Search results for "P300"

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disord…

2019

Rubinstein–Taybi syndrome (RSTS) is an autosomal-dominant neurodevelopmental disease affecting 1:125,000 newborns characterized by intellectual disability, growth retardation, facial dysmorphisms and skeletal abnormalities. RSTS is caused by mutations in genes encoding for writers of the epigenetic machinery: CREBBP (~ 60%) or its homologous EP300 (~ 10%). No causative mutation is identified in up to 30% of patients. We performed whole-exome sequencing (WES) on eight RSTS-like individuals who had normal high-resolution array CGH testing and were CREBBP- and EP300-mutation -negative, to identify the molecular cause. In four cases, we identified putatively causal variants in three genes (ASXL…

FM19G11, a New Hypoxia-inducible Factor (HIF) Modulator, Affects Stem Cell Differentiation Status

2009

The biology of the alpha subunits of hypoxia-inducible factors (HIF alpha) has expanded from their role in angiogenesis to their current position in the self-renewal and differentiation of stem cells. The results reported in this article show the discovery of FM19G11, a novel chemical entity that inhibits HIF alpha proteins that repress target genes of the two alpha subunits, in various tumor cell lines as well as in adult and embryonic stem cell models from rodents and humans, respectively. FM19G11 inhibits at nanomolar range the transcriptional and protein expression of Oct4, Sox2, Nanog, and Tgf-alpha undifferentiating factors, in adult rat and human embryonic stem cells, FM19G11 activit…

Composing only by thought: Novel application of the P300 brain-computer interface.

2017

The P300 event-related potential is a well-known pattern in the electroencephalogram (EEG). This kind of brain signal is used for many different brain-computer interface (BCI) applications, e.g., spellers, environmental controllers, web browsers, or for painting. In recent times, BCI systems are mature enough to leave the laboratories to be used by the end-users, namely severely disabled people. Therefore, new challenges arise and the systems should be implemented and evaluated according to user-centered design (USD) guidelines. We developed and implemented a new system that utilizes the P300 pattern to compose music. Our Brain Composing system consists of three parts: the EEG acquisition d…

In vivo GSH depletion induces c-myc expression by modulation of chromatin protein complexes.

2009

Abstract We hypothesize that glutathione (GSH) fluctuations could have a prominent role in the modulation of c-myc expression through a mechanism affecting chromatin remodeling complexes. This could lead to an open chromatin structure accessible to transcription factors. We studied the in vivo effect of GSH depletion on these complexes bound to the c-myc promoter in the liver of l-buthionine-(S,R)-sulfoximine (BSO)-treated rats. Using chromatin immunoprecipitation we found that 3 h after BSO treatment the repressing complexes Id2 and Sin3A (part of a histone–deacetylase complex) were released from the c-myc promoter. STAT3 was phosphorylated and associated with its coactivator p300 with int…

Fast measurement of auditory event-related potential profiles in 2–3-year-olds

2012

Auditory discrimination, memory, and attention-related functions were investigated in healthy 2-3-year-olds by recording event-related potentials (ERPs) to changes in five auditory features and two types of novel sounds using the fast multifeature paradigm (MFP). ERP profiles consisting of the mismatch negativity (MMN), P3a, and prominent late discriminative negativities (LDN) were obtained, for the first time, from this age group in a considerably shorter time compared to the traditional paradigms. Statistically significant responses from individual children were obtained mainly for the novel sounds. Thus, the MFP shows promise as a time-efficient paradigm for investigating central auditor…

Visual Attention Study in Youth With Spastic Cerebral Palsy Using the Event-Related Potential Method

2011

Youth with mild spastic cerebral palsy (n = 14) and a peer control group were compared on an oddball paradigm. Here, visual stimuli were presented with low and high probability and participants were instructed to count in silence the number of rare stimuli. The infrequent stimulus typically elicits an enhanced frontal central N2 and a centroparietal P300 event-related brain potential, reflecting orientation and evaluation of stimulus novelty. No differences in latency and amplitude of the N2–P300 complex were found between the 2 groups, indicating that some fundamental attention processes are intact in youth with mild spastic cerebral palsy.

Rubinstein–Taybi syndrome 2 with cerebellar abnormality and neural tube defect

2019

Rubinstein-Taybi syndrome (RSTS) is a rare dominant disorder with intellectual disability, postnatal growth deficiency, and multiple congenital anomalies. Approximately 50-70% of the patients have a mutation in the CREBBP gene (RSTS1) and 5-10% display an EP300 gene mutation (RSTS2). Craniospinal abnormalities such as microcranium, scoliosis, and lordosis are frequent findings in RSTS1, but malformations of the brain or spinal cord are seen only occasionally. Here, we report on a 3-year-old boy with facial abnormalities of RSTS, broad thumbs and halluces, developmental delay, autistic features, cerebellar underdevelopment, and a neural tube defect. Molecular diagnostic of the CREBBP and EP3…

Potencials evocats (p300, n400 i n200) i paràmetres roc i de la tds aplicats a components implícits de la memòria

2013

The Role of Low Complexity Regions in Protein Interaction Modes: An Illustration in Huntingtin

2021

Low complexity regions (LCRs) are very frequent in protein sequences, generally having a lower propensity to form structured domains and tending to be much less evolutionarily conserved than globular domains. Their higher abundance in eukaryotes and in species with more cellular types agrees with a growing number of reports on their function in protein interactions regulated by post-translational modifications. LCRs facilitate the increase of regulatory and network complexity required with the emergence of organisms with more complex tissue distribution and development. Although the low conservation and structural flexibility of LCRs complicate their study, evolutionary studies of proteins …

Indirect assessment of an interpretation bias in humans: Neurophysiological and behavioral correlates

2013

Affective state can influence cognition leading to biased information processing, interpretation, attention, and memory. Such bias has been reported to be essential for the onset and maintenance of different psychopathologies, particularly affective disorders. However, empirical evidence has been very heterogeneous and little is known about the neurophysiological mechanisms underlying cognitive bias and its time-course. We therefore investigated the interpretation of ambiguous stimuli as indicators of biased information processing with an ambiguous cue-conditioning paradigm. In an acquisition phase, participants learned to discriminate two tones of different frequency, which acquired emotio…