C25410b1-f0e7-4cda-86da-31a6cbf5bb82 - samples
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ABSTRACT:
PROVIDER: EGAD00001009062 | EGA |
REPOSITORIES: EGA
Similar Datasets
Project description:Cystic fibrosis (CF) is a genetic disorder affecting approximately 1 in 2,500 people in the UK. Here, we generated a number of high-throughput sequence data sets for monocytes and neutrophils from CF patients and matched healthy volunteers (HV); including ChIP-Seq (H3K27Ac), chromatin accessibility (ATAC-Seq), and transcript/gene expression (RNA-Seq) data. Analysis of gene expression and epigenetic profiles demonstrates a robust innate immune gene expression profile that distinguishes CF and HV during periods of disease exacerbation. Upregulation of pathways responsible for the production of proinflammatory cytokines is described.
| EGAS00001006421 | EGA
Project description:Genes dysregulated in cystic fibrosis (CF) and primary pulmonary arterial hypertension (PAH) at a late stage of pulmonary failure are still largely unknown. Blood samples taken in the frame of the French cohort of lung transplantation COLT offers the opportunity to identify in blood specific gene signatures of each disease and a common gene signature for both pathologies. A microarray analysis was performed with homogeneous groups of CF patients (n=23), PAH (n=13) patients and healthy volunteers (n=28). Blood was collected in a PAXgene® tube to maintain RNA integrity. Total extracted RNA were processed on 60K whole-genome microarrays (Agilent Technologies). Microarrays were analyzed by bioinformatics (GOminer and Ingenuity Pathway Analysis). Three major biological signatures were discovered including (1) genes specifically over-expressed in pPAH and mainly involved in inflammation, vascular remodeling and cell proliferation, (2) genes specifically over-expressed in CF involved in innate immune response and oxidative stress response, and (3) genes under-expressed in both diseases, including genes involved in transcriptional machinery, apoptosis and cell proliferation. RNAs were isolated from blood collected with PAXGene tubes from 13 patients diagnosed with primitive pulmonary arterial hypertension (PAH), 23 patients with cystic fibrosis (CF) and 28 healthy volunteers (HVs).
2014-12-09 | E-GEOD-38267 | biostudies-arrayexpress
Project description:Nasal epithelium (NE) is used as a surrogate for lower airway epithelium in cystic fibrosis (CF). However, NE is composed of diverse cell types with unique functions; changes to this heterogeneous tissue in disease can be cell-type specific. To explore the impact of tissue heterogeneity, we examine NE gene expression and cell-type heterogeneity using single-cell transcriptomics of people with CF (PwCF) and healthy volunteers (HV). We also compare cell-type abundance in paired single-cell and bulk transcriptomic samples.
2026-03-10 | GSE323136 | GEO
Project description:To identify genes relevant for cystic fibrosis pathophysiology, we profiled blood samples in CF patients and healthy controls using RNA-seq. Weighted Gene Co-expression Network Analysis of a transcriptomic dataset allowed us to identify 28 co-expressed modules that correlated with clinical traits of interest in cystic fibrosis.
2020-03-26 | GSE136371 | GEO
Project description:Genes dysregulated in cystic fibrosis (CF) and primary pulmonary arterial hypertension (PAH) at a late stage of pulmonary failure are still largely unknown. Blood samples taken in the frame of the French cohort of lung transplantation COLT offers the opportunity to identify in blood specific gene signatures of each disease and a common gene signature for both pathologies. A microarray analysis was performed with homogeneous groups of CF patients (n=23), PAH (n=13) patients and healthy volunteers (n=28). Blood was collected in a PAXgene® tube to maintain RNA integrity. Total extracted RNA were processed on 60K whole-genome microarrays (Agilent Technologies). Microarrays were analyzed by bioinformatics (GOminer and Ingenuity Pathway Analysis). Three major biological signatures were discovered including (1) genes specifically over-expressed in pPAH and mainly involved in inflammation, vascular remodeling and cell proliferation, (2) genes specifically over-expressed in CF involved in innate immune response and oxidative stress response, and (3) genes under-expressed in both diseases, including genes involved in transcriptional machinery, apoptosis and cell proliferation.
