[HTML][HTML] Identification of candidate intergenic risk loci in autism spectrum disorder
S Walker, SW Scherer - BMC genomics, 2013 - Springer
Abstract Background Copy number variations (CNVs) and DNA sequence alterations
affecting specific neuronal genes are established risk factors for Autism Spectrum Disorder …
affecting specific neuronal genes are established risk factors for Autism Spectrum Disorder …
[HTML][HTML] Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits
O Peñagarikano, BS Abrahams, EI Herman… - Cell, 2011 - cell.com
Although many genes predisposing to autism spectrum disorders (ASD) have been
identified, the biological mechanism (s) remain unclear. Mouse models based on human …
identified, the biological mechanism (s) remain unclear. Mouse models based on human …
NRF2, KEAP1 and GSK-3 levels in autism spectrum disorder: a case control study
Recent studies show that oxidative stress has an important role in the etiology of autism. In
our study, Nrf2, which is the main regulator of cellular antioxidant response, and Keap1 and …
our study, Nrf2, which is the main regulator of cellular antioxidant response, and Keap1 and …
[HTML][HTML] Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression
Purpose: The purpose of the current study was to assess the penetrance of NRXN1
deletions. Methods: We compared the prevalence and genomic extent of NRXN1 deletions …
deletions. Methods: We compared the prevalence and genomic extent of NRXN1 deletions …
A critical review of the impact of candidate copy number variants on autism spectrum disorders
SS Abedini, S Akhavan, J Heng, R Alizadehsani… - arXiv preprint arXiv …, 2023 - arxiv.org
Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder (NDD)
that is caused by genetic, epigenetic, and environmental factors. Recent advances in …
that is caused by genetic, epigenetic, and environmental factors. Recent advances in …
Profiling allele-specific gene expression in brains from individuals with autism spectrum disorder reveals preferential minor allele usage
One fundamental but understudied mechanism of gene regulation in disease is allele-
specific expression (ASE), the preferential expression of one allele. We leveraged RNA …
specific expression (ASE), the preferential expression of one allele. We leveraged RNA …
The NO answer for autism spectrum disorder
MK Tripathi, SK Ojha, M Kartawy, W Hamoudi… - Advanced …, 2023 - Wiley Online Library
Autism spectrum disorders (ASDs) include a wide range of neurodevelopmental disorders.
Several reports showed that mutations in different high‐risk ASD genes lead to ASD …
Several reports showed that mutations in different high‐risk ASD genes lead to ASD …
Neurexin 1 (NRXN1) splice isoform expression during human neocortical development and aging
AK Jenkins, C Paterson, Y Wang, TM Hyde… - Molecular …, 2016 - nature.com
Abstract Neurexin 1 (NRXN1), a presynaptic cell adhesion molecule, is implicated in several
neurodevelopmental disorders characterized by synaptic dysfunction including autism …
neurodevelopmental disorders characterized by synaptic dysfunction including autism …
Mutation and evolutionary analyses identify NR2E1‐candidate‐regulatory mutations in humans with severe cortical malformations
RA Kumar, S Leach, R Bonaguro… - Genes, Brain and …, 2007 - Wiley Online Library
Nuclear receptor 2E1 (NR2E1) is expressed in human fetal and adult brains; however, its
role in human brain–behavior development is unknown. Previously, we have corrected the …
role in human brain–behavior development is unknown. Previously, we have corrected the …
[HTML][HTML] Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder
Background Autism spectrum disorder (ASD) is highly heritable, but the genetic risk factors
for it remain largely unknown. Although structural variants with large effect sizes may explain …
for it remain largely unknown. Although structural variants with large effect sizes may explain …