6,784 research outputs found
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Human in vitro models for understanding mechanisms of autism spectrum disorder.
Early brain development is a critical epoch for the development of autism spectrum disorder (ASD). In vivo animal models have, until recently, been the principal tool used to study early brain development and the changes occurring in neurodevelopmental disorders such as ASD. In vitro models of brain development represent a significant advance in the field. Here, we review the main methods available to study human brain development in vitro and the applications of these models for studying ASD and other psychiatric disorders. We discuss the main findings from stem cell models to date focusing on cell cycle and proliferation, cell death, cell differentiation and maturation, and neuronal signaling and synaptic stimuli. To be able to generalize the results from these studies, we propose a framework of experimental design and power considerations for using in vitro models to study ASD. These include both technical issues such as reproducibility and power analysis and conceptual issues such as the brain region and cell types being modeled
Autism genetics: searching for specificity and convergence.
Advances in genetics and genomics have improved our understanding of autism spectrum disorders. As many genes have been implicated, we look to points of convergence among these genes across biological systems to better understand and treat these disorders
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Gene expression in human brain implicates sexually dimorphic pathways in autism spectrum disorders.
Autism spectrum disorder (ASD) is more prevalent in males, and the mechanisms behind this sex-differential risk are not fully understood. Two competing, but not mutually exclusive, hypotheses are that ASD risk genes are sex-differentially regulated, or alternatively, that they interact with characteristic sexually dimorphic pathways. Here we characterized sexually dimorphic gene expression in multiple data sets from neurotypical adult and prenatal human neocortical tissue, and evaluated ASD risk genes for evidence of sex-biased expression. We find no evidence for systematic sex-differential expression of ASD risk genes. Instead, we observe that genes expressed at higher levels in males are significantly enriched for genes upregulated in post-mortem autistic brain, including astrocyte and microglia markers. This suggests that it is not sex-differential regulation of ASD risk genes, but rather naturally occurring sexually dimorphic processes, potentially including neuron-glial interactions, that modulate the impact of risk variants and contribute to the sex-skewed prevalence of ASD
Die Rose und der Winter
Wenn ich irgendwo den Ausspruch gethan habe: "RosensĂ€mlinge zĂŒchten ist sehr leicht, aber sie alle zum BlĂŒhen bringen unmöglich", so hĂ€tte ich zuvor sagen sollen: "Rosen besitzen kann Jedermann, sie dauernd gesund rhaelten und schadlos durchwintern Niemand!" ..
Research of metal solidification in zero-g state
An experiment test apparatus that allows metal melting and resolidification in the three seconds available during free fall in a drop tower was built and tested in the tower. Droplets (approximately 0.05 cm) of pure nickel and 1090 steel were prepared in this fashion. The apparatus, including instrumentation, is described. As part of the instrumentation, a method for measuring temperature-time histories of the free floating metal droplets was developed. Finally, a metallurgical analysis of the specimens prepared in the apparatus is presented
From Paper to Pixels: A Usability Study of a Tsunami Safety E-Booklet
See tsunami safety e-booklet at http://bit.ly/tsunamilayoutMore people have died in Hawaiâi from tsunamis than from hurricanes, floods, and volcanoes combined, making it our Stateâs most deadly natural hazard. For tsunami education to be effective, especially in younger audiences, learners must be engaged through multiple modalities. To help meet this need, a printed tsunami safety booklet has been modernized to an e-booklet format. Using a turtle superhero as a guide, the Hawaii tsunami safety e-booklet (http://bit.ly/tsunamilayout) helps educate 3rd through 5th grade students about tsunami hazards, preparedness, evacuation, warning, and risk. A research study was designed to evaluate the content, effectiveness, and user satisfaction of the interactive e-booklet through iterative usability testing. Two rounds of testing were conducted face-to-face and through Google Hangouts on Air where participants âthought out loudâ as they explored the e-booklet content. Additional feedback was captured asynchronously through a survey link on each page of the e-booklet. A post-study captured additional attitudinal data. Changes were made to portions of the e-booklet focusing on the participantsâ recommendations which included immediate audio and visual feedback, increased control over multimedia, personalization, and gamification. Feedback from the second round of usability testing indicated that improvements made to the e-booklet augmented the overall user experience
Autism: Many Genes, Common Pathways?
Autism is a heterogeneous neurodevelopmental syndrome with a complex genetic etiology. It is still not clear whether autism comprises a vast collection of different disorders akin to intellectual disability or a few disorders sharing common aberrant pathways. Unifying principles among cases of autism are likely to be at the level of brain circuitry in addition to molecular pathways
The Autism Related Protein Contactin-Associated Protein-Like 2 (CNTNAP2) Stabilizes New Spines: An In Vivo Mouse Study.
The establishment and maintenance of neuronal circuits depends on tight regulation of synaptic contacts. We hypothesized that CNTNAP2, a protein associated with autism, would play a key role in this process. Indeed, we found that new dendritic spines in mice lacking CNTNAP2 were formed at normal rates, but failed to stabilize. Notably, rates of spine elimination were unaltered, suggesting a specific role for CNTNAP2 in stabilizing new synaptic circuitry
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