Genetics of autism spectrum disorders

DH Geschwind - Trends in cognitive sciences, 2011 - cell.com
Characterized by a combination of abnormalities in language, social cognition and mental
flexibility, autism is not a single disorder but a neurodevelopmental syndrome commonly …

Functional consequences of developmentally regulated alternative splicing

A Kalsotra, TA Cooper - Nature Reviews Genetics, 2011 - nature.com
Genome-wide analyses of metazoan transcriptomes have revealed an unexpected level of
mRNA diversity that is generated by alternative splicing. Recently, regulatory networks have …

Optimizing de novo transcriptome assembly from short-read RNA-Seq data: a comparative study

QY Zhao, Y Wang, YM Kong, D Luo, X Li, P Hao - BMC bioinformatics, 2011 - Springer
Background With the fast advances in nextgen sequencing technology, high-throughput
RNA sequencing has emerged as a powerful and cost-effective way for transcriptome study …

Emerging roles of TET proteins and 5-hydroxymethylcytosines in active DNA demethylation and beyond

JU Guo, Y Su, C Zhong, G Ming, H Song - Cell cycle, 2011 - Taylor & Francis
Cytosine methylation is the major epigenetic modification of metazoan DNA. Although there
is strong evidence that active DNA demethylation occurs in animal cells, the molecular …

The conundrums of understanding genetic risks for autism spectrum disorders

MW State, P Levitt - Nature neuroscience, 2011 - nature.com
Recent advances in the genetics of autism spectrum disorders (ASDs) are offering new
valuable insights into molecular and cellular mechanisms of pathology. At the same time, the …

IL-1 receptor accessory protein-like 1 associated with mental retardation and autism mediates synapse formation by trans-synaptic interaction with protein tyrosine …

T Yoshida, M Yasumura, T Uemura, SJ Lee… - Journal of …, 2011 - Soc Neuroscience
Mental retardation (MR) and autism are highly heterogeneous neurodevelopmental
disorders. IL-1-receptor accessory protein-like 1 (IL1RAPL1) is responsible for …

Functional genomic analyses identify pathways dysregulated by progranulin deficiency, implicating Wnt signaling

EY Rosen, EM Wexler, R Versano, G Coppola, F Gao… - Neuron, 2011 - cell.com
Progranulin (GRN) mutations cause frontotemporal dementia (FTD), but GRN's function in
the CNS remains largely unknown. To identify the pathways downstream of GRN, we used …

Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for …

R Hochstenbach, JE Buizer-Voskamp… - … and genome research, 2011 - karger.com
We review the contributions and limitations of genome-wide array-based identification of
copy number variants (CNVs) in the clinical diagnostic evaluation of patients with mental …

Autism-associated gene expression in peripheral leucocytes commonly observed between subjects with autism and healthy women having autistic children

Y Kuwano, Y Kamio, T Kawai, S Katsuura, N Inada… - PloS one, 2011 - journals.plos.org
Autism spectrum disorder (ASD) is a severe neuropsychiatric disorder which has complex
pathobiology with profound influences of genetic factors in its development. Although the …

Expression profiling of autism candidate genes during human brain development implicates central immune signaling pathways

MN Ziats, OM Rennert - PloS one, 2011 - journals.plos.org
The Autism Spectrum Disorders (ASD) represent a clinically heterogeneous set of conditions
with strong hereditary components. Despite substantial efforts to uncover the genetic basis …