Search results for "expression"
showing 10 items of 5168 documents
Genetics and Beyond – The Transcriptome of Human Monocytes and Disease Susceptibility
2010
BACKGROUND: Variability of gene expression in human may link gene sequence variability and phenotypes; however, non-genetic variations, alone or in combination with genetics, may also influence expression traits and have a critical role in physiological and disease processes. METHODOLOGY/PRINCIPAL FINDINGS: To get better insight into the overall variability of gene expression, we assessed the transcriptome of circulating monocytes, a key cell involved in immunity-related diseases and atherosclerosis, in 1,490 unrelated individuals and investigated its association with >675,000 SNPs and 10 common cardiovascular risk factors. Out of 12,808 expressed genes, 2,745 expression quantitative trait …
Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy
2009
The exstrophy-epispadias complex (EEC) comprises a spectrum of urogenital anomalies in which part or all of the distal urinary tract fails to close. The present study aimed to identify microaberrations characterized by loss or gain of genomic material that contribute to the EEC at a genome-wide level. Molecular karyotyping, utilizing 549,839 single nucleotide polymorphisms (SNPs) with an average spacing of 5.7 kilobases, was performed to screen an initial cohort of 16 patients with non-syndromic EEC. A de novo microduplication involving chromosomal region 22q11.21 was identified in one patient with classic exstrophy of the bladder (CBE). Subsequent multiplex ligation-dependent probe amplifi…
Neural responses to emotional stimuli in comorbid borderline personality disorder and bipolar depression
2010
"\"Borderline personality disorder (BPD) is a severe clinical condition characterised by different maladaptive traits such as impulsivity and affective lability. Mood and emotion dysregulation are core features of affective disorders. Indeed patients affected by mood disorder (MD) have a significantly higher prevalence of comorbid BPD, resulting in more unstable mood and poorer response to medication. Blood oxygen level-dependent functional magnetic resonance imaging has been used to investigate the neural correlates of emotional face processing. Images for each subject were entered into an analysis of variance (ANOVA) dividing participants into three groups (MD, MD + BPD, Controls). MD + B…
A comprehensive untargeted metabonomic analysis of human steatotic liver tissue by RP and HILIC chromatography coupled to mass spectrometry reveals i…
2011
Steatosis, or excessive accumulation of lipids in the liver, is a generally accepted previous step to the development of more severe conditions like nonalcoholic steatohepatitis, fibrosis, and cirrhosis. We aimed, to characterize the metabolic profile that defines simple steatosis in human tissue and to identify potential disturbances in the hepatic metabolism that could favor the switch to progressive liver damage. A total of 46 samples, 23 from steatotic and 23 from nonsteatotic human livers, were analyzed following a holistic LC-MS-based metabonomic analysis that combines RP and HILIC chromatographic separations. Multivariate statistical data analysis satisfactorily classified samples an…
Flow cytometric analysis of glyoxalase-1 expression in human leukocytes.
2011
Altered glyoxalase-1 (GLO-1) activity and expression is associated with the development of late diabetic complications, malignancy and oxidative stress- and aging-related diseases. In the present study, we developed a flow cytometry method for GLO-1 detection in human leukocytes isolated from peripheral blood samples to investigate GLO-1 expression in leukocyte subsets from type 1 and 2 diabetes mellitus patients (n = 11) and healthy subjects (n = 8). The flow cytometry analysis of GLO-1 in leukocytes showed that expression index of GLO-1-positive cells was slightly increased in mononuclear leukocytes from diabetic patients. This result correlated with the increase in GLO-1 activity in the …
The time line of threat processing and vagal withdrawal in response to a self-threatening stressor in cognitive avoidant copers: evidence for vigilan…
2010
Using a spatial cueing paradigm with emotional and neutral facial expressions as cues, we examined early and late patterns of information processing in cognitive avoidant coping (CAV). Participants were required to detect a target that appeared either in the same location as the cue (valid) or in a different location (invalid). Cue–target onset asynchrony (CTOA) was manipulated to be short (250 ms) or long (750 ms). CAV was associated with early facilitation and faster disengagement from angry faces. No effects were found for happy or neutral faces. After completing the spatial cueing task, participants prepared and delivered a public speech and heart rate variability (HRV) was recorded. Di…
LOW-RANK APPROXIMATION BASED NON-NEGATIVE MULTI-WAY ARRAY DECOMPOSITION ON EVENT-RELATED POTENTIALS
2014
Non-negative tensor factorization (NTF) has been successfully applied to analyze event-related potentials (ERPs), and shown superiority in terms of capturing multi-domain features. However, the time-frequency representation of ERPs by higher-order tensors are usually large-scale, which prevents the popularity of most tensor factorization algorithms. To overcome this issue, we introduce a non-negative canonical polyadic decomposition (NCPD) based on low-rank approximation (LRA) and hierarchical alternating least square (HALS) techniques. We applied NCPD (LRAHALS and benchmark HALS) and CPD to extract multi-domain features of a visual ERP. The features and components extracted by LRAHALS NCP…
The development of facial emotion recognition: The role of configural information
2007
International audience; The development of children's ability to recognize facial emotions and the role of configural information in this development were investigated. In the study, 100 5-, 7-, 9-, and 11-year-olds and 26 adults needed to recognize the emotion displayed by upright and upside-down faces. The same participants needed to recognize the emotion displayed by the top half of an upright or upside-down face that was or was not aligned with a bottom half that displayed another emotion. The results showed that the ability to recognize facial emotion develops with age, with a developmental course that depends on the emotion to be recognized. Moreover, children at all ages and adults e…
Bcl-2 as prognostic factor in head and neck squamous cell carcinoma
2005
A series of 66 cases of oral squamous cell carcinoma (OSCC) was retrospectively analyzed by immunohisto-chemistry for bcl-2 expression to verify its predictive value for clinical outcome in patients with OSCC. After grouping for bcl-2 expression, OSCCs were statistically analyzed for the variables age, gender, histological grading (G), TNM, staging, recurrence, and overall survival rate. Univariate and multivariate (Cox regression) analyses were performed. Thirty-six OSCC (54.5%) showed expression for bcl-2, whereas 30 (44.5%) were negative. No statistical association was found between bcl-2 expression and any variables considered at baseline. Overall disease-specific survival rate at 72 mo…
N170 response to facial expressions is modulated by the affective congruency between the emotional expression and preceding affective picture
2013
Does contextual affective information influence the processing of facial expressions already at the relatively early stages of face processing? We measured event-related brain potentials to happy and sad facial expressions primed by preceding pictures with affectively positive and negative scenes. The face-sensitive N170 response amplitudes showed a clear affective priming effect: N170 amplitudes to happy faces were larger when presented after positive vs. negative primes, whereas the N170 amplitudes to sad faces were larger when presented after negative vs. positive primes. Priming effects were also observed on later brain responses. The results support an early integration in processing o…