Varaico: Literature-Extracted Genetic Variants

Gene:NLGN3
Variant:p.R471C
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NLGN3

NM_181303.2:p.R471C

Associated Papers

Analyses of Human Genetic Data to Identify Clinically Relevant Domains of Neuroligins.

Lehr AW et al.

Genes, 2024

Cerebellar impairments in genetic models of autism spectrum disorders: A neurobiological perspective.

Yenkoyan K et al.

Progress in Neurobiology, 2024

Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiency.

Oleari R et al.

Disease Models & Mechanisms, 2023

Expression and structural analysis of human neuroligin 2 and neuroligin 3 implicated in autism spectrum disorders.

Zhang Z et al.

Frontiers in Endocrinology, 2022

Genetic analysis of the postsynaptic transmembrane X-linked neuroligin 3 gene in autism.

Hegde R et al.

Genomics & Informatics, 2021

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment.

Quartier A et al.

Human Mutation, 2019

Not all neuroligin 3 and 4X missense variants lead to significant functional inactivation.

Xu X et al.

Brain and Behavior, 2017

Using Gene Ontology to describe the role of the neurexin-neuroligin-SHANK complex in human, mouse and rat and its relevance to autism.

Patel S et al.

Bmc Bioinformatics, 2015

Novel interactive partners of neuroligin 3: new aspects for pathogenesis of autism.

Shen C et al.

Journal of Molecular Neuroscience : Mn, 2015

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

Redin C et al.

Journal of Medical Genetics, 2014

25167861 (PubMed )
Supplement: jmedgenet-2014-102554-s1.pdf

Mutation screening in the Greek population and evaluation of NLGN3 and NLGN4X genes causal factors for autism.

Volaki K et al.

Psychiatric Genetics, 2013

XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.

Piton A et al.

American Journal of Human Genetics, 2013

Homodimerization and isoform-specific heterodimerization of neuroligins.

Poulopoulos A et al.

The Biochemical Journal, 2012

Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder.

Yanagi K et al.

Autism Research and Treatment, 2012

Genetic controls balancing excitatory and inhibitory synaptogenesis in neurodevelopmental disorder models.

Gatto CL et al.

Frontiers in Synaptic Neuroscience, 2010

A substitution involving the NLGN4 gene associated with autistic behavior in the Greek population.

Pampanos A et al.

Genetic Testing and Molecular Biomarkers, 2009

Altered synchrony and connectivity in neuronal networks expressing an autism-related mutation of neuroligin 3.

Gutierrez RC et al.

Neuroscience, 2009

Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism.

Talebizadeh Z et al.

Journal of Medical Genetics, 2006

A mutation linked with autism reveals a common mechanism of endoplasmic reticulum retention for the alpha,beta-hydrolase fold protein family.

De Jaco A et al.

The Journal of Biological Chemistry, 2006

The Arg473Cys-neuroligin-1 mutation modulates NMDA mediated synaptic transmission and receptor distribution in hippocampal neurons.

Khosravani H et al.

Febs Letters, 2005

Dissection of synapse induction by neuroligins: effect of a neuroligin mutation associated with autism.

Chubykin AA et al.

The Journal of Biological Chemistry, 2005

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."