Disruption of neurexin 1 associated with autism spectrum disorder (Q24643899)

21 June 2017

Disruption of neurexin 1 associated with autism spectrum disorder (English)

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21 June 2017

autism spectrum disorder

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10

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Fred R. Volkmar

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object named as

Fred Volkmar

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Mark J Daly

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Kerstin Kutsche

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Ami Klin

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James F Gusella

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Marcy E MacDonald

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2

Shotaro Kishikawa

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Ihn-Sik Seong

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Diana J Donovan

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Eric Lally

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Cynthia C Morton

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Hyung-Goo Kim

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Anne W Higgins

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Yiping Shen

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Lauren A Weiss

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Juliane Najm

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Maria Descartes

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Lynn Holt

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Stephen Braddock

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Robin Troxell

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Lee Kaplan

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Katherine Tsatsanis

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David J Harris

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Ilse Noens

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David L Pauls

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Bradley J Quade

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21 June 2017

language of work or name

English

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publication date

1 January 2008

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American Journal of Human Genetics

21 June 2017

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21 June 2017

82

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21 June 2017

199-207

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1

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Strong association of de novo copy number mutations with autism

21 June 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

Neurexin-neuroligin signaling in synapse development

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

Global variation in copy number in the human genome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

High frequency of neurexin 1beta signal peptide structural variants in patients with autism

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

Neurexins induce differentiation of GABA and glutamate postsynaptic specializations via neuroligins

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

Disorder-associated mutations lead to functional inactivation of neuroligins

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

A stoichiometric complex of neurexins and dystroglycan in brain

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

Neuroligin expressed in nonneuronal cells triggers presynaptic development in contacting axons

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

Neurexophilins form a conserved family of neuropeptide-like glycoproteins

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

The neuroligin and neurexin families: from structure to function at the synapse

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

Neuroligins and neurexins: linking cell adhesion, synapse formation and cognitive function

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

Structure and evolution of neurexin genes: insight into the mechanism of alternative splicing

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

Analysis of the human neurexin genes: alternative splicing and the generation of protein diversity

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

Neurexophilin binding to alpha-neurexins. A single LNS domain functions as an independently folding ligand-binding unit

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

Neurexins: three genes and 1001 products

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

Neurexin I alpha is a major alpha-latrotoxin receptor that cooperates in alpha-latrotoxin action

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

Autism diagnostic observation schedule: a standardized observation of communicative and social behavior

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

SUMO1 haploinsufficiency leads to cleft lip and palate

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

Alpha-neurexins couple Ca2+ channels to synaptic vesicle exocytosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

Model of autism: increased ratio of excitation/inhibition in key neural systems

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

A "silent" polymorphism in the MDR1 gene changes substrate specificity

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

A splice code for trans-synaptic cell adhesion mediated by binding of neuroligin 1 to alpha- and beta-neurexins

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

Prevalence of autism spectrum disorders--autism and developmental disabilities monitoring network, 14 sites, United States, 2002.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

Maps, codes, and sequence elements: can we predict the protein output from an alternatively spliced locus?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

ESPERR: learning strong and weak signals in genomic sequence alignments to identify functional elements

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

The genetics of autism spectrum disorders.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

What is known about autism: genes, brain, and behavior

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2253961

Molecular Cytogenetics of Autism

28 November 2018

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.AJHG.2007.09.011

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2007.09.011

1 reference

OpenCitations bibliographic resource ID

21 June 2017

1223618

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference