Browse
Submit Data
Databases
API
Help

Unknown,Transcriptomics,Genomics,Proteomics

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Decreased miRNA expression in Klinefelter syndrome

ABSTRACT: The widely variable phenotypic spectrum and the different symptom severity in men with Klinefelter syndrome (KS) suggest a role for epigenetic mediators. Therefore, the aim of this study was to evaluate the possible involvement of miRNAs in the clinical manifestations of KS. To accomplish this, we performed a transcriptome analysis in peripheral blood mononuclear cells (PBMCs) of 10 non-mosaic KS patients , 10 aged-matched healthy male and 10 aged-matched healthy female controls with normal karyotype. After RNA extraction from PBMC and the preparation of small RNA libraries, the samples were sequenced using next generation high-throughput sequencing technology. Expression profiling analysis revealed a significant differential expression of 2 miRNAs in KS compared to male controls. In particular, MIR3648 resulted significantly (p<0.0001) down-regulated by -19.084- fold, while MIR3687was non-expressed at all (p<0.0001) in KS patients. These results were confirmed by qRT-PCR. The functional analysis of the two transcripts showed that they seem to play a role in breast cancer, hemopoietic abnormalities, immune defects and adipocyte differentiation and fat cell maturation. Therefore, we speculate that both miRNAs may play a role in the immune and metabolic disorders and in the risk of breast cancer development in men with KS.

INSTRUMENT(S): Illumina HiSeq 2500

ORGANISM(S): Homo sapiens

SUBMITTER: Giorgio Giuratro

PROVIDER: E-MTAB-6107 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

ACCESS DATA

Json Xml

Similar Datasets

Novel Targeted Proteomic Profiling of Potential Biomarkers in Postural Orthostatic Tachycardia Syndrome (POTS)

Project description:Postural orthostatic tachycardia syndrome (POTS) is a cardiovascular autonomic disorder leading to debilitating symptoms and the therapeutic alternatives are limited. Proteomics is a large-scale study of proteins that enables a systematic unbiased view on disease and health, allowing stratification on patients based on their protein background. We aimed to explore proteins that may be related with the putative etiology of POTS compared with healthy controls using a highly powerful targeted proteomic mass spectrometry technique. We aimed to explore proteins that may be related with the putative etiology of POTS compared with healthy controls using a highly powerful targeted proteomic mass spectrometry technique.

2022-11-24 | PXD031458 | Pride

miRNA profiling array results in serum RNA (healthy volunteers and breast tumor patients)

Project description:To identify serum miRNAs as biomarkers for breast cancer, RNA from 7 serum pools (healthy volunteers: n=100, benign patients: n=100，cancer patients: n=94, Lymph nodes positive: n=36, lymph nodes negative: n=58, carcinoma in situ: n=25, infiltrating carcinoma: n=69) were screened by Affymetrix microarray 4.0.

2018-07-12 | E-MTAB-6652 | biostudies-arrayexpress

Klinefelter Syndrome testicular gene expression profile by a whole genome microarray approach.

Project description:Objective: Klinefelter Syndrome (KS) is the most common sexual chromosome abnormality (47,XXY) and represents the first genetic cause of male infertility. The mechanisms leading to KS testis degeneration are still unclear and no therapy is so far available for affected patients. The present study is aimed to unravel information about molecules playing a key role in the disruption of the spermatogenesis. Design: Gene expression profiles analysis of KS azoospermic testis versus normal testis, could provide useful information about the molecular basis of the alteration of the spermatogenesis. Materials and Methods: Transcriptome analysis was performed carrying out gene expression profile by a whole genome microarray approach on testis biopsies obtained from 6 azoospermic non-mosaic KS men and from 3 controls, for a total of 12 experiments. T-test and False Discovery Rate were used to evaluate differentially expressed genes. Identified transcripts were analysed by Ingenuity Pathways Analysis software to disclose genes biological functions. Results: Data analysis revealed the differentially up- and down-expression, in KS testis versus the control ones, of 656 and 247 genes related to Endocrine system development and function, Lipid metabolism, Reproductive disease, Free radical scavenging, and Cell death. Conclusions: Take together these data show the presence of several genes involved in testis microenvironment deregulation leading to the spermatogenesis failure. This information, associated with an early diagnosis could help to unravel possible therapeutic targets for testis failure prevention and limitation. Gene expression profile of 6 azoospermic KS testicular biopsies versus 3 pooled control testicular biposies form patients with normal spermatogenesis. A total of 12 experiments was carried out including biological and technical replicates.

2014-06-15 | E-GEOD-54023 | biostudies-arrayexpress

Transcription profiling of Kaposi sarcoma, normal skin and primary cells

Project description:Identification of the relationships of Kaposi sarcoma (KS), normal skin to various cell cultures. The effects of KS herpes virus, the infectious cause of KS, on infected endothelial cells are also investigated.

2004-08-01 | E-MEXP-66 | biostudies-arrayexpress

New Insights into the Complex Pathophysiology of Restless Legs Syndrome from a Transcriptome Analysis of mRNAs

Project description:For this study 17 drug-free patients (13 F and 4 M, mean age 55.8 years, range 24-76; mean IRLS severity scale 21.1; mean disease duration 6.6 years) were enrolled, along with age- and sex-matched controls. RNA sequencing was used to perform this transcriptome study using the Illumina Novaseq 6000 System.

