(Q41522992)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28841651%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

title

Functional significance of rare neuroligin 1 variants found in autism (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28841651%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

0 references

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28841651%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

author name string

Moe Nakanishi

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28841651%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

Jun Nomura

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28841651%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

Xiao Ji

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28841651%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

Kota Tamada

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28841651%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

Takashi Arai

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28841651%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

Eiki Takahashi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28841651%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

Maja Bućan

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28841651%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

publication date

25 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28841651%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28841651%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

volume

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28841651%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28841651%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

page(s)

e1006940

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28841651%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

28 March 2020

copyright license

start time

25 August 2017

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Increased burden of deleterious variants in essential genes in autism spectrum disorder

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Conditional ablation of neuroligin-1 in CA1 pyramidal neurons blocks LTP by a cell-autonomous NMDA receptor-independent mechanism

6 June 2018

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6 June 2018

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6 June 2018

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Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

6 June 2018

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6 June 2018

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Neuroligin 1 modulates striatal glutamatergic neurotransmission in a pathway and NMDAR subunit-specific manner

6 June 2018

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6 June 2018

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Trans-synaptic zinc mobilization improves social interaction in two mouse models of autism through NMDAR activation

6 June 2018

1 reference

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Excess of rare, inherited truncating mutations in autism

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

The contribution of de novo coding mutations to autism spectrum disorder

6 June 2018

1 reference

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Synaptic, transcriptional and chromatin genes disrupted in autism

6 June 2018

1 reference

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Genomic and genetic aspects of autism spectrum disorder

6 June 2018

1 reference

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Prevalence of autism spectrum disorder among children aged 8 years - autism and developmental disabilities monitoring network, 11 sites, United States, 2010

6 June 2018

1 reference

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A general framework for estimating the relative pathogenicity of human genetic variants

6 June 2018

1 reference

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Epigenetic suppression of neuroligin 1 underlies amyloid-induced memory deficiency

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Genic intolerance to functional variation and the interpretation of personal genomes

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

DNA targeting specificity of RNA-guided Cas9 nucleases

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Neuroligin1 drives synaptic and behavioral maturation through intracellular interactions.

6 June 2018

1 reference

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One-step generation of mice carrying mutations in multiple genes by CRISPR/Cas-mediated genome engineering

6 June 2018

1 reference

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Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Neuroligin-1 controls synaptic abundance of NMDA-type glutamate receptors through extracellular coupling

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Investigation of the freely available easy-to-use software 'EZR' for medical statistics

6 June 2018

1 reference

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6 June 2018

1 reference

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Neuroligin-1-dependent competition regulates cortical synaptogenesis and synapse number

6 June 2018

1 reference

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Transsynaptic signaling by activity-dependent cleavage of neuroligin-1.

6 June 2018

1 reference

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Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Autistic-like behaviour in Scn1a+/- mice and rescue by enhanced GABA-mediated neurotransmission.

6 June 2018

1 reference

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Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Reduced excitatory neurotransmission and mild autism-relevant phenotypes in adolescent Shank3 null mutant mice

6 June 2018

1 reference

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SHANK1 Deletions in Males with Autism Spectrum Disorder

6 June 2018

1 reference

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Autism gene variant causes hyperserotonemia, serotonin receptor hypersensitivity, social impairment and repetitive behavior

6 June 2018

1 reference

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The role of neurexins and neuroligins in the formation, maturation, and function of vertebrate synapses

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

The conundrums of understanding genetic risks for autism spectrum disorders

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Predicting the functional impact of protein mutations: application to cancer genomics

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Neuroligin trafficking deficiencies arising from mutations in the alpha/beta-hydrolase fold protein family

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

A method and server for predicting damaging missense mutations

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Neuroligin-1 deletion results in impaired spatial memory and increased repetitive behavior

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Epac2 induces synapse remodeling and depression and its disease-associated forms alter spines

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

A neuroligin-4 missense mutation associated with autism impairs neuroligin-4 folding and endoplasmic reticulum export

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Identification of deleterious mutations within three human genomes

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Fast and accurate short read alignment with Burrows-Wheeler transform

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Minimal aberrant behavioral phenotypes of neuroligin-3 R451C knockin mice

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Neuroligins and neurexins link synaptic function to cognitive disease

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Structural basis for synaptic adhesion mediated by neuroligin-neurexin interactions

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Strong association of de novo copy number mutations with autism

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Pten regulates neuronal arborization and social interaction in mice

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Endocytosis and synaptic removal of NR3A-containing NMDA receptors by PACSIN1/syndapin1.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Altered anxiety-related and social behaviors in the Fmr1 knockout mouse model of fragile X syndrome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

The FoldX web server: an online force field

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Automated apparatus for quantitation of social approach behaviors in mice.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

UCSF Chimera--a visualization system for exploratory research and analysis

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

The Arg451Cys-neuroligin-3 mutation associated with autism reveals a defect in protein processing

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Disorder-associated mutations lead to functional inactivation of neuroligins

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

SIFT: Predicting amino acid changes that affect protein function

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

The autism genetic resource exchange: a resource for the study of autism and related neuropsychiatric conditions

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Imaging neuronal subsets in transgenic mice expressing multiple spectral variants of GFP

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Neuroligin 1: a splice site-specific ligand for beta-neurexins

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Altered Cortical Dynamics and Cognitive Function upon Haploinsufficiency of the Autism-Linked Excitatory Synaptic Suppressor MDGA2.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Social deficits in IRSp53 mutant mice improved by NMDAR and mGluR5 suppression

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

MutationTaster2: mutation prediction for the deep-sequencing age.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Activity-dependent proteolytic cleavage of neuroligin-1.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Altered neuroligin expression is involved in social deficits in a mouse model of the fragile X syndrome

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

Neuroligin-3-deficient mice: model of a monogenic heritable form of autism with an olfactory deficit.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

The RNA binding protein TLS is translocated to dendritic spines by mGluR5 activation and regulates spine morphology.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5571902

10.1371/JOURNAL.PGEN.1006940

19 August 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28841651%20AND%20SRC:MED&resulttype=core&format=json

release_ohzihps45zcrljog5xoi24n22a

28 March 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ohzihps45zcrljog5xoi24n22a

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28841651%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

PubMed publication ID

28841651

1 reference