Homo sapiens
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA662421 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:Congenital generalized lipodystrophy (CGL) is an autosomal recessive disorder characterized by defective adipose tissue, extreme insulin resistance, and early onset of diabetes. There are four types of congenital generalized lipodystrophy based on the causative genetic alterations. The symptoms and the degrees of disease progression are varied among all affected individuals, which might be due to unknown genetic modifiers. To identify potential predictive biomarkers associated with the disease progressions, we recruited 7 patients (cgl2_p1,cgl2_p2,cgl2_p3,cgl2_p4,cgl2_p5,cgl2_p6,cgl2_p7),as well as gender/aged-matched controls (cgl2_c1,cgl2_c2,cgl2_c3,cgl2_c4,cgl2_c5,cgl2_c6,cgl2_c7).The total RNA samples were extracted from the participants' peripheral blood mononuclear cells, followed by RNA-Seq. To find the molecular signatures that might be associated with disease progression, patients were further categorized into sub-groups based on the results of biochemical analysis and their clinical symptoms (e.g. diabetes, metabolic syndrome and metal retardation). DEGs were identified for each sub-groups of patients, and pathway analysis was performed to explore the underlying dysregulated mechanisms.
2021-08-18 | GSE159337 | GEO
Project description:A mutation in the c-Fos gene associated with congenital generalized lipodystrophy
| PRJNA171811 | ENA
Project description:Allele call files from on 250K StyI SNP array using DNA from 60 human cell lines from metastasized melanoma and from 44 corresponding peripheral blood mononuclear cells (CEL and CHP files provided).
2010-04-13 | GSE17534 | GEO
Project description:Behçet’s disease (BD) is a multisystemic immuno-inflammatory disorder characterized by a generalized vasculitis, particularly at the orogenital mucosa and eye. It is a complex disease with unclear pathogenesis. To better understand BD´s etiology, we performed genomic expression profiling of patients and controls. Gene expression profiling was performed in peripheral blood mononuclear cells (PBMCs) of 15 patients and 14 sex- and age-matched controls using Affymetrix microarrays. The ages of the patients and controls do not match on a one-to-one basis, but they match very well on average. The average age at examination of cases and controls is 37y.
2011-07-01 | E-GEOD-17114 | biostudies-arrayexpress
Project description:PPARgamma null (PpargΔ/Δ) mice and AZIP mice present a generalized lipodystrophy, accompanied by strong hyperlipidemia and hyperglycemia. Both mouse model develop progressive nephropathy. To shed ligh on the molecular mechanisms underlying the early kidney damage induced by lipodystrophy, we used microarrays to detail the global program of gene expression in whole kidney of PpargΔ/Δ mice and AZIP mice with their respective control mice at 3 weeks of age.
2018-02-28 | GSE90171 | GEO
Project description:The presence of some malignancies, such as cancer, impacts on peripheral blood mononuclear cells (PBMCs) gene expression profiling, suggesting the potential suitability of these genes as diagnostic and prognostic markers. The objective of this study was to identify new markers in peripheral blood that differentiate between PDAC patients and healthy controls as a means of facilitating early detection of the disease. 18 patients with unresectable PDAC were recruited. The diagnosis of PDAC was based on a positive biopsy of the pancreatic mass during the surgery. 18 gender, age, and habits matched healthy controls were also included. Whole genome cDNA microarray hybridization of PBMC samples was performed to identify potential PDAC markers.
2013-08-12 | E-GEOD-49641 | biostudies-arrayexpress
Project description:Inter-individual variability in DNA methylation has been hypothesized to contribute to complex phenotypes through epigenetic modulation of gene expression levels. Population epigenetic studies have been examining differences in DNA methylation in a variety of accessible tissues for association with specific diseases or exposures, but relatively little is known about how this inter-individual variation differs between tissues. This study presents an analysis of global DNA methylation differences between matched peripheral blood mononuclear cells and buccal epithelial cells; specifically it examines differential DNA methylation, probe-wise DNA methylation variance, and how methylation relates to a number of demographic factors across the two tissues. We found that peripheral blood mononuclear cells have overall higher DNA methylation than buccal epithelial cells, and regions of the genome that are differently methylated between the tissues tend to have low CpG density. We also discovered that although both tissues show extensive probe-wise variability, the specific regions and magnitude of variability differed between tissues. Finally, we observed that while both buccal epithelial and peripheral mononuclear blood cell DNA methylation was associated with gender, only methylation of the latter was associated with body mass index. The work presented here offers insight into variability of DNA methylation between individuals and across tissues and the suitability of buccal epithelial and peripheral mononuclear cells for the biological questions explored by epigenome-wide association studies in human populations.
2014-05-31 | GSE53396 | GEO
Project description:Genome wide DNA methylation profiling of Congenital Lipodystrophy type 2 patients, mutation carriers , and healthy control samples .The Infinium MethylationEPIC Kit was used to measure genome-wide DNA methylation across > 868,000 CpG sites.
2023-08-08 | GSE214297 | GEO
Project description:Allele call files from on 250K StyI SNP array using DNA from 60 human cell lines from metastasized melanoma and from 44 corresponding peripheral blood mononuclear cells (CEL and CHP files provided). Analysis of the 250K StyI arrays was performed for 60 malignant melanoma cell lines derived from metastatic tumors of melanoma patients with GCOS and GTYPE (Affymetrix). In addition, DNA from peripheral blood mononuclear cells (PBMC) was available for 44 of the 60 samples.
2010-04-13 | E-GEOD-17534 | biostudies-arrayexpress
Project description:Inter-individual variability in DNA methylation has been hypothesized to contribute to complex phenotypes through epigenetic modulation of gene expression levels. Population epigenetic studies have been examining differences in DNA methylation in a variety of accessible tissues for association with specific diseases or exposures, but relatively little is known about how this inter-individual variation differs between tissues. This study presents an analysis of global DNA methylation differences between matched peripheral blood mononuclear cells and buccal epithelial cells; specifically it examines differential DNA methylation, probe-wise DNA methylation variance, and how methylation relates to a number of demographic factors across the two tissues. We found that peripheral blood mononuclear cells have overall higher DNA methylation than buccal epithelial cells, and regions of the genome that are differently methylated between the tissues tend to have low CpG density. We also discovered that although both tissues show extensive probe-wise variability, the specific regions and magnitude of variability differed between tissues. Finally, we observed that while both buccal epithelial and peripheral mononuclear blood cell DNA methylation was associated with gender, only methylation of the latter was associated with body mass index. The work presented here offers insight into variability of DNA methylation between individuals and across tissues and the suitability of buccal epithelial and peripheral mononuclear cells for the biological questions explored by epigenome-wide association studies in human populations. This cohort consist of genomic DNA extracted from the peripheral blood mononuclear cells and buccal epithelial cells of 25 individuals, bisulphite converted and hybridized to the Illumina GoldenGate Methylation Cancer Panel for genome wide DNA methylation profiling
2014-05-31 | E-GEOD-53396 | biostudies-arrayexpress