Search results for "NSC"
showing 10 items of 5810 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 …
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy (APECED) in Sicily: confirmation that R203X is the peculiar AIRE gene mutation.
2011
Background: Autoimmune polyendocrinopathycandidiasis-ectodermal-dystrophy (APECED), also known as autoimmune polyendocrine syndrome type 1 (APS-1) (OMIM 240300), is a very rare disease. Accepted criteria for diagnosis require the presence of at least 2 of 3 major clinical features: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (CH), and Addison's disease (AD). Aim: We analyzed AIRE gene mutations and genotype-phenotype correlation in APECED patients originating from Sicily and in their relatives. Subjects and methods: In 4 patients, clinical evaluations, genetic analysis of AIRE, and APECED-related autoantibodies were performed. Results: Two patients carried the mutati…
Clock genes beyond the clock: CLOCK genotype biases neural correlates of moral valence decision in depressed patients
2007
Gene polymorphisms in the mammalian biological clock system influence individual rhythms. A single nucleotide polymorphism (SNP) in the 3' flanking region of CLOCK (3111 T/C; rs1801260) influenced diurnal preference in healthy humans and caused sleep phase delay and insomnia in patients affected by bipolar disorder. Genes of the biological clock are expressed in many brain structures other than in the 'master clock' suprachiasmatic nuclei. These areas, such as cingulate cortex, are involved in the control of many human behaviors. Clock genes could then bias 'nonclock' functions such as information processing and decision making. Thirty inpatients affected by a major depressive episode under…
Are hepatitis G virus and TT virus involved in cryptogenic chronic liver disease?
2002
Abstract Background . Hepatitis G virus can cause chronic infection in man but the role of this agent in chronic liver disease is poorly understood. Little is known about the relation of another newly discovered agent, the TT virus, with chronic liver disease. Aim . To investigate the rate of infection with hepatitis G virus and TT virus in patients with cryptogenic chronic liver disease. Patients . A total of 23 subjects with chronically raised alanine transaminase and a liver biopsy in whom all known causes of liver disease had been excluded, and 4D subjects with hepatitis C virus-related chronic liver disease. Methods . Evaluation of anti-hepatitis G virus by enzyme immunoassay. Hepatiti…
Automatic numerical-spatial association in synaesthesia: An fMRI investigation
2016
A horizontal mental number line (MNL) is used to describe how quantities are represented across space. In humans, the neural correlates associated with such a representation are found in different areas of the posterior parietal cortex, especially, the intraparietal sulcus (IPS). In a phenomenon known as number-space synaesthesia, individuals visualise numbers in specific spatial locations. The experience of a MNL for number-space synaesthetes is explicit, idiosyncratic, and highly stable over time. It remains an open question whether the mechanisms underlying numerical-spatial association are shared by synaesthetes and nonsynaesthetes. We address the neural correlates of number-space assoc…
The EEG and fMRI signatures of neural integration: An investigation of meaningful gestures and corresponding speech
2015
Abstract One of the key features of human interpersonal communication is our ability to integrate information communicated by speech and accompanying gestures. However, it is still not fully understood how this essential combinatory process is represented in the human brain. Functional magnetic resonance imaging (fMRI) studies have unanimously attested the relevance of activation in the posterior superior temporal sulcus/middle temporal gyrus (pSTS/MTG), while electroencephalography (EEG) studies have shown oscillatory activity in specific frequency bands to be associated with multisensory integration. In the current study, we used fMRI and EEG to separately investigate the anatomical and o…
Hand‐related action words impair action anticipation in expert table tennis players : Behavioral and neural evidence
2021
Athletes extract kinematic information to anticipate action outcomes. Here, we examined the influence of linguistic information (experiment 1, 2) and its underlying neural correlates (experiment 2) on anticipatory judgment. Table tennis experts and novices remembered a hand- or leg-related verb or a spatial location while predicting the trajectory of a ball in a video occluded at the moment of the serve. Experiment 1 showed that predictions by experts were more accurate than novices, but experts’ accuracy significantly decreased when hand-related words versus spatial locations were memorized. For nonoccluded videos with ball trajectories congruent or incongruent with server actions in exper…
Parietal versus temporal lobe components in spatial cognition: Setting the mid-point of a horizontal line
2009
Recent anatomo-clinical correlation studies have extended to the superior temporal gyrus, the right hemisphere lesion sites associated with the left unilateral spatial neglect, in addition to the traditional posterior-inferior-parietal localization of the responsible lesion (supramarginal gyrus, at the temporo-parietal junction). The study aimed at teasing apart, by means of repetitive transcranial magnetic stimulation (rTMS), the contribution of the inferior parietal lobule (angular gyrus versus supramarginal gyrus) and of the superior temporal gyrus of the right hemisphere, in making judgments about the mid-point of a horizontal line, a widely used task for detecting and investigating spa…
Is that me in the mirror? Depersonalisation modulates tactile mirroring mechanisms
2016
Our sense of self is thought to develop through sensory-motor contingencies provided, not only by observing one's own body, but also by mirroring interactions with others. This suggests that there is a strong link between mirroring mechanisms and the bodily self. The present study tested whether this link is expressed at early, implicit stages of the mirroring process or at later, more cognitive stages. We also provide, to the best of our knowledge, the first demonstration of how inter-individual differences in our sense of bodily self may affect mirroring mechanisms. We used somatosensory event-related potentials (SEPs) to investigate the temporal dynamics of mirroring highly self-related …
Time and spatial attention: Effects of prism adaptation on temporal deficits in brain damaged patients
2011
Growing evidence indicates that the representations of space and time interact in the brain but the exact neural correlates of such interaction remain unknown. Neuroimaging and neuropsychological studies show that processing of temporal information engages a distributed network in the right hemisphere and suggest a link between deficits in spatial attention and deficits in time perception. In the present study we used the procedure of prismatic adaptation (PA) to directionally manipulate spatial attention in order to explore the effect of attentional deviation on time perception in patients with right (RBD) vs. left (LBD) brain damage. In a first experiment, two groups of RBD and LBD patien…