...Patrick D. Skelton; Radu V. Stan; Bryan W. Luikart PTEN is a lipid and protein phosphatase that regulates cell growth and survival. Mutations to PTEN are highly penetrant for autism spectrum disorder (ASD). Here, we briefly review the evidence linking PTEN mutations to ASD and the mouse models...

... development – and even lethality in the case of Meckel syndrome. Genetic studies have also implicated RPGRIP1L in psychiatric disorders by suggestive findings from genome-wide association studies and findings from rare-variant exome analyses for bipolar disorder and de novo mutations in autism. In this study...

.... We suggest that RDoC may have value for understanding normal human psychology and some conditions plausibly construed as extremes of normal variation. By contrast, for the most serious of mental illnesses, including dementia, autism, schizophrenia, and bipolar disorder, we argue that RDoC...

... drug discovery in CNS disorders. Autism Molecular imaging Neuroscience Synaptogenesis Therapeutic discovery © 2017 S. Karger AG, Basel 2017 Copyright / Drug Dosage / Disclaimer Copyright: All rights reserved. No part of this publication may be translated into other languages...

... or misfolded proteins in the ER lumen called ER stress. A number of recent studies suggest that mutations in autism spectrum disorder (ASD)-susceptible synaptic genes induce ER stress. However, it is not known whether ER stress-related genes are altered in the brain of ASD subjects. In the present study, we...

...Kimberly A. Mulligan; Benjamin N.R. Cheyette Mounting evidence indicates that Wnt signaling is relevant to pathophysiology of diverse mental illnesses including schizophrenia, bipolar disorder, and autism spectrum disorder. In the 35 years since Wnt ligands were first described, animal studies have...

..., instructions or products referred to in the content or advertisements. Copy number variants Induced pluripotent stem cells 15q11.2-q13 Schizophrenia Intellectual disability Autism National Institutes of Health (NIH) 10.13039/100000002 The proximal long arm of chromosome 15...