Correction: Functional significance of rare neuroligin 1 variants found in autism

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Functional significance of rare neuroligin 1 variants found in autism

Genetic mutations contribute to the etiology of autism spectrum disorder (ASD), a common, heterogeneous neurodevelopmental disorder characterized by impairments in social interaction, communication, and repetitive and restricted patterns of behavior. Since neuroligin3 (NLGN3), a cell adhesion molecule at the neuronal synapse, was first identified as a risk gene for ASD, several additional varia...

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Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder

UNLABELLED 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 up to 15% ASD, genome-wide association studies have failed to uncover common single nucleotide variants with large effects on phenotype. The focus within ASD genetics is now shifting to the exami...

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Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder

BACKGROUND Autism spectrum disorder (ASD) is reported in 30 to 60% of patients with tuberous sclerosis complex (TSC) but shared genetic mechanisms that exist between TSC-associated ASD and idiopathic ASD have yet to be determined. Through the small G-protein Rheb, the TSC proteins, hamartin and tuberin, negatively regulate mammalian target of rapamycin complex 1 (mTORC1) signaling. It is well e...

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Multiple rare variants in the etiology of autism spectrum disorders

Recent studies in autism spectrum disorders (ASDs) support an important role for multiple rare variants in these conditions. This is a clinically important finding, as, with the demonstration that a significant proportion of ASDs are the result of rare, etiological genetic variants, it becomes possible to make use of genetic testing to supplement behavioral analyses for an earlier diagnosis. As...

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ژورنال

عنوان ژورنال: PLOS Genetics

سال: 2017

ISSN: 1553-7404

DOI: 10.1371/journal.pgen.1007035