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Transcriptomic evaluation of pediatric localized scleroderma skin with histological and clinical correlation

ABSTRACT: In this study, we explored enhanced results of RNA transcriptomic expression between pediatric localized scleroderma skin tissue and healthy control skin. Additional histological and clinical comparison of LS patient features with DEGs supports an inflammatory and fibroproliferative grouping demonstrated in unsupervised clustering of the transcriptomic data.

ORGANISM(S): Homo sapiens

PROVIDER: GSE166863 | GEO | 2021/06/12

REPOSITORIES: GEO

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Genetic Signatures from RNA sequencing of Pediatric Localized Scleroderma (LS) Skin

Project description:In this study, we explored the initial results of RNA transcriptomic expression between pediatric localized scleroderma skin tissue and healthy control skin, with a subanalyses of transcriptomic expression in different disease states. LS gene signatures compared to healthy controls showed a distinct expression of an inflammatory response gene signature (IRGS) composed of IFNγ, IFNα and TNFα associated genes.

2021-06-12 | GSE166861 | GEO

Transcriptomic evaluation of pediatric localized scleroderma skin with histological and clinical correlation

Project description:Transcriptomic evaluation of pediatric localized scleroderma skin with histological and clinical correlation

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DNA methylation patterns in juvenile systemic sclerosis and localized scleroderma

Project description:Scleroderma refers to a group of chronic fibrotic immune-mediated diseases of unknown etiology. Characterizing epigenetic changes in childhood-onset scleroderma, systemic sclerosis or localized scleroderma, has not been previously performed. The aim of this study was to assess DNA methylation differences and similarities between juvenile systemic sclerosis (jSSc) and juvenile localized scleroderma (jLS) compared to matched healthy controls. Genome-wide DNA methylation changes in peripheral blood mononuclear cell samples were assessed using the MethylationEPIC array followed by bioinformatic analysis and limited functional assessment. We identified a total of 105 and 144 differentially methylated sites compared to healthy controls in jSSc and jLS, respectively. The majority of differentially methylated sites and genes represented were unique to either jSSc or jLS suggesting a different underlying epigenetic pattern in both diseases. Among shared differentially methylated genes, methylation levels in a CpG site in FGFR2 can distinguish between LS and healthy PBMCs with a high accuracy. Canonical pathway analysis revealed that inflammatory pathways were enriched in genes differentially methylated in jSSc, including STAT3, NF-κB, and IL-15 pathways. In contrast, the HIPPO signaling pathway was enriched in jLS. Our data also suggest a potential role for NOTCH3 in both jSSc and jLS, and revealed a number of transcription factors unique to each of the two diseases. In summary, our data revealed important insights into jSSc and jLS and suggest a potentially novel epigenetic diagnostic biomarker for LS.

2021-05-24 | GSE175379 | GEO

Genetic Signatures from RNA sequencing of Pediatric Localized Scleroderma (LS) Skin

Project description:Genetic Signatures from RNA sequencing of Pediatric Localized Scleroderma (LS) Skin

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Effect of autologous fat grafting on Localized Scleroderma (morphea)

Project description:Localized scleroderma (LoS), or morphea, refers to a group of rare autoimmune connective tissue diseases. Autologous fat grafting was able to correct volume loss in patients with LoS to improve facial disfigurement.However, whether it could exert a positive effect on reversing skin sclerosis remains unclear.

2023-11-20 | GSE247804 | GEO

Real-time quantitative PCR analysis of 88 microRNAs involved in human cell differentiation and development in involved skin of systemic scleroderma (SSc), localized scleroderma (LSc) and Keloid.

Project description:Skin specimens were derived from involved skin of 3 systemic scleroderma (SSc), 3 localized scleroderma (LSc) and 3 keloid patients. These skin samples and 3 control skins were collected and fixed in formaldehyde immediately after resections. The microRNA (miRNA) isolation from human skin tissue was performed using miRNeasy FFPE kit (Qiagen). For PCR array, miRNAs were reverse-transcribed into first strand cDNA using RT2 miRNA First Strand Kit (SABiosciences). A mixture of equal amounts of miRNAs from 3 normal skins, 3 SSc, 3 LSc or 3 keloid were prepared, and miRNA expression profile in each disease in vivo was evaluated using RT2 Profiler PCR Array. The cDNA was mixed with RT2 SYBR Green/ROX qPCR Master Mix and the mixture was added into 96-well RT2 miRNA PCR Array that includes primer pairs for 88 human miRNAs (SABiosciences). Skin specimens were derived from involved skin of 3 systemic scleroderma (SSc), 3 localized scleroderma (LSc) and 3 keloid patients. These skin samples and 3 control skins were collected and fixed in formaldehyde immediately after resections. Control donors were each matched with diseases for age, sex, and biopsy site.

2013-01-15 | E-GEOD-43469 | biostudies-arrayexpress

Inhibition of histone readers bromodomain extra-terminal proteins alleviates scleroderma fibrosis

Project description:We assessed transcriptomic changes in fibroblasts isolated from skin biopsies from diffuse cutaneous scleroderma patients before and after BET inhibitor JQ1 treatment

2022-03-01 | GSE186961 | GEO

Real-time quantitative PCR analysis of 88 microRNAs involved in human cell differentiation and development in involved skin of systemic scleroderma (SSc), localized scleroderma (LSc) and Keloid.

2013-01-15 | GSE43469 | GEO

Systemic and cell type-specific gene expression patterns in scleroderma skin

Project description:This SuperSeries is composed of the following subset Series: GSE3886: Scleroderma Morphea Normal Fibroblasts GSE3887: Scleroderma Architecture Cell Lines Abstract: We used DNA microarrays representing >12,000 human genes to characterize gene expression patterns in skin biopsies from individuals with a diagnosis of systemic sclerosis with diffuse scleroderma. We found consistent differences in the patterns of gene expression between skin biopsies from individuals with scleroderma and those from normal, unaffected individuals. The biopsies from affected individuals showed nearly indistinguishable patterns of gene expression in clinically affected and clinically unaffected tissue, even though these were clearly distinguishable from the patterns found in similar tissue from unaffected individuals. Genes characteristically expressed in endothelial cells, B lymphocytes, and fibroblasts showed differential expression between scleroderma and normal biopsies. Analysis of lymphocyte populations in scleroderma skin biopsies by immunohistochemistry suggest the B lymphocyte signature observed on our arrays is from CD20+ B cells. These results provide evidence that scleroderma has systemic manifestations that affect multiple cell types and suggests genes that could be used as potential markers for the disease Refer to individual Series

2006-03-07 | E-GEOD-4385 | biostudies-arrayexpress

Transcription profiling of human skin bioposis from patients with diffuse scleroderma and limited scleroderma

Project description:RNA expression profiling was carried out for systemic sclerosis (scleroderma) on skin biopsies obtained from both diffuse scleroderma (dcSSc) and limited scleroderma (lcSSc) subjects patients and compared to normal subjects. The patient group comprised of 4 dcSSc and 2 lcSSc subjects, all of whom were Caucasian and belonged to the age range of 42-73 (Mean age = 61.6). Patient sample set consisted of 3 females and 3 males. Race matched female volunteers from the same geographical area were recruited as controls (n = 4) and belonged to the age range of 41-62 (Mean age = 52).

2015-03-25 | E-MEXP-1214 | biostudies-arrayexpress

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