Varaico: Literature-Extracted Genetic Variants

Gene:NLGN4X
Variant:p.R704C
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NLGN4X

NM_181332.3:p.R704C

Associated Papers

Structural Insights into Protein Mutations Related to Autism Spectrum Disorders: A Systematic Review.

Das MR et al.

Acs Chemical Neuroscience, 2025

Autism Spectrum Disorder: The Cerebellum, Genes, and Pathways.

D'Mello SR

Neurology International, 2025

Integrating epidemiology and genomics data to estimate the prevalence of acquired cysteine drug targets in the U.S. cancer patient population.

Arun AS et al.

The Pharmacogenomics Journal, 2025

40044654 (PubMed )
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Analyses of Human Genetic Data to Identify Clinically Relevant Domains of Neuroligins.

Lehr AW et al.

Genes, 2024

Regulation of NLGN3 and the Synaptic Rho-GEF Signaling Pathway by CDK5.

Jeong J et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2023

The Potential Role of AMPA Receptor Trafficking in Autism and Other Neurodevelopmental Conditions.

Niescier RF et al.

Neuroscience, 2021

Pathogenic paternally inherited NLGN4X deletion in a female with autism spectrum disorder: Clinical, cytogenetic, and molecular characterization.

Kopp N et al.

American Journal of Medical Genetics. Part A, 2021

An Autism-Associated Mutation Impairs Neuroligin-4 Glycosylation and Enhances Excitatory Synaptic Transmission in Human Neurons.

Cast TP et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2021

Human stem cell-based models for studying autism spectrum disorder-related neuronal dysfunction.

Cheffer A et al.

Molecular Autism, 2020

Autism-associated variants of neuroligin 4X impair synaptogenic activity by various molecular mechanisms.

Yumoto T et al.

Molecular Autism, 2020

Modeling neuronal consequences of autism-associated gene regulatory variants with human induced pluripotent stem cells.

Ross PJ et al.

Molecular Autism, 2020

Neuroligins and Neurodevelopmental Disorders: X-Linked Genetics.

Nguyen TA et al.

Frontiers in Synaptic Neuroscience, 2020

Autism Spectrum Disorder and miRNA: An Overview of Experimental Models.

Schepici G et al.

Brain Sciences, 2019

Neuroligin-4 Regulates Excitatory Synaptic Transmission in Human Neurons.

Marro SG et al.

Neuron, 2019

Glutamatergic synapses in neurodevelopmental disorders.

Moretto E et al.

Progress in Neuro-psychopharmacology & Biological Psychiatry, 2018

Functional significance of rare neuroligin 1 variants found in autism.

Nakanishi M et al.

Plos Genetics, 2017

Functions of synapse adhesion molecules neurexin/neuroligins and neurodevelopmental disorders.

Cao X et al.

Neuroscience Research, 2017

Pathogenic mechanism of an autism-associated neuroligin mutation involves altered AMPA-receptor trafficking.

Chanda S et al.

Molecular Psychiatry, 2016

Excitatory/Inhibitory Balance and Circuit Homeostasis in Autism Spectrum Disorders.

Nelson SB et al.

Neuron, 2015

Autism-associated mutation inhibits protein kinase C-mediated neuroligin-4X enhancement of excitatory synapses.

Bemben MA et al.

Proceedings of the National Academy of Sciences of the United States of America, 2015

Mouse models of mutations and variations in autism spectrum disorder-associated genes: mice expressing Caps2/Cadps2 copy number and alternative splicing variants.

Sadakata T et al.

International Journal of Environmental Research and Public Health, 2013

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

Volaki K et al.

Psychiatric Genetics, 2013

Autism genetics.

Persico AM et al.

Behavioural Brain Research, 2013

Neurexins.

Reissner C et al.

Genome Biology, 2013

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

An autism-associated point mutation in the neuroligin cytoplasmic tail selectively impairs AMPA receptor-mediated synaptic transmission in hippocampus.

Etherton MR et al.

The Embo Journal, 2011

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

Pampanos A et al.

Genetic Testing and Molecular Biomarkers, 2009

Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist.

Lintas C et al.

Journal of Medical Genetics, 2009

Familial deletion within NLGN4 associated with autism and Tourette syndrome.

Lawson-Yuen A et al.

European Journal of Human Genetics : Ejhg, 2008

Resequencing and association analysis of coding regions at twenty candidate genes suggest a role for rare risk variation at AKAP9 and protective variation at NRXN1 in schizophrenia susceptibility.

Suárez-Rama JJ et al.

Journal of Psychiatric Research, 0

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