Project description:Klinefelter syndrome (KS) is the most prevalent aneuploidy in males and is characterized by an extra copy of the X chromosome,while the non-mosaic form of KS with 47,XXY karyotype is the most frequent (80-90%), less common non-disjunction events during the early mitotic division of the zygote result in mosaic forms of KS (47,XXY/46,XY). Here, using a paradigmatic cohort of KS-inducible pluripotent stem cells (iPSCs) carrying 47,XXY karyotypes we present the first iPSC-based disease-modeling study performed on KS patients from Saudi Arabia. We profiled the transcriptome of these Saudi KS-iPSCs, virtually characterized by subduedcgenetic backgrounds. Moreover, we performed a comparative transcriptomic analysis to assess the aberrant gene expression profile due to X dosage imbalance in four Saudi and five European and North American 47,XXY patients-derived iPSCs from our previously published study on KS and high-grade sex chromosome aneuploidies (SCAs). We identified a transcriptomic signature including ten PAR1 genes and thirteen non-PAR escape genes consistently upregulated in KS compared to 46,XY controls in both groups, as well as 193 consistenty disregulated autosomal genes. Our results indicate that the global transcriptional impact of X chromosome overdosage in KS is largely attributable to X-linked genes escaping X inactivation, regardless of the geographical area of origin, ethnicity, and genetic background.
Project description:Whole transcript expression was profiled using the Affymetrix 1.0 array in human bronchial epithelial cells exposed to PM collected from Saudi Arabia for 1 or 4 days. The differentially expressed genes were identified and analyzed for enriched networks and pathways using Ingenuity Pathway Analysis (IPA). We have identified 140 and 230 genes that significantly changed more than 1.5 fold after PM exposure for 1 or 4 days, respectively. IPA analysis revealed that different exposure durations triggered distinct pathways. Genes involved in NRF2-mediated response to oxidative stress were up-regulated after 1 day exposure. In contrast, cells exposed for 4 days exhibited significantly changes in genes related to cholesterol and lipid synthesis pathways. We analyzed gene expression profiles from 12 samples collected at two different time points, including 2 untreated controls, 2 normal PM treated samples and 2 storm PM treated samples for each time point.
Project description:Whole transcript expression was profiled using the Affymetrix 1.0 array in human bronchial epithelial cells exposed to PM collected from Saudi Arabia for 1 or 4 days. The differentially expressed genes were identified and analyzed for enriched networks and pathways using Ingenuity Pathway Analysis (IPA). We have identified 140 and 230 genes that significantly changed more than 1.5 fold after PM exposure for 1 or 4 days, respectively. IPA analysis revealed that different exposure durations triggered distinct pathways. Genes involved in NRF2-mediated response to oxidative stress were up-regulated after 1 day exposure. In contrast, cells exposed for 4 days exhibited significantly changes in genes related to cholesterol and lipid synthesis pathways.
Project description:The purpose of this observational study is to assess the safety and effectiveness of biosimilar Infliximab in patients with inflammatory bowel disease (IBD) in Saudi Arabia where no visits or intervention(s) additional to the daily practice will be performed.
| 2267353 | ecrin-mdr-crc
Project description:SSU sequences from a semi-arid region plant and soil samples
Project description:Biological soil crusts (BSCs) are cyanobacteria-dominated microbial communities that cover extensive portions of the world’s arid and semi-arid deserts. The infrequent periods of hydration are often too short to allow for dormancy strategies based on sporulation; consequently, survival is based on the unique capabilities of vegetative cells to resuscitate from and re-enter a stress resistant dormant state, one of which is migration within the crust layers in response to hydration. In this study, we sought to characterize the events that govern the emergence of the dominant cyanobacterium from dormancy, its subsequent growth, and the events triggered by re-desiccation and a transition back to dormant state. We performed a 48 hour laboratory wetting experiment of a desert BSC and tracked the response of Microcoleus vaginatus using a whole genome transcriptional time-course including night/day periods. This allowed the identification of genes with a diel expression pattern, genes involved uniquely in the signaling after hydration and those that contribute primarily to desiccation preparation. Desert BSC samples collected from Moab, UT, were hydrated over a period of 48 hours followed by drying induced by removal of water. At periodic times soil samples were harvested and used for RNA extraction and whole genome expression analysis using an expression array representing genes from two strains of M. vaginatus (PCC 9802 and FGP-2)
Project description:The transcriptome signature of peripheral blood mononuclear cells (PBMCs) of Ladakhi cattle adapted to high altitude vis a vis Sahiwal cattle adapted to the arid/semi-arid region at mean sea level was established using bovine expression microarray chips. The transcriptome analysis of PBMCs from these cattle types living at two distinct altitudes, resulted in identification of several hundred differentially expressed genes, biological processes, molecular functions and pathways.
