Homo sapiens isolate:primary skin fibroblasts
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA382346 | ENA |
REPOSITORIES: ENA
Dataset's files
| Action | DRS | |||
|---|---|---|---|---|
| SRR5436090_1.fastq.gz | Fastqsanger.gz | |||
| SRR5436090_2.fastq.gz | Fastqsanger.gz | |||
| SRR5436100_1.fastq.gz | Fastqsanger.gz | |||
| SRR5436100_2.fastq.gz | Fastqsanger.gz | |||
| SRR5438070_1.fastq.gz | Fastqsanger.gz |
Items per page: 5 1 - 5 of 144 |
Similar Datasets
Project description:Aging signatures developed from a longitudinal study design are dominated by reduced transcription of genes involved in protein synthesis Aging is a multifactorial process where the impact of singular components still remains unclear. Furthermore, previous studies were focused on measuring specific traits such as DNA -methylation and used categorical group-wise designs, unable to capture intra-individual signature changes. Here we have developed a new method for a longitudinal, age-related analysis combining the merits of a pair-wise design with the statistical power of gene set enrichment analysis. We present an integrated analysis, including transcriptional changes and genome-wide epigenetic changes in DNA- methylation, H3K4- and H3K27- histone methylation in promoter regions. We tested our method on a rare collection of paired skin fibroblast samples from male middle age to old age transitions and obtained functional, age-related clusters. By using a set of only ten individuals, we could demonstrate a high overlap of functional terms to previously established tissue-independent age signatures including extracellular matrix, apoptosis and oxidative stress. Importantly, we identify protein translation-related processes as the main cluster of age-driven, specific down regulation. Evaluation of transcriptional changes in matched sample pairs of primary skin fibroblasts from middle and old age.
2014-10-23 | E-GEOD-51518 | biostudies-arrayexpress
Project description:MicroRNAs are non-coding RNAs with roles in many cellular processes. Tissue-specific miRNA profiles associated with senescence have been described for several cell and tissue types. We aimed to characterise miRNAs involved in core, rather than tissue-specific, senescence pathways by assessment of common miRNA expression differences in two different cell types, with follow-up of predicted targets in human peripheral blood. MicroRNAs were profiled in early and late passage primary lung and skin fibroblasts to identify commonly-deregulated miRNAs. Expression changes of their bioinformatically-predicted mRNA targets were then assessed in both cell types and in human peripheral blood from elderly participants in the InCHIANTI study. 57/178 and 26/492 microRNAs were altered in late passage skin and lung cells respectively. Three miRNAs (miR-92a, miR-15b and miR-125a-3p) were altered in both tissues. 14 mRNA targets of the common miRNAs were expressed in lung and skin fibroblasts, of which two demonstrated up-regulation in late passage skin and lung cells (LYST; p = 0.02 [skin] and 0.02 [lung] INMT; p = 0.03 [skin] and 0.04 [lung]). ZMPSTE24 and LHFPL2 demonstrated altered expression in late passage skin cells only (p = 0.01 and 0.05 respectively). LHFPL2 was also positively correlated with age in peripheral blood (p value = 6.6 × 10(-5)). We find that the majority of senescence-associated miRNAs demonstrate tissue-specific effects. However, miRNAs showing common effects across tissue types may represent those associated with core, rather than tissue-specific senescence processes.
