Project description:Single-cell RNA-seq of human dermal fibroblasts, stimulated with IFNB 1000 IU for 2 or 6 hours, and profiled using the SmartSeq2 protocol.
Project description:Dermal fibroblasts from human, stimulated with dsRNA (poly I:C) in a time course of 0, 2, 6 hours, profiled using the Smart-seq2 protocol
Project description:The innate immune response - the expression programme that is initiated once a pathogen is sensed - is known to be variable among responding cells, as well as to rapidly evolve in the course of mammal evolution. To study the transcriptional divergence and cell-to-cell variability of this response, we stimulated dermal fibroblast cells from two primates (human and macaque) and two rodents (mouse and rat) with dsRNA - a mimic of viral RNA that elicits a rapid innate immune response. Subsequently, we profiled the response using bulk RNA-seq, scRNA-seq and ChIP-seq across the four species and across different time points.<br>This experiment contains data of dermal fibroblasts from 3 human individuals, unstimulated, sequenced by 10X Genomics technology. Corresponding data from stimulated cells are found under ArrayExpress accession <a href="/arrayexpress/experiments/E-MTAB-5989">E-MTAB-5989</a>.
Project description:The innate immune response - the expression programme that is initiated once a pathogen is sensed - is known to be variable among responding cells, as well as to rapidly evolve in the course of mammal evolution. To study the transcriptional divergence and cell-to-cell variability of this response, we stimulated dermal fibroblast cells from two primates (human and macaque) and two rodents (mouse and rat) with dsRNA - a mimic of viral RNA that elicits a rapid innate immune response. Subsequently, we profiled the response using bulk RNA-seq, scRNA-seq and ChIP-seq across the four species and across different time points.<br>This experiment contains data of dermal fibroblasts from 3 human individuals, stimulated with dsRNA (poly I:C) for 6 hours, sequenced by 10X Genomics technology. Corresponding data from unstimulated cells are found under ArrayExpress accession <a href="/arrayexpress/experiments/E-MTAB-5988">E-MTAB-5988</a>.
Project description:Hidradenitis suppurativa (HS), also termed acne inversa, is a persistent inflammatory dermatological condition affecting approximately 1% of the global population, causing significant morbidity. The etiology of HS is not fully elucidated, but it is known that immune dysfunction plays a critical role. In our research to discern the role of non-coding RNA in HS, we initially conducted a comparative analysis of the most significantly altered long non-coding RNA (lncRNA) and mRNA expressions.
Project description:The overall aim was to investigate the effects of low and high dose vitamin D supplementation on genome-wide gene expression and how this is modulated by genetic variation. We adopted a functional genomics approach to analyse study participants in the BEST-D clinical trial (placebo, low dose or high dose supplementation over a 12-month treatment period).
Project description:DNA methylation analysis using HumanMethylation850K BeadChips (Illumina) in human blood samples before and after an 18 months weight-loss intervention: the CENTRAL study [randomized controlled trial; NCT01530724]. All subjects underwent either Mediterranean/low-carbohydrate or low-fat diet with or without physical activity.
Project description:Autoantibodies (Aab) are frequent in systemic sclerosis (SSc). While recognized as potent biomarkers, their pathogenic role is much debated. This study explored the effect of purified IgG from SSc patients on the phenotype and function of healthy dermal fibroblast (FB) using an innovative multi-omics approach.
Project description:We employed single-cell RNA sequencing to understand stromal changes in murine melanomas and draining lymph nodes at single cell resolution at different points of tumour development.
Project description:We describe a case of severe neonatal anemia with kernicterus due to compound heterozygosity for null mutations in KLF1, each inherited from asymptomatic parents. One of the mutations is novel. This is the first described case of a KLF1 null human. The phenotype of severe DAT-negative non-spherocytic hemolytic anaemia (NSHA), jaundice, hepato-splenomegaly, and marked erythroblastosis is more severe than that present in CDA type IV due to dominant mutations in the second zinc-finger of KLF1. There was a very high level of HbF expression into childhood (>70%), consistent with a key role for KLF1 in human hemoglobin switching. We performed RNA-seq on circulating erythroblasts and found human KLF1 acts like mouse Klf1 to coordinate expression of many genes required to build a red cell including those encoding globins, cytoskeletal components, AHSP, heme synthesis enzymes, cell cycle regulators, and blood group antigens. We identify novel KLF1 target genes including KIF23 and KIF11 which are required for proper cytokinesis. We also identify new roles for KLF1 in autophagy, global transcriptional control and RNA splicing. We suggest loss of KLF1 should be considered in otherwise unexplained cases of severe neonatal NSHA or hydrops fetalis. mRNA sequencing on peripheral blood from a family trio (mother, father and proband) where parents were asymptomatic and proband had severe neonatal anemia.