A genetic study of the PRF1 gene has shown association of several polymorphisms with multiple sclerosis (MS). Haplotype analysis identified risk haplotypes strongly associated with male patients having the primary-progressive form of MS (PPMS). Gene expression microarrays were performed in 10 male PPMS patients carrying the risk (n=6) and protective haplotypes (n=4) in order to identify pathways associated with the risk haplotypes. Pathway analysis revealed overrepresentation of the cell killing gene ontology category among down-regulated genes in patients carrying risk haplotypes compared with patients carrying protective haplotypes.
Gender-associated differences of perforin polymorphisms in the susceptibility to multiple sclerosis.
Sex, Specimen part, Disease
View SamplesGenetic factors contribute to the development of ischemic stroke but their identity remains largely unknown. We tested the association with ischemic stroke of 210 single nucleotide polymorphisms (SNPs) associated with pathways functionally related to stroke. We observed an association between the rs7956957 SNP in LRP1 and next performed microarrays analysis in healthy individuals to investigate possible associations of LRP genotypes with the expression of other genes.
Brain perihematoma genomic profile following spontaneous human intracerebral hemorrhage.
Sex, Age, Specimen part
View SamplesSpontaneous intracerebral hemorrhage (ICH) represents about 15% of all strokes and is associated with high mortality rates. Our aim was to identify the gene expression changes and biological pathways altered in the brain following ICH.
Brain perihematoma genomic profile following spontaneous human intracerebral hemorrhage.
Sex, Age, Specimen part
View SamplesGlucocorticoids are part of the therapeutic armamentarium of chronic lymphocytic leukemia where it has been suggested that cells with unmutated IGHV genes exhibit higher sensitivity. The mechanisms by which glucorticoids are active in CLL are not well elucidated.
Differential gene expression profile associated to apoptosis induced by dexamethasone in CLL cells according to IGHV/ZAP-70 status.
Specimen part
View SamplesIncreased numbers of mast cells and their products have been linked to symptom onset and severity in patients with chronic diarrhea and abdominal pain. Although mast-cell inhibition ameliorates clinical manifestations and reduces mucosal inflammation, underlying molecular mechanisms remain unknown.
No associated publication
Specimen part, Disease, Treatment
View SamplesMicro-inflammation and gut dysfunction are features of diarrhea-irritable bowel syndrome (d-IBS) patients, although the underlying interacting molecular mechanisms remain mostly unknown. Therefore, we aimed to identify critical networks and signaling pathways active in chronic diarrhea-associated inflammation.
No associated publication
Specimen part, Disease
View SamplesMHC-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).
Altered RIG-I/DDX58-mediated innate immunity in dermatomyositis.
Specimen part, Disease
View SamplesYeast strain BY4741 was grown overnight at 30C in YPD rich media. The yeast culture was diluted to an OD600 of 0.1 using fresh YPD media and further grown until an OD600 of 0.2. Then, alpha -factor mating pheromone (GenScript) was added to a final concentration of 10 uM to allow cell synchronization at G1 phase. After 2.5 h, the alpha-factor was removed by harvesting the cells for 10 min at 6000 rpm and decanting supernatant. The arrested cells were inoculated in fresh YPD rich medium to be released from G1-arrest. Samples were collected at 0, 30, 40, 50, and 70 mins, 7.5 ml samples were collected for RNA extraction while 40 ml samples were taken for nucleosomal DNA preparation and for flow cytometry (FACS). Samples for RNA isolation were collected by pipetting the culture directly into 15-ml Falcon tubes containing 7.5 ml of icy-water to quickly chill the cells. Cells were harvested by spinning for 3-4 min at 6000 rpm, frozen in liquid N2 and stored at - 80C. Total cellular RNA was extracted using the RNeasy kit (Qiagen), following the manufacturer’s instructions with the spheroplasting protocol. Purified RNA samples were quantified by Qubit fluorometer (Invitrogen, Inc.) and Nanodrop spectrophotometer (Thermo Scientific, Inc.). The total RNA was hybridized to Affymetrix GeneChip Yeast Genome 2.0 arrays for gene expression analysis.
No associated publication
Time
View SamplesEvaluation of early transcriptional changes in blood brain barrier genes involved in the patogenesis of brain edema associated with ALF.
No associated publication
Specimen part
View SamplesIdentify differentially expressed genes related to the neurodegenerative process in a new animal model of hepatic encephalopathy (HE).
Cerebellar neurodegeneration in a new rat model of episodic hepatic encephalopathy.
Specimen part, Treatment
View Samples