2014-12-09 | GSE38267 | GEO
Project description:The goal of this study was to examine changes in gene expression over time in healthy and cystic fibrosis (CF) human airway epithelia infected with RSV.
2023-11-08 | GSE247298 | GEO
Project description:This study performed single-cell RNA sequencing (scRNA-seq) analyses on peripheral blood neutrophils from cystic fibrosis (CF) patients and healthy controls (HC) in their native state and LPS-activated state. Differences in global gene transcription were interrogated and compared. Results demonstrate that CFTR loss of function in CF neutrophils led to abnormal immune programming, exemplified by precocious priming at their native state, and abnormal immune response to LPS.
2023-11-09 | GSE220658 | GEO
Project description:We have compared gene expression in human nasal brushing cells from 19 cystic fibrosis (CF) patients and 19 healthy controls using a 5.2K cDNA microarray. Our aim is to identify new disease biomarkers for the Cystic Fibrosis Gene Therapy Consortium. These markers will be used to report more effectively on the response to the administration of gene therapy in vivo. Cystic Fibrosis is a recessive genetic disease caused by mutations in the cystic fibrosis conductance regulator (CFTR) gene which encodes a chloride ion channel. The most common mutation is the ∆F508 mutation, present on 70% of CF chromosomes in Caucasian populations. The disease affects many organs in the body such as the pancreas, liver, sweat glands, small intestine and reproductive tracts but is most commonly associated with progressive, inflammatory lung disease. The current average life expectancy of CF patients is 35 years. Gene therapy is being developed as a treatment for CF airway disease, however, means of measuring the efficiency and efficacy of gene therapy in vivo are lacking. This is mainly due to the difficulty in measuring the chloride conductance of CFTR in cells and tissues. Furthermore, clinical assays for measuring improvements in lung function are insensitive. Surrogate markers of inflammation and CFTR function will therefore be important for the effective assessment of gene therapy in vivo. We have analysed gene expression in human nasal epithelium as this is considered an accessible surrogate for the conducting airways where disease manifests in the majority of patients. Additionally, this tissue will be sampled in clinical trials.
2011-04-30 | E-MEXP-436 | biostudies-arrayexpress
Project description:Cystic fibrosis (CF) remains a life-shortening disease without a definitive cure. Novel therapeutics targeting the causative defect in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are now in clinical use. Lumacaftor/ivacaftor is a CFTR modulator approved for patients homozygous for the CFTR mutation p.Phe508del, but there are wide variations in treatment responses preventing prediction of patient responses. We aimed to determine changes in gene expression related to treatment initiation and response. Whole-blood transcriptomics was performed using RNA-Seq in 20 patients with CF pre- and 6 months post-lumacaftor/ivacaftor (drug) initiation and 20 non-CF healthy controls. Correlation with clinical variables was performed by stratification via clinical responses. We identified 491 genes that were differentially expressed in CF patients (pre-drug) compared with non-CF controls. In addition, 36 genes were differentially expressed when comparing pre-drug to post-drug profiles within CF patients. Transcriptomics revealed novel pathways in CF patients at baseline compared to non-CF, and in clinical responders to lumacaftor/ivacaftor. Overall changes in gene expression post-lumacaftor/ivacaftor were modest compared to pre-drug CF profiles.
2019-01-03 | GSE124548 | GEO
Project description:Gene expression profiles were recorded from rectal suction specimens of Cystic Fibrosis (CF) patients, carrying the CF-specific D508 mutated CFTR-allele. These profiles were compared with gene expression profiles from rectal suction specimens of non-CF subjects (control). We used Affymetrix GeneChip HG-U133A microarrays to record the gene expression profile of 16 CF and 13 non-CF individuals. Rectal suction specimens representing rectal mucosal epithelia were collected from CF patients and non-CF individuals. Biopsies were analyzed for residual function using ICM and total RNA was isolation immediately using the Qiagen RNeasy protocol with on column DNA digestion. About 1-5 µg RNA were obtained from each individual. Integrity of total RNA samples was monitored by gel-electrophoresis before cDNA synthesis. Labeled cRNA synthesis and hybridization was performed following standard protocols.
2013-11-28 | E-GEOD-15568 | biostudies-arrayexpress