Dermatomyositis
Ontology highlight
ABSTRACT:
ORGANISM(S): Homo sapiens
PROVIDER: GSE1551 | GEO | 2004/10/01
SECONDARY ACCESSION(S): PRJNA89951
REPOSITORIES: GEO
Similar Datasets
Project description:muscle biopsies of normal and dermatomyositis patients
2007-08-03 | E-GEOD-1551 | biostudies-arrayexpress
Project description:The purpose of this study was to use global gene expression analysis to determine major functional pathways and genes dysregulated in the skin of active rashes of dermatomyositis patients. These data will be used to help assign a diagnosis to skin biopsies from patients with rashes that are not clearly dermatomyositis. In addition, we will correlate gene expression changes with specific histopathologic changes in skin biopsies that are taken adjacent to those analyzed for gene expression analysis. Finally, these data will be used to search for genes and pathways that are associated with clinical outcomes and autoantibody status in this cohort of patients.
2013-04-20 | GSE46239 | GEO
Project description:Muscle biopsies were taken from 6 patients with dermatomyositis, 4 with polymyositis and 5 not myopathic subjects as controls. The genome-wide expression patterns were compared using Affymetrix HG-U133A chips. Experiment Overall Design: Gene expression profiles were generated for 15 individuals.
2011-04-23 | E-MEXP-2681 | biostudies-arrayexpress
Project description:The purpose of this study was to use global gene expression analysis to determine major functional pathways and genes dysregulated in the skin of active rashes of dermatomyositis patients. These data will be used to help assign a diagnosis to skin biopsies from patients with rashes that are not clearly dermatomyositis. In addition, we will correlate gene expression changes with specific histopathologic changes in skin biopsies that are taken adjacent to those analyzed for gene expression analysis. Finally, these data will be used to search for genes and pathways that are associated with clinical outcomes and autoantibody status in this cohort of patients. Gene expression profiling of healthy donor and dermatomyositis patient skin biopsy specimens.
2013-04-20 | E-GEOD-46239 | biostudies-arrayexpress
Project description:Purpose: Studying the efficacy and safety of apremilast as an add-on therapy in patients with recalcitrant cutaneous dermatomyositis. Studying the mechanism of action of apremilast in dermatomyositis by performing RNA sequencing and immunohistochemistry on skin biopsies before and after treatment. Methods: We enrolled 8 patients with recalcitrant dermatomyositis. Apremilast 30 mg orally twice daily was added to a stable treatment regimen of steroids and/or steroids sparing agents and patients were followed for 7 months. A CDASI, muscle score, dermatology life quality index (DLQI), and depression assessments were performed at baseline and regularly till month 7. Skin biopsies were performed at baseline and 3-months post-apremilast to study gene expression alterations. Results: Our ORR assessed at 3 months post apremilast was 87.5%. The response was maintained at 6 months with continued decrease in CDASI and improvement in DLQI. The mean decrease in CDASI was 12.9 points (p<0.05). Apremilast was well tolerated and without any grade 3 or higher adverse events using CTCAE version 5. RNA sequencing was performed on skin biopsies from 7 patients before and 3 months after apremilast. Out of 39,076 expressed genes, there were 195 whose expression changed ≥2-fold at P<0.01 (123 down- and 72 up-regulated), several genes are known JAK-STAT targets. Using GSEA analysis, we identified 13 pathways significantly downregulated by apremilast, notably STAT1, STAT3, IL-2, IL-6, IL-12, IL-23, INFγ, and TNFα pathways. Immunohistochemical staining confirmed JAK/STAT signaling inhibition at the protein level. Conclusions: Apremilast is a safe and efficacious add-on treatment in recalcitrant dermatomyositis with an overall response rate of 87.5%, and functions through downregulation of JAK/STAT signaling in dermatomyositis.
2022-01-11 | GSE193276 | GEO
Project description:MHC-I overexpression in muscle biopsies is a hallmark of inflammatory myopathies.However the mechanisms of MHC-I overexpression in each disease is not well understood. Microarray analysis from MHC-I-microdissected myofibers showed a differential expression signature in each inflammatory myopathy. Innate immunity and IFN-I pathways are upregulated vs healthy controls, specifically in dermatomyositis (DM). RNA from MHC-I-positive myofibers were obtained from muscle biopsies of 5 patients with dermatomyositis, 5 with polymyositis, 4 with inclusion body myositis and normal looking fibers from healthy controls.