| S-EPMC5871870 | biostudies-literature
Project description:Background & Aims: Most inflammatory bowel diseases (IBDs) are classic polygenic disorders represented by common alleles. However, multiple determinants of very early-onset IBD characterized by a more extensive disease course remain largely unknown. The present study aimed to define the genetic architecture of pediatric and adult-onset IBDs in the Polish population. Results: Of 82 SNPs validated/replicated for association with IBD, a novel BRD2 (rs1049526) association was found in both pediatric (OR= 2.35) and adult (OR= 2.66) patients. Thirty SNPs were shared between pediatric and adult patients; 22 and 30 were unique to adult-onset and pediatric-onset IBD, respectively. WES identified numerous rare/infrequent, potentially deleterious variants in IBD-associated or innate immunity-associated genes. Both groups of variants were over-represented in affected children. Two highly deleterious homozygous variants, HLA-DRB1 c.565_566insC and NCF4 p.Arg8Trp, were found in two affected children, and WAS p.Glu131Lys was found in one child and one adult patient. Conclusions: Our GWAS revealed differences in the polygenic architecture of pediatric- and adult-onset IBD. A significant accumulation of rare/low frequency deleterious variants in affected children suggests a contribution by yet unexplained genetic components.
2017-01-01 | GSE79094 | GEO
Project description:Aging signatures developed from a longitudinal study design are dominated by reduced transcription of genes involved in protein synthesis Aging is a multifactorial process where the impact of singular components still remains unclear. Furthermore, previous studies were focused on measuring specific traits such as DNA -methylation and used categorical group-wise designs, unable to capture intra-individual signature changes. Here we have developed a new method for a longitudinal, age-related analysis combining the merits of a pair-wise design with the statistical power of gene set enrichment analysis. We present an integrated analysis, including transcriptional changes and genome-wide epigenetic changes in DNA- methylation, H3K4- and H3K27- histone methylation in promoter regions. We tested our method on a rare collection of paired skin fibroblast samples from male middle age to old age transitions and obtained functional, age-related clusters. By using a set of only ten individuals, we could demonstrate a high overlap of functional terms to previously established tissue-independent age signatures including extracellular matrix, apoptosis and oxidative stress. Importantly, we identify protein translation-related processes as the main cluster of age-driven, specific down regulation.
2014-10-23 | GSE51518 | GEO
Project description:In our genome-wide association study, we searched for an association of genetic variants with colorectal cancer, type 1 diabetes, Hodgkin lymphoma and Diffuse large B-cell lymphoma among Polish population.
2021-07-02 | GSE156411 | GEO
Project description:Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive degeneration of the corticospinal motor neurons, which ultimately leads to death. The repeat expansion in chromosome 9 open reading frame 72 (C9ORF72) represents the most common genetic cause of ALS and it is also involved in the pathogenesis of other neurodegenerative disorders. To offer insights into C9ORF72-mediated pathogenesis, we quantitatively analyzed the proteome of patient-derived primary skin fibroblasts from ALS patients carrying the C9ORF72 mutation compared with ALS patients who tested negative for it. Differentially expressed proteins were identified, used to generate a protein-protein interaction network and subjected to a functional enrichment analysis to unveil altered molecular pathways. ALS patients were also compared with patients affected by frontotemporal dementia carrying the C9ORF72 repeat expansion. As a result, we demonstrated that the molecular pathways mainly altered in fibroblasts (e.g., protein homeostasis) mirror the alterations observed in C9ORF72-mutated neurons. Moreover, we highlighted novel molecular pathways (nuclear and mitochondrial transports, vesicle trafficking, mitochondrial bioenergetics, glucose metabolism, ER-phagosome crosstalk and Slit/Robo signaling pathway) which might be further investigated as C9ORF72-specific pathogenetic mechanisms. Data are available via ProteomeXchange with the identifier PXD023866.
| S-EPMC8508815 | biostudies-literature
Project description:Immortalized cell lines can be used for diverse in vitro experiments, providing invaluable data before conducting in vivo studies Callithrix jacchus, the common marmoset, is a non-human primate model utilized for studying various human diseases. However, only a few immortalized marmoset cell lines are currently available. In the present study, we reveal that CRISPR-Cas9-mediated targeting of the p53 gene or CDKN2A locus is an effective means for immortalizing primary marmoset skin fibroblasts. In addition to frameshift mutations that result in premature stop codons, in-frame mutations potentially destroying the DNA-binding motif of p53 are frequently detected in immortalized cells. Like Cdkn2a-deficient mouse cells, CDKN2A-deficient marmoset cells express wild-type p53 proteins normally respond to genotoxic stresses, including adriamycin and etoposide. Taken together, these findings indicate that Cas9- mediated gene targeting of the p53 gene or CDKN2A locus is an effective tool for establishing immortalized marmoset cell lines with defined genetic alterations.
