Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

ABSTRACT: T-cell receptor repertoire alterations drive pathological gut immunological and microbial signatures in humans and mice with hypomorphic RAG deficiency

PROVIDER: PRJNA1159340 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	SRR30633800_1.fastq.gz	Fastqsanger.gz
	SRR30633800_2.fastq.gz	Fastqsanger.gz
	SRR30633801.fastq.gz	Fastqsanger.gz
	SRR30633802.fastq.gz	Fastqsanger.gz
	SRR30633803.fastq.gz	Fastqsanger.gz

Items per page:

1 - 5 of 223

Similar Datasets

T-cell receptor repertoire alterations drive pathological gut immunological and microbial signatures in humans and mice with hypomorphic RAG deficiency

Project description:T-cell receptor repertoire alterations drive pathological gut immunological and microbial signatures in humans and mice with hypomorphic RAG deficiency

| PRJNA1160874 | ENA

T-cell receptor repertoire alterations drive pathological gut immunological and microbial signatures in humans and mice with hypomorphic RAG deficiency

Project description:Mechanistic knowledge about the homeostatic interplay between T cell-mediated immunity and gut microbiota is still limited. We aimed to investigate how restriction of the T-cell receptor (TCR) repertoire (VDJ region) may influence gut microbiota composition, causing tissue inflammation and disruption of peripheral immune tolerance. Based on the clinical observation of colonic inflammation in patients with partial RAG deficiency (pRD), we applied a multi-omics strategy to study a mouse model of hypomorphic Rag1 deficiency (Rag1 mutant mice) with spontaneous development of colitis.

2025-04-09 | GSE277151 | GEO

Project description:BCR and TCR repertoire diversity in hypomorphic RAG deficient patients 2021

| PRJNA746291 | ENA

Multi-omics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature

Project description:A multi-omics approach has revealed both common and distinctive cellular and molecular signatures of inflammation and immune dysregulation that characterize distinct phenotypes of human RAG deficiency.

2024-12-10 | GSE274284 | GEO

Homo sapiens

Project description:Partial RAG deficiency in humans favors expansion of autoreactive B cells with extrafollicular fate

| PRJNA739649 | ENA

The atlas of the human hypertrophied heart reveals impaired cell communication

Project description:Pathological cardiac hypertrophy is a leading cause of heart failure. The understanding of disease mechanisms is primarily based on experimental models, but knowledge of the full repertoire of cardiac cells and their gene expression profiles in the human heart is missing. Here, using large-scale single-nucleus transcriptomes, we highlight the transcriptional response of cardiomyocytes to pressure overload in humans with stenosis of the aortic valve and disclose major alterations in cellular cross-talk. Cardiomyocytes showed a reduction of incoming connections with endothelial cells and fibroblasts. Particularly Eph receptor tyrosine kinases, including the predominant EPHB1 gene, were significantly down-regulated in cardiomyocytes of the hypertrophied heart. We compared 5 AS patients to healthy patients from the human heart cell ATLAS (https://www.heartcellatlas.org). This repository contains the processed files from the single nuclei RNA-SEQ.

2021-12-06 | E-MTAB-11268 | biostudies-arrayexpress

TR accompanied with the study titled A multicenter phase II study of Nivolumab monotherapy in recurrent and/or metastatic gastrointestinal cancer patients with high Tumor Mutation Burden (TMB-H).

Project description:Primary outcome(s): 1. Evaluation of genome abnormality and gene expression by omics analysis of tumor etc. 2. TCR repertoire analysis and RNA expression analysis etc. of T cells in tumor tissue and peripheral blood. 3. Prediction and identification of tumor neo-antigen and evaluation of immunogenicity etc. 4. Analyze ctDNA(16S rRNA PCR) and feces of patients with advanced solid malignancies over time to profile and monitor cancer-related genomic alterations 5. Assessment of the relationship between the analysis above and clinical pathological features or therapeutic efficacy etc.

| 2648665 | ecrin-mdr-crc

Retinas from the Pex1-G844D mouse model of Zellweger spectrum disorder

Project description:Gene expression analysis of retinas from a mouse model of the mild form of Zellweger spectrum disorder (ZSD). Mice homozygous for the hypomorphic Pex1-G844D allele, the murine ortholog of the human PEX1-G843D mutation found in a subset of patients with autosomal recessive ZSD, develop phenotypes found in humans with a milder form of ZSD, including retinal degeneration and vision loss. Similar to humans, mice heterozygous for the hypomorphic Pex1-G844D allele do not display age-related retinal abnormalities. We conducted a comparative analysis of retinal gene expression profile from Pex1-G844D homozygous and heterozygous mice in order to investigate the pathomechanisms of vision loss in humans with mild forms of ZSD. Whole retinas were obtained from 4 mice homozygous and 4 mice heterozygous for the hypomorphic Pex1-G844D allele, the murine ortholog of the human PEX1-G843D mutation found in a subset of patients with autosomal recessive Zellweger spectrum disorder (ZSD). The former group of animals show abnormal age-related related retinal degeneration due to peroxisome assembly defect resulting from having two copies of the hypomorphic Pex1-G844D allele. The latter group of animals display no evidence of abnormal age-related retinal degeneration due to the presence of one wild type copy of the Pex1 gene. The overall goal was to identify differentially expressed genes between mice homozygous and heterozygous for the hypomorphic Pex1-G844D allele that are informative of the pathomechanisms of age-related retinal degeneration in the former group.

2013-12-15 | E-GEOD-52348 | biostudies-arrayexpress

SILAC-Based Quantification of TGFBR2-Dependent Protein Expression in Extracellular Vesicles of Microsatellite Unstable Colorectal Cancers

Project description:Microsatellite unstable (MSI) colorectal cancers (CRCs) are characterized by Transforming Growth Factor Beta Receptor Type 2 (TGFBR2) deficiency. TGFBR2-deficient CRCs present altered target gene and protein expression. Such cellular alterations modulate the content of CRC-derived extracellular vesicles (EVs). EVs function as couriers of proteins, nucleic acids, and lipids in intercellular communication. At a qualitative level, we have previously shown that TGFBR2 deficiency can cause overall alterations in the EV protein content. To deepen the basic understanding of altered protein dynamics, this work aimed to quantify EV protein signatures in a TGFBR2-dependent manner. Using a SILAC approach for mass spectrometry-based quantification, 48 proteins that appeared to be regulated by cellular TGFBR2 expression were identified in MSI-derived EVs. TGFBR2-primed EVs were enriched in proteasome-associated proteins, whereas TGFBR2 deficiency led to upregulation of EV proteins related to the extracellular matrix and nucleosome. Altogether, the present study emphasizes the general overlap of proteins between EVs and their parental CRC cells and highlights the pathological role of the MSI tumor driver mutation affecting TGFBR2 by altering protein landscapes of EVs. From a clinical perspective, TGFBR2-regulated quantitative differences of protein expression in EVs might nominate novel biomarkers for liquid biopsy-based MSI typing in the future.

2019-09-04 | PXD013980 | Pride

Project description:HSF5 deficiency in humans

| PRJNA1005465 | ENA