2013-12-01 | E-GEOD-48280 | biostudies-arrayexpress
Project description:We report the RNAseq gene expression levels of in the muscle biopsies of 39 subjects with adult dermatomyositis (DM) and 20 normal muscle specimens (NT)
2020-01-31 | GSE143323 | GEO
Project description:Background :To evaluate the impact of the duration of chronic inflammation on gene expression in skeletal muscle biopsies (MBx) from untreated children with juvenile dermatomyositis (JDM) and identify genes and biological processes associated with the disease progression, expression profiling data from 16 girls with active symptoms of JDM greater or equal to 2 months were compared with 3 girls with active symptoms less than 2 months. Results: Seventy-nine genes were differentially expressed between the groups with long or short duration of untreated disease. Genes involved in immune responses and vasculature remodeling were expressed at a higher level in muscle biopsies from children with greater or equal to 2 months of symptoms, while genes involved in stress responses and protein turnover were expressed at a lower level. Among the 79 genes, expression of 9 genes showed a significant linear regression relationship with the duration of untreated disease. Five differentially expressed genes--HLA-DQA1, smooth muscle myosin heavy chain, clustering, plexin D1 and tenomodulin--were verified by quantitative RT-PCR. The chronic inflammation of longer disease duration was also associated with increased DC-LAMP+ and BDCA2+ mature dendritic cells, identified by immunohistochemistry. Conclusions: We conclude that chronic inflammation alters the gene expression patterns in muscle of untreated children with JDM. Symptoms lasting greater or equal to 2 months were associated with dendritic cell maturation and anti-angiogenic vascular remodelling, directly contributing to disease pathophysiology. Keywords: Disease progression; time course
2008-07-18 | GSE11971 | GEO
Project description:Idiopathic inflammatory myopathies (polymyositis and dermatomyositis) are heterogeneous group of muscle disorders of unknown etiology.The pathogenic pathways responsible for muscle fiber damage and dysfunction in myositis are not currently well defined. Identification of such pathways may help to design novel therapeutic interventions and also help to develop diagnostic tests. Experiment Overall Design: Muscle biopsies from a separate group of 5 adult untreated female DM patients were profiled and compared to muscle tissue of normal human healthy volunteers to define molecular pathways in muscle of myositis patients. Confirm and map key pathway members to specific cell types in the muscle tissue of patients and controls using RT-PCR, Western blotting and Immunolocalization.
2007-10-26 | E-GEOD-5370 | biostudies-arrayexpress
Project description:Juvenile dermatomyositis (JDM), the most common pediatric inflammatory myopathy, is a systemic vasculopathy affecting young children. Epidemiology studies documenting an antecedent illness in the 3 mo before the first definite symptom (rash and/or weakness) of JDM are supported by immunologic data that suggest that the disease pathophysiology is Ag driven. The purpose of this study was to compare the gene expression profiles in muscle biopsies of four untreated DQA1*0501(+) JDM children with profiles from children with a known necrotizing myopathy (Duchenne muscular dystrophy), as well as an in vitro antiviral model (NF90), and healthy pediatric controls. Nearly half (47%) of the dysregulated genes in JDM were associated with the immune response. In particular, increased expression of IFN-alphabeta-inducible genes 6-16, myxovirus resistance protein p78, latent cytosolic transcription factor, LMP2, and TAP1 was observed. This profile is consistent with an IFN-alphabeta transcription cascade seen in the in vitro viral resistance model. The IFN-alphabeta-inducible profile was superimposed on transcription profiles reflective of myofiber necrosis and regeneration shared with Duchenne muscular dystrophy. Expressed genes were confirmed by quantitative real-time PCR (6-16), immunofluorescence (thrombospondin 4), and immunolocalization (IFN-gamma, p21). Keywords: other
2003-07-16 | GSE493 | GEO