Project description:Microarray and miRNA expression data from five Ehlers-Danlos Syndrome Hypermobility type/Joint Hypermobility Syndrome (EDS-HT/JHS) patients' skin fibroblasts
Project description:To unravel the molecular mechanisms potentially associated with the pathogenesis of the EDS-HT/JHS. Transcriptome-wide expression profiling using the Affymetrix Gene 1.0 ST platform comparing the gene expression patterns of skin fibroblasts of five EDS-HT/JHS patients with those of six healthy individuals Comparison between five EDS-HT/JHS human fibroblasts and six healthy individuals
Project description:To screen for potential miRNA that may contribute to the etiopathogenesis of EDS-HT/JHS miRNA expression profiling was performed using the Affymetrix GeneChip® miRNA 3.0 Array and comparing the miRNA expression changes of skin fibroblasts of five EDS-HT/JHS patients with those of six healthy individuals Comparison of miRNA expression profiles between five EDS-HT/JHS human fibroblasts and six controls
Project description:To unravel the molecular mechanisms potentially associated with the pathogenesis of the EDS-HT/JHS. Transcriptome-wide expression profiling using the Affymetrix Gene 1.0 ST platform comparing the gene expression patterns of skin fibroblasts of five EDS-HT/JHS patients with those of six healthy individuals
Project description:To screen for potential miRNA that may contribute to the etiopathogenesis of EDS-HT/JHS miRNA expression profiling was performed using the Affymetrix GeneChip® miRNA 3.0 Array and comparing the miRNA expression changes of skin fibroblasts of five EDS-HT/JHS patients with those of six healthy individuals
Project description:Multicellular spheroid from 10 Ehlers-Danlos SYndrome (EDS) patients were used to perform transcritomic experiment. These were compared to 4 control healty samples with the aim to identify dysregulated genes and pathways and to use this information to propose potential drugs that could be repurposed for the treatment, based on computational approaches to drug repositioning.In summary, this comprehensive study expands our understanding of the molecular basis of Ehlers-Danlos syndrome, particularly relating to COL3A1 mutations. The integration of transcriptomic analysis, pathway studies, and drug repurposing strategies provides a robust framework for identifying potential therapeutic strategies for EDS.
Project description:Ehlers-Danlos SYndrome (SEDSY) was performed compared to 4 control healty samples with the aim to identify dysregulated genes and pathways and to use this information to propose potential drugs that could be repurposed for the treatment, based on computational approaches to drug repositioning.In summary, this comprehensive study expands our understanding of the molecular basis of Ehlers-Danlos syndrome, particularly relating to COL3A1 mutations. The integration of transcriptomic analysis, pathway studies, and drug repurposing strategies provides a robust framework for identifying potential therapeutic strategies for EDS.
Project description:Periodontal Ehlers–Danlos syndrome (pEDS) is a rare, distinct hereditary disorder characterized by early onset periodontal destruction, tissue fragility and joint hypermobility. pEDS is caused by mutant variants of C1R (and C1S) genes, which encode the C1s (and C1s) subunits of the first component of the classical complement pathway. Abberant serine protease activation will result in C4 cleavage and local complement cascade activation, as well as other possible consequences. Although multiple studies have investigated the genetic variant analysis of pEDS, the transcriptome profiles of pEDS remain unknown. To better understand the pathomechanism underlying the clinical manifestation of pEDS and to identify novel molecular targets that may expand treatment strategies, our study performed transcriptome profiling by RNA sequencing of patient-derived monocytes from 2 pEDS patients and 3 normal controls. Genes related to periodontal host defense, inflammatory response, skin disease and vascular development were significantly enriched. Furthermore, we identified genes that may be involved in the pathogenesis of periodontal destruction and pretibial pigmentation of pEDS. Overall, our study presents the first pEDS transcriptomics data, revealing distinct molecular features in monocytes of periodontal Ehlers–Danlos syndrome, and serves as a tool to better understand the disease.
