Search results for "PPI"
showing 10 items of 7396 documents
Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies
2012
Contains fulltext : 110038.pdf (Publisher’s version ) (Closed access) Potocki-Shaffer syndrome (PSS) is a contiguous gene disorder due to the interstitial deletion of band p11.2 of chromosome 11 and is characterized by multiple exostoses, parietal foramina, intellectual disability (ID), and craniofacial anomalies (CFAs). Despite the identification of individual genes responsible for multiple exostoses and parietal foramina in PSS, the identity of the gene(s) associated with the ID and CFA phenotypes has remained elusive. Through characterization of independent subjects with balanced translocations and supportive comparative deletion mapping of PSS subjects, we have uncovered evidence that t…
Large-scale network architecture and associated structural cortico-subcortical abnormalities in patients with sleep/awake-related seizures.
2019
Study objectives In this study, we aimed to estimate the alterations of brain networks and structural integrity linked to seizure occurrence during sleep and awake states. Methods Using a graph theory approach to magnetic resonance imaging-derived volumes of cortical and subcortical regions, we investigated the topological organization of structural networks in patients with sleep seizures (n = 13), patients with awake seizures (n = 12), and age- and sex-matched healthy controls (n = 10). Abnormalities in regional structural substrates (cortical volume/surface area, subcortical volumes) associated with sleep seizures and awake seizures were further analyzed. Results Brain networks in patien…
Replication of fMRI group activations in the neuroimaging battery for the Mainz Resilience Project (MARP)
2020
Abstract Motivated by the recent replicability crisis we tested replicability of functional magnetic resonance imaging (fMRI) group activations in two independent samples. An identical behavioral and fMRI test battery for the longitudinal investigation of stress resilience mechanisms was developed for the Mainz Resilience Project (MARP) and conducted in a discovery (N = 54) and a replication sample (N = 103). The test battery consisted of a stress reactivity task, a reward sensitivity task, a fear conditioning and extinction paradigm, two volitional reappraisal tasks and an emotional interference inhibition task. Replicability of group activations was tested with the Jaccard index and the I…
Mutation analyses in 17 patients with deficiency in acid β-galactosidase: three novel point mutations and high correlation of mutation W273L with Mor…
2001
An inherited deficiency in beta-galactosidase can result in GM1 gangliosidosis, with several phenotypes of generalized or chronic psychomotor deterioration, as well as in Morquio disease type B, a characteristic mucopolysaccharidosis free of neurological symptoms. We performed mutation analyses in 17 juvenile and adult patients from various European regions with a deficiency in beta-galactosidase and skeletal abnormalities. Fifteen of these had the Morquio B phenotype and have remained neurologically healthy until now while the two others exhibited psychomotor retardation of juvenile onset. A two-base substitution (851-852TG--CT; W273L) was present in 14 of the 15 Morquio B cases. Even if o…
Neural substrates of the interaction of emotional stimulus processing and motor inhibitory control: an emotional linguistic go/no-go fMRI study.
2007
Neural substrates of behavioral inhibitory control have been probed in a variety of animal model, physiologic, behavioral, and imaging studies, many emphasizing the role of prefrontal circuits. Likewise, the neurocircuitry of emotion has been investigated from a variety of perspectives. Recently, neural mechanisms mediating the interaction of emotion and behavioral regulation have become the focus of intense study. To further define neurocircuitry specifically underlying the interaction between emotional processing and response inhibition, we developed an emotional linguistic go/no-go fMRI paradigm with a factorial block design which joins explicit inhibitory task demand (i.e., go or no-go)…
Effects of achievement goals on perceptions of competence in conditions of unfavourable social comparisons: The mastery goal advantage effect
2017
Background Previous prospective studies have documented that mastery-approach goals are adaptive because they facilitate less negative psychological responses to unfavourable social comparisons than performance-approach goals. Aims This study aimed to confirm this so-called ‘mastery goal advantage’ effect experimentally. Methods A 2 × 3 design was adopted where achievement goals (mastery vs. performance) and normative information (favourable vs. no-normative information vs. unfavourable) were manipulated as between participant factors. Sample Participants were 201 undergraduates, 57 males and 144 females, ranging in age from 17 to 55 years (Mage = 22.53, SD = 6.51). Results Regression analy…
Left insular cortex and left SFG underlie prismatic adaptation effects on time perception: Evidence from fMRI
2014
Prismatic adaptation (PA) has been shown to affect left-to-right spatial representations of temporal durations. A leftward aftereffect usually distorts time representation toward an underestimation, while rightward aftereffect usually results in an overestimation of temporal durations. Here, we used functional magnetic resonance imaging (fMRI) to study the neural mechanisms that underlie PA effects on time perception. Additionally, we investigated whether the effect of PA on time is transient or stable and, in the case of stability, which cortical areas are responsible of its maintenance. Functional brain images were acquired while participants (n = 17) performed a time reproduction task an…
Generalization gradients for fear and disgust in human associative learning
2021
AbstractPrevious research indicates that excessive fear is a critical feature in anxiety disorders; however, recent studies suggest that disgust may also contribute to the etiology and maintenance of some anxiety disorders. It remains unclear if differences exist between these two threat-related emotions in conditioning and generalization. Evaluating different patterns of fear and disgust learning would facilitate a deeper understanding of how anxiety disorders develop. In this study, 32 college students completed threat conditioning tasks, including conditioned stimuli paired with frightening or disgusting images. Fear and disgust were divided into two randomly ordered blocks to examine di…
An emotional Stroop task with faces and words. A comparison of young and older adults
2017
Abstract Antecedents Given the contradictions of previous studies on the changes in attentional responses produced in aging a Stroop emotional task was proposed to compare young and older adults to words or faces with an emotional valence. Method The words happy or sad were superimposed on faces that express the emotion of happiness or sadness. The emotion expressed by the word and the face could agree or not (cued and uncued trials, respectively). 85 young and 66 healthy older adults had to identify both faces and words separately, and the interference between the two types of stimuli was examined. Results An interference effect was observed for both types of stimuli in both groups. There …
Reaction and Movement Times in Men of Different Ages: A Population Study
1986
Tests of psychomotor and motor speed at different levels of complexity were studied in random samples of men aged 31 to 35, 51 to 55, and 71 to 75 yr. The study was performed as a part of a larger research project on health and functional aging. Analyses indicated significantly slower responses among older men at all levels of test complexity (maximal knee extension velocity, tapping rate, simple and choice reaction and movement times). There were marked differences both between the youngest and the middle-aged groups and between the middle-aged and the oldest groups. Within the age groups high psychomotor and motor speed were associated with a favourable functioning of certain senses (vib…