Search results for "genetics [Transcriptome]"
showing 10 items of 3033 documents
Sporadic ALS is not associated with VAPB gene mutations in Southern Italy
2006
Abstract Mutations in the Cu/Zn superoxide dismutase (Sod1) gene have been reported to cause adult-onset autosomal dominant Amyotrophic Lateral Sclerosis (FALS). In sporadic cases (SALS) de novo mutations in the Sod1 gene have occasionally been observed. The recent finding of a mutation in the VAMP/synaptobrevin-associated membrane protein B (VAPB) gene as the cause of amyotrophic lateral sclerosis (ALS8), prompted us to investigate the entire coding region of this gene in SALS patients. One hundred twenty-five unrelated patients with adult-onset ALS and 150 healthy sex-age-matched subjects with the same genetic background were analyzed. Genetic analysis for all exons of the VAPB gene by DH…
Blockade of interleukin 6 trans signaling suppresses T-cell resistance against apoptosis in chronic intestinal inflammation: Evidence in Crohn diseas…
2000
The pro-inflammatory cytokine interleukin (IL)-6 (refs. 1-5) can bind to cells lacking the IL-6 receptor (IL-6R) when it forms a complex with the soluble IL-6R (sIL-6R) (trans signaling). Here, we have assessed the contribution of this system to the increased resistance of mucosal T cells against apoptosis in Crohn disease (CD), a chronic inflammatory disease of the gastrointestinal tract. A neutralizing antibody against IL-6R suppressed established experimental colitis in various animal models of CD mediated by type 1 T-helper cells, by inducing apoptosis of lamina propria T cells. Similarly, specific neutralization of sIL-6R in vivo by a newly designed gp130-Fc fusion protein caused suppr…
Cytokine Gene Transcription By NF-kappaB Family Members in Patients with Inflammatory Bowel Disease
1998
We examined the expression of the transcription factor NF-kappa B, a nuclear trans-acting factor known to play a key role in cytokine gene regulation, in patients with inflammatory bowel disease (IBD). It was found that LP macrophages in Crohn's disease (CD) and ulcerative colitis (UC) display high levels of NF-kappa B DNA-binding activity accompanied by an increased production of interleukin (IL)-1, IL-6, and tumor necrosis factor (TNF) alpha. Western blot studies showed an increased expression of the p50 and c-rel subunits of NF-kappa B; however, the most striking finding was an increased expression level of NF-kappa B p65 in patients with CD and UC. Selective downregulation of p65 in IBD…
Association between physical multimorbidity and sleep problems in 46 low- and middle-income countries
2022
BACKGROUND: Little is known about the association between multimorbidity (i.e., two or more chronic conditions) and sleep problems in the general adult populations of low- and middle-income countries (LMICs). Thus, we aimed to assess this association among adults from 46 LMICs, and to quantify the extent to which anxiety, depression, stress, and pain explain this association. METHODS: Cross-sectional, predominantly nationally representative, community-based data from the World Health Survey were analyzed. Nine chronic physical conditions (angina, arthritis, asthma, chronic back pain, diabetes, edentulism, hearing problems, tuberculosis, visual impairment) were assessed. To be included in th…
Are laboratory tests useful for monitoring the activity of lupus nephritis? A 6-year prospective study in a cohort of 228 patients with lupus nephrit…
2008
Objectives:To evaluate the role of immunological tests for monitoring lupus nephritis (LN) activity.Methods:C3, C4, anti-dsDNA and anti-C1q antibodies were prospectively performed over 6 years in 228 patients with LN.Results:In membranous LN only anti-C1q antibodies differentiated proteinuric flares from quiescent disease (p = 0.02). However, in this group 46% of flares occurred with a normal value of anti-C1q antibodies versus 20% in proliferative LN (p = 0.02). In patients with antiphospholipid antibodies (APL), 33% of flares occurred with normal levels of anti-C1q antibodies versus 14.5% in patients that were APL-negative (p = 0.02). In proliferative LN, anti-C1q antibodies showed a slig…
Intracellular Cytokine Staining and Flow Cytometry: Considerations for Application in Clinical Trials of Novel Tuberculosis Vaccines.
2015
Intracellular cytokine staining combined with flow cytometry is one of a number of assays designed to assess T-cell immune responses. It has the specific advantage of enabling the simultaneous assessment of multiple phenotypic, differentiation and functional parameters pertaining to responding T-cells, most notably, the expression of multiple effector cytokines. These attributes make the technique particularly suitable for the assessment of T-cell immune responses induced by novel tuberculosis vaccines in clinical trials. However, depending upon the particular nature of a given vaccine and trial setting, there are approaches that may be taken at different stages of the assay that are more s…
Contractile responses of human thyroid arteries to vasopressin
2013
Abstract Aims In the present study we investigated the intervention of nitric oxide and prostacyclin in the responses to vasopressin of isolated thyroid arteries obtained from multi-organ donors. Main methods Paired artery rings from glandular branches of the superior thyroid artery, one normal and the other deendothelised, were mounted in organ baths for isometric recording of tension. Concentration–response curves to vasopressin were determined in the absence and in the presence of either the vasopressin V 1 receptor antagonist d(CH 2 ) 5 Tyr(Me)AVP (10 − 8 M), the nitric oxide synthase inhibitor N G -monomethyl- l -arginine ( L -NMMA, 10 − 4 M), or the inhibitor of prostaglandins indom…
Functional Magnetic Resonance Imaging Activations of Cortical Eye Fields during Saccades, Smooth Pursuit, and Optokinetic Nystagmus
2009
Saccades, smooth pursuit, and optokinetic nystagmus (OKN) are three basic eye movements in our ocular motor repertoire that enable us to explore the visual field. These eye movements are cortically controlled in different cortical eye fields, including the frontal eye fields (FEF) and parietal eye fields (PEF), as well as the motion-sensitive visual area MT+/V5. It is not known if this cortical control is organized in parallel cortico-cortical networks or in adjacent subregions of one system. Nor do we know where the specific eye fields are exactly located. Functional magnetic resonance imaging (fMRI) was used to investigate these open questions about the FEF, PEF, and MT+/V5. Activations o…
Inhibitory interhemispheric visuovisual interaction in motion perception.
2003
Findings of an earlier functional magnetic resonance imaging (fMRI) study that coherent motion stimulation of the right or left visual hemifield exhibited negative signal changes (deactivations) in the primary visual cortex and the lateral geniculate nucleus contralateral to the stimulated hemisphere were evaluated to determine the functional significance of this contralateral inhibition of the visual system. Fourteen subjects participated in a psychophysical study on the perception of single object motion (0.4 degrees /s) in one visual hemifield with or without concurrent coherent motion stimulation of the contralateral hemifield. Mean detection times for horizontal object motion (0.5 +/- …
Investigation into mechanisms mediating the inhibitory effect of 1,4-benzodiazepines on mast cells by gene expression profiling.
2013
Abstract Aims This study aims to identify by a molecular genetic approach potential targets in mast cells at which 1,4-benzodiazepines may cause their inhibitory effect on mast cell activity. Main methods Gene expression analyses with microarray gene chip and/or quantitative PCR were performed using 1,4-benzodiazepine-treated human mast cell leukemia HMC-1.2 cells, promyelocytic leukemia HL-60 cells and human mast cells from healthy volunteers and patients with mast cell activation disease (MCAD). Pathway analysis was applied to search for enriched biological functions and canonical pathways within differentially regulated genes. Key findings Both neoplastic and normal human mast cells expr…