| S-EPMC9809370 | biostudies-literature
Project description:Immunoproteasomes are specialized multiprotein proteases, that degrade intracellular proteins thereby generating antigenic peptides for HLA class I antigen presentation. Mutations in immunoproteasomal genes are associated with systemic autoinflammatory diseases. We identified a newborn with severe T lymphopenia and found a de novo heterozygous PSMB10 p.Gly209Arg variant. Molecular dynamics analysis predicted and biochemical studies confirmed the variant to impact assembly and function of the immunoproteasome resulting in impaired cytokine responses to interferons. Skin fibroblasts obtained from the patient (PSMB10G209R) and a healthy individual of comparative age (PSMB10WT) were treated with or without 75U/ml recombinant Human IFN-γ. 5 different cell passages for independent treatments to assess significance of alterations. RNA was isolated from cells to investigate the alteration in IFN response between PSMB10WT and PSMB10G209R. Skin fibroblasts obtained from the patient (PSMB10G209R) and a healthy individual of comparative age (PSMB10WT) were treated with or without 75U/ml recombinant Human IFN-γ. 5 different cell passages for independent treatments to assess significance of alterations. RNA was isolated from cells to investigate the difference of IFN response between PSMB10WT and PSMB10G209R.
2025-02-11 | GSE288134 | GEO
Project description:Environmental air pollution such as diesel smoke emission has been shown to have an adverse effect on human skin. Although epidemiological studies showing adverse effects such as oxidative stress-induced aging exists, studies showing the cellular and molecular response to such stress are rare. Using a primary skin keratinocyte model and TMT-based quantitative proteomics strategy, we studied the effects of chronic exposure to diesel particulate matter (DPE) and DPE vapor on the cellular proteome and the ability of a known anti-oxidant Vitamin E in ameliorating such changes. LC-MS3 analysis of DPE and/or its vapor exposed skin keratinocytes resulted in quantification of 4,490 proteins of which 201 and 374 proteins were significantly dysregulated (≥1.5 fold, p-value ≥0.05) in each condition, respectively. We observed distinct molecular alterations in chronic DPE and DPE vapor exposure models. Dysregulation of several cellular processes such as cell cycle and gene regulation, oxidative stress response proteins, skin barrier integrity and skin hydration were observed in both DPE and DPE vapor exposed cells.
2018-11-06 | PXD006743 | Pride
Project description:Aging signatures developed from a longitudinal study design are dominated by reduced transcription of genes involved in protein synthesis. Aging is a multifactorial process where the impact of singular components still remains unclear. Furthermore, previous studies were focused on measuring specific traits such as DNA -methylation and used categorical group-wise designs, unable to capture intra-individual signature changes. Here we have developed a new method for a longitudinal, age-related analysis combining the merits of a pair-wise design with the statistical power of gene set enrichment analysis. We present an integrated analysis, including transcriptional changes and genome-wide epigenetic changes in DNA- methylation, H3K4- and H3K27- histone methylation in promoter regions. We tested our method on a rare collection of paired skin fibroblast samples from male middle age to old age transitions and obtained functional, age-related clusters. By using a set of only ten individuals, we could demonstrate a high overlap of functional terms to previously established tissue-independent age signatures including extracellular matrix, apoptosis and oxidative stress. Importantly, we identify protein translation-related processes as the main cluster of age-driven, specific down regulation. H3K4me3, H3K27me3 and DNA- methylation longitudinal aging profiles from primary skin fibroblasts from matched pairs of early (E) and late (L) stages in life.
2014-10-23 | E-GEOD-51517 | biostudies-arrayexpress