Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

By Hal Authorization, S. Jamain, H. Quach, C. Betancur, M. Råstam, C. Colineaux, C. Gillberg, Henrik Söderström, B. Giros, I. Gillberg and 10 more. Nature Genetics, 2003

1,840 citations recorded by the source corpus.

Subfields: Cognitive Neuroscience, Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/592f4516cac94829165cfdfef606200acdcac176

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Citations in the corpus

Early behavioral intervention, brain plasticity, and the prevention of autism spectrum disorder (2008, background): “Rare mutations in the neuroligin 3 and neuroligin 4 genes have been found individuals with autism (Jamain et al., 2003).”
Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2 (2012, background): “(2) Flat: duration longer than 5 ms and frequency range # 6.”
Mapping autism risk loci using genetic linkage and chromosomal rearrangements (2007, neutral): “Familial recurrent CNVs (number of regions)i 28 (14) 16 (8) 14 (7)”
Neurexin-neuroligin signaling in synapse development. (2007, background): “More detailed analyses of the neuroligin knockout mice might provide further important information, especially considering their potential as animal models of autism spectrum disorders [12].”
Common circuit defect of excitatory-inhibitory balance in mouse models of autism (2009, positive): “We then compared PV-cell anomalies in the brain by immunostaining of VPA-treated mice and a representative single-gene mutant of Neuroligin-3 (NL-3 R451C) reported to exhibit autistic features [28] concomitant with enhanced cortical inhibitory synapse function [6].”
New friendly tools for users of ESTHER, the database of the alpha/beta-hydrolase fold superfamily of proteins. (2005, background): “Of these, mutations in the neuroligin genes have been found to be associated with autism disorders [11] and mutations in the maspardin gene to be important in Mast Syndrome [12].”
A genome-wide scan for common alleles affecting risk for autism (2010, background): “Rare deletion CNVs of SHANK3 and the surrounding 22q13.”
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism (2013, positive): “…have not yet led to reproducible results (State and Levitt, 2011), the identification of the important contribution of rare de novo mutations (Jamain et al., 2003; Sanders et al., 2011; Sebat et al., 2007) combined with high-throughput sequencing technology has recently led to the systematic…”