms of adaptation

Project description:Gene expression analysis of yeast strains with a nonsense mutation in the eRF3-coding gene highlights possible mechanisms of adaptation

| PRJNA1113596 | ENA

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

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