2024-01-01 | E-MTAB-13155 | biostudies-arrayexpress

Environmental factors transmitted by aryl hydrocarbon receptor influence severity of psoriatic skin inflammation [RNA-Seq]

Project description:Environmental stimuli are known to contribute to psoriasis pathogenesis and that of other autoimmune diseases, but the mechanism is unknown. Here we show that the aryl hydrocarbon receptor (AhR), a transcription factor that senses environmental stimuli, modulates pathology in psoriasis. AhR-activating ligands reduced inflammation in the lesional skin of psoriasis patients, whereas AhR antagonists upregulated inflammation. Similarly, AhR signaling via the endogenous FICZ ligand reduced the inflammatory response in the imiquimod-induced model of psoriasis and AhR deficient mice exhibited a substantial exacerbation of the disease, compared to AhR sufficient controls. Non-haematopoietic cells, in particular keratinocytes, were responsible for this hyper-inflammatory response, which involved increased reactivity to IL-1beta and upregulation of AP-1 family members of transcription factors. Thus, our data suggest a critical role for AhR in the regulation of inflammatory responses and open the possibility for novel therapeutic strategies in chronic inflammatory disorders. Total RNA obtained from skin explants taken from psoriatic patients or healthy donors cultured in the presence of AhR agonist or antagonist

2014-06-11 | E-GEOD-47944 | biostudies-arrayexpress

Proteomics of muscle microdialysates identifies potential circulating biomarkers in Facioscapulohumeral muscular dystrophy

Project description:Facioscapulohumeral muscular dystrophy (FSHD) is caused by a complex epigenetic mechanism finally leading to the misexpression of DUX4, a transcription factor normally silenced in skeletal muscle. Detecting DUX4 in skeletal muscle and quantifying disease progression in FSHD is extremely challenging, thus increasing the need for other surrogate biomarkers. We applied a shotgun proteomic approach with two different setups to analyze the protein repertoire of interstitial fluids obtained from 20 FSHD patients’ muscles in different disease stages classified by Magnetic Resonance Imaging (MRI) and controls. Serum samples from the same subjects were also analyzed. A total of 1156 proteins were identified in the microdialysates by Data Independent Acquisition, 130 of which only found in muscles in active disease stage. Proteomic profiles of interstitial fluids were able to distinguish FSHD patients from controls. Among the upregulated proteins in muscles with active disease, two innate immunity mediators (S100-A8 and A9) and Dermcidin were detected with both proteomic approaches and selectively present in the sera of FSHD patients. Structural muscle proteins were downregulated, consistent with signs of early damage, as well as proteins of the plasminogen pathway. This suggests, together with upstream inhibition in FSHD samples of myogenic factors, defective muscle regeneration and increased fibrosis already in early/active disease. Conclusions: our MRI targeted exploratory approach provided insights on pathophysiological pathways activated in early disease, confirming that inflammatory response has a prominent role, together with impaired muscle regeneration. We also identified three proteins as tissue and possibly circulating prognostic biomarkers in FSHD.

2021-09-09 | PXD021838 | Pride

The profile of cellular and KSHV microRNAs in AIDS_KS biopsies (and normal skin control biopsies)

Project description:Kaposi sarcoma is the most common cancer in AIDS patients and is typified by red skin lesions. The disease is caused by the KSHV virus (HHV8) and is recognisable by its distinctive red skin lesions. The lesions are KSHV-infected spindle cells, most commonly the lymphatic endothelial and blood vessel endothelial cells (LEC and BEC), plus surrounding stroma. Here we study the microRNA profiles of the KS lesion biopsies in AIDS patients (including both the cellular and KSHV microRNA). There are (n=3) normal skin biopsies from healthy patients and (n=5) AIDS-KS biopsies. Three of the AIDS-KS biopsies were technically replicated and 2 were single hybridisations.

2010-05-22 | E-GEOD-16353 | biostudies-arrayexpress

Articular cartilage proteome differentiates by zones during osteoarthritis

Project description:Articular cartilage is deprived of blood vessels and nerves, and the only cells residing in this tissue are chondrocytes. The molecular properties of the articular cartilage and the architecture of the extracellular matrix demonstrate a complex structure that differentiates on the depth of tissue. Osteoarthritis (OA) is a degenerative joint disease, the most common form of arthritis, affecting the whole joint. It is associated with ageing and affects the joints that have been continually stressed throughout life including the knees, hips, fingers, and lower spine region. OA is a multifactorial condition of joint characterised by articular cartilage loss, subchondral bone sclerosis, and inflammation leading to progressive joint degradation, structural alterations, loss of mobility and pain. Articular cartilage biology is well studied with a focus on musculoskeletal diseases and cartilage development. However, there are relatively few studies focusing on zonal changes in the cartilage during osteoarthritis.

2022-05-19 | PXD029116 | Pride

Expression data of the iPSCs derived from foreskin fibroblast cells of normal person and KS patient

Project description:Klinefelter’s Syndrome (KS) is one of the common chromosome aneuploidy diseases in males with unexplained physiological mechanism. iPSCs, are similar to ESCs in terms of indefinitive self-renewal and pluripotency, provided an alternative choice for modeling disease to facilitate the disease research in vitro. We used microarray to detect the global reprogramming of KS and normal fibroblast cells to iPSCs. Also we used microarray to explore the possible molecular varieties between KS patient and normal person in the early development. Fibroblast cells from both normal person and KS patient were reprogrammed into iPSCs by ectopic expression of OCT4, SOX2, KLF4 and C-MYC. The expression profiles of normal and KS fibroblast cells, a line of normal iPSCs and two lines of KS iPSCs as well as a line of human ESCs were detected.

2012-04-13 | E-GEOD-37258 | biostudies-arrayexpress

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data