506 research outputs found
Gene Expression Profiling and Association Studies Implicate the Neuregulin Signaling Pathway in Behçet's Disease Susceptibility
Behçet's disease (BD) is a complex disease with genetic and environmental risk factors implicated in its etiology; however, its pathophysiology is poorly understood. To decipher BD's genetic underpinnings, we combined gene
expression profiling with pathway analysis and association studies. We compared the gene expression profiles in peripheral
blood mononuclear cells (PBMCs) of 15 patients and 14 matched controls using Affymetrix microarrays and found
that the neuregulin signaling pathway was over-represented among the differentially expressed genes. The Epiregulin (EREG), Amphiregulin (AREG), and Neuregulin-1 (NRG1) genes of this pathway stand out as they are also among the top differentially expressed genes. Twelve haplotype tagging
SNPs at the EREG-AREG locus and 15 SNPs in NRG1 found associated in at least one published BD genome-wide association
study were tested for association with BD in a dataset of 976 Iranian patients and 839 controls. We found a novel association with BD for the rs6845297 SNP located downstream of EREG, and replicated three associations at NRG1 (rs4489285, rs383632, and rs1462891). Multifactor dimensionality
reduction analysis indicated the existence of epistatic interactions between EREG and NRG1 variants. EREG-AREG and NRG1, which are members of the epidermal growth factor
(EGF) family, seem to modulate BD susceptibility through main effects and gene–gene interactions. These association
findings support a role for the EGF/ErbB signaling pathway inBD pathogenesis that warrants further investigation and
highlight the importance of combining genetic and genomic approaches to dissect the genetic architecture of complex
diseases
IL10 Low-Frequency Variants in Behçet's Disease Patients
To explain the missing heritability after the genome-wide association studies era, sequencing studies allow the identification of low-frequency variants with a stronger effect on disease risk. Common variants in the interleukin 10 gene (IL10) have been consistently associated with Behçet's disease (BD) and the goal of this study is to investigate the role of low-frequency IL10 variants in BD susceptibility
Inter-hemispheric EEG coherence analysis in Parkinson's disease : Assessing brain activity during emotion processing
Parkinson’s disease (PD) is not only characterized by its prominent motor symptoms but also associated with disturbances in cognitive and emotional functioning. The objective of the present study was to investigate the influence of emotion processing on inter-hemispheric electroencephalography (EEG) coherence in PD. Multimodal emotional stimuli (happiness, sadness, fear, anger, surprise, and disgust) were presented to 20 PD patients and 30 age-, education level-, and gender-matched healthy controls (HC) while EEG was recorded. Inter-hemispheric coherence was computed from seven homologous EEG electrode pairs (AF3–AF4, F7–F8, F3–F4, FC5–FC6, T7–T8, P7–P8, and O1–O2) for delta, theta, alpha, beta, and gamma frequency bands. In addition, subjective ratings were obtained for a representative of emotional stimuli. Interhemispherically, PD patients showed significantly lower coherence in theta, alpha, beta, and gamma frequency bands than HC during emotion processing. No significant changes were found in the delta frequency band coherence. We also found that PD patients were more impaired in recognizing negative emotions (sadness, fear, anger, and disgust) than relatively positive emotions (happiness and surprise). Behaviorally, PD patients did not show impairment in emotion recognition as measured by subjective ratings. These findings suggest that PD patients may have an impairment of inter-hemispheric functional connectivity (i.e., a decline in cortical connectivity) during emotion processing. This study may increase the awareness of EEG emotional response studies in clinical practice to uncover potential neurophysiologic abnormalities
Alpha2 Macroglobulin-Like Is Essential for Liver Development in Zebrafish
Background: Alpha 2 Macroglobulin family members have been studied extensively with respect to their roles in physiology and human disease including innate immunity and Alzheimer’s disease, but little is known about a possible role in liver development loss-of-function in model systems. Principal Findings: We report the isolation of the zebrafish a2 macroglobulin-like (A2ML) gene and its specific expression in the liver during differentiation. Morpholino-based knock-down of A2ML did not block the initial formation of the liver primordium, but inhibited liver growth and differentiation. Significance: This report on A2ML function in zebrafish development provides the first evidence for a specific role of an A2M family gene in liver formation during early embryogenesis in a vertebrate
photoproduction on the proton for photon energies from 0.725 to 2.875 GeV
Differential cross sections for the reaction have been
measured with the CEBAF Large Acceptance Spectrometer (CLAS) and a tagged
photon beam with energies from 0.725 to 2.875 GeV. Where available, the results
obtained here compare well with previously published results for the reaction.
Agreement with the SAID and MAID analyses is found below 1 GeV. The present set
of cross sections has been incorporated into the SAID database, and exploratory
fits have been made up to 2.7 GeV. Resonance couplings have been extracted and
compared to previous determinations. With the addition of these cross sections
to the world data set, significant changes have occurred in the high-energy
behavior of the SAID cross-section predictions and amplitudes.Comment: 18 pages, 10 figure
Differential cross sections and spin density matrix elements for the reaction gamma p -> p omega
High-statistics differential cross sections and spin density matrix elements
for the reaction gamma p -> p omega have been measured using the CLAS at
Jefferson Lab for center-of-mass (CM) energies from threshold up to 2.84 GeV.
Results are reported in 112 10-MeV wide CM energy bins, each subdivided into
cos(theta_CM) bins of width 0.1. These are the most precise and extensive omega
photoproduction measurements to date. A number of prominent structures are
clearly present in the data. Many of these have not previously been observed
due to limited statistics in earlier measurements
Observation of an Exotic Baryon in Exclusive Photoproduction from the Deuteron
In an exclusive measurement of the reaction , a
narrow peak that can be attributed to an exotic baryon with strangeness
is seen in the invariant mass spectrum. The peak is at
GeV/c with a measured width of 0.021 GeV/c FWHM, which is largely
determined by experimental mass resolution. The statistical significance of the
peak is . The mass and width of the observed peak are
consistent with recent reports of a narrow baryon by other experimental
groups.Comment: 5 pages, 5 figure
Measurement of Beam-Spin Asymmetries for Deep Inelastic Electroproduction
We report the first evidence for a non-zero beam-spin azimuthal asymmetry in
the electroproduction of positive pions in the deep-inelastic region. Data have
been obtained using a polarized electron beam of 4.3 GeV with the CLAS detector
at the Thomas Jefferson National Accelerator Facility (JLab). The amplitude of
the modulation increases with the momentum of the pion relative to
the virtual photon, , with an average amplitude of for range.Comment: 5 pages, RevTEX4, 3 figures, 2 table
Measurement of the Polarized Structure Function for in the Resonance Region
The polarized longitudinal-transverse structure function
has been measured in the resonance region at and 0.65
GeV. Data for the reaction were taken at Jefferson Lab
with the CEBAF Large Acceptance Spectrometer (CLAS) using longitudinally
polarized electrons at an energy of 1.515 GeV. For the first time a complete
angular distribution was measured, permitting the separation of different
non-resonant amplitudes using a partial wave analysis. Comparison with previous
beam asymmetry measurements at MAMI indicate a deviation from the predicted
dependence of using recent phenomenological
models.Comment: 5 pages, LaTex, 4 eps figures: to be published in PRC/Rapid
Communications. Version 2 has revised Q^2 analysi
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