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Gene-expression patterns reveal underlying biological processes in Kawasaki disease.

ABSTRACT: This SuperSeries is composed of the SubSeries listed below.

ORGANISM(S): Homo sapiens

PROVIDER: GSE9873 | GEO | 2007/12/13

SECONDARY ACCESSION(S): PRJNA103861

REPOSITORIES: GEO

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Gene-expression patterns reveal underlying biological processes in Kawasaki disease.

Project description:BackgroundKawasaki disease (KD) is an acute self-limited vasculitis and the leading cause of acquired heart disease in children in developed countries. No etiologic agent(s) has been identified, and the processes that mediate formation of coronary artery aneurysms and abatement of fever following treatment with intravenous immunoglobulin (IVIG) remain poorly understood.ResultsIn an initial survey, we used DNA microarrays to examine patterns of gene expression in peripheral whole blood from 20 children with KD; each was sampled during the acute, subacute, and convalescent phases of the illness. Acute KD was characterized by increased relative abundance of gene transcripts associated with innate immune and proinflammatory responses and decreased abundance of transcripts associated with natural killer cells and CD8+ lymphocytes. There was significant temporal variation in transcript levels during the acute disease phase and stabilization thereafter. We confirmed these temporal patterns in a second cohort of 64 patients, and identified additional inter-individual differences in transcript abundance. Notably, higher levels of transcripts of the gene for carcinoembryonic antigen-related cell adhesion molecule 1 (CEACAM1) were associated with an increased percentage of unsegmented neutrophils, fewer days of illness, higher levels of C-reactive protein, and subsequent non-response to IVIG; this last association was confirmed by quantitative reverse transcription PCR in a third cohort of 33 patients, and was independent of day of illness.ConclusionAcute KD is characterized by dynamic and variable gene-expression programs that highlight the importance of neutrophil activation state and apoptosis in KD pathogenesis. Our findings also support the feasibility of extracting biomarkers associated with clinical prognosis from gene-expression profiles of individuals with systemic inflammatory illnesses.

| S-EPMC2246263 | biostudies-literature

Genome-wide studies reveal novel biological pathways regulated by SIN3 isoforms

Project description:This SuperSeries is composed of the SubSeries listed below. Refer to individual Series

2016-01-09 | E-GEOD-72173 | biostudies-arrayexpress

Novel Dent disease 1 cellular models reveal biological processes underlying ClC-5 loss-of-function.

Project description:Dent disease 1 (DD1) is a rare X-linked renal proximal tubulopathy characterized by low molecular weight proteinuria and variable degree of hypercalciuria, nephrocalcinosis and/or nephrolithiasis, progressing to chronic kidney disease. Although mutations in the electrogenic Cl-/H+ antiporter ClC-5, which impair endocytic uptake in proximal tubule cells, cause the disease, there is poor genotype-phenotype correlation and their contribution to proximal tubule dysfunction remains unclear. To further discover the mechanisms linking ClC-5 loss-of-function to proximal tubule dysfunction, we have generated novel DD1 cellular models depleted of ClC-5 and carrying ClC-5 mutants p.(Val523del), p.(Glu527Asp) and p.(Ile524Lys) using the human proximal tubule-derived RPTEC/TERT1 cell line. Our DD1 cellular models exhibit impaired albumin endocytosis, increased substrate adhesion and decreased collective migration, correlating with a less differentiated epithelial phenotype. Despite sharing functional features, these DD1 cell models exhibit different gene expression profiles, being p.(Val523del) ClC-5 the mutation showing the largest differences. Gene set enrichment analysis pointed to kidney development, anion homeostasis, organic acid transport, extracellular matrix organization and cell-migration biological processes as the most likely involved in DD1 pathophysiology. In conclusion, our results revealed the pathways linking ClC-5 mutations with tubular dysfunction and, importantly, provide new cellular models to further study DD1 pathophysiology.

| S-EPMC8283206 | biostudies-literature

DNA methylation patterns in twins discordant for ALS reveal concordant signatures of disease

Project description:This SuperSeries is composed of the SubSeries listed below.

2017-01-15 | GSE89474 | GEO

Impact of Gene Dosage on Gene Expression, Biological Processes and Survival in Cervical Cancer: a Genome-Wide Follow-Up Study

Project description:This SuperSeries is composed of the SubSeries listed below. Refer to individual Series

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Diagnosis of Kawasaki Disease in children using host RNA expression

Project description:This SuperSeries is composed of the SubSeries listed below.

2018-08-09 | GSE73464 | GEO

Integrative Analysis of Transcriptomic and Epigenomic Data to Reveal Regulation Patterns for Osteoporosis Risk

Project description:This SuperSeries is composed of the SubSeries listed below. Refer to individual Series

2014-10-22 | E-GEOD-62589 | biostudies-arrayexpress

Kinetic RNA polymerase II occupancy, associated histone marks, and mRNA accumulation reveal transcriptional and post-transcriptional mechanisms underlying circadian gene expression

Project description:This SuperSeries is composed of the SubSeries listed below. Refer to individual Series

2012-12-06 | E-GEOD-35790 | biostudies-arrayexpress

Temporal Genomics Mechanisms Underlying Disease and Aging

Project description:This SuperSeries is composed of the SubSeries listed below.

2023-03-21 | GSE227815 | GEO

Genome-wide studies reveal novel biological pathways regulated by SIN3 isoforms

Project description:This SuperSeries is composed of the SubSeries listed below.

2016-01-09 | GSE72173 | GEO

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