Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia. (Q35786397)

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2 February 2020

title

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia (English)

1 reference

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2 February 2020

main subject

autism spectrum disorder

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0 references

1 reference

1

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2 February 2020

Philippe Jolivet

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2 February 2020

Marie-Odile Krebs

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2 February 2020

Anjene M. Addington

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Éric Fombonne

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G A Rouleau

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S Laurent

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L Mottron

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2 February 2020

author name string

J Gauthier

2

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2 February 2020

F F Hamdan

3

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R G Lafrenière

4

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Y Yang

5

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E Henrion

6

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A Noreau

8

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P Thibodeau

9

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L Karemera

10

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D Spiegelman

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F Kuku

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J Duguay

13

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L Destroismaisons

14

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M Côté

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K Lachapelle

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O Diallo

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A Raymond

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C Marineau

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N Champagne

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L Xiong

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C Gaspar

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J-B Rivière

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J Tarabeux

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P Cossette

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J L Rapoport

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L E Delisi

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R Joober

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P Drapeau

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language of work or name

English

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publication date

18 May 2010

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2 February 2020

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2 February 2020

volume

16

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2 February 2020

issue

8

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2 February 2020

page(s)

867-880

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Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders

2 February 2020

cites work

1 reference

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Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation

27 July 2018

1 reference

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Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

27 July 2018

1 reference

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A genome-wide association study of autism reveals a common novel risk locus at 5p14.1

27 July 2018

1 reference

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High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene

27 July 2018

1 reference

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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

27 July 2018

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Autism-lessons from the X chromosome

27 July 2018

1 reference

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Mutations in the calcium-related gene IL1RAPL1 are associated with autism

27 July 2018

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Genetic variation in an individual human exome

27 July 2018

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Cerebellar modulation of frontal cortex dopamine efflux in mice: relevance to autism and schizophrenia

27 July 2018

1 reference

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Contribution of SHANK3 mutations to autism spectrum disorder

27 July 2018

1 reference

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Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia

27 July 2018

1 reference

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Postsynaptic density: a key convergent site for schizophrenia susceptibility factors and possible target for drug development

27 July 2018

1 reference

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IL1-receptor accessory protein-like 1 (IL1RAPL1), a protein involved in cognitive functions, regulates N-type Ca2 -channel and neurite elongation

27 July 2018

1 reference

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A review of gene linkage, association and expression studies in autism and an assessment of convergent evidence

27 July 2018

1 reference

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The role of neuronal complexes in human X-linked brain diseases

27 July 2018

1 reference

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Genetic influences on the neural basis of social cognition

27 July 2018

1 reference

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SynDB: a Synapse protein DataBase based on synapse ontology

27 July 2018

1 reference

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Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males

27 July 2018

1 reference

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Molecular characterization and comparison of the components and multiprotein complexes in the postsynaptic proteome

27 July 2018

1 reference

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Comprehensive identification of phosphorylation sites in postsynaptic density preparations

27 July 2018

1 reference

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Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia

27 July 2018

1 reference

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Synaptic protein degradation by the ubiquitin proteasome system

27 July 2018

1 reference

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The genetics of schizophrenia

27 July 2018

1 reference

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Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

27 July 2018

1 reference

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Schizophrenia genes, gene expression, and neuropathology: on the matter of their convergence

27 July 2018

1 reference

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The hippocampus in schizophrenia: a review of the neuropathological evidence and its pathophysiological implications

27 July 2018

1 reference

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The X-linked mental retardation protein oligophrenin-1 is required for dendritic spine morphogenesis

27 July 2018

1 reference

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The synaptic pathology of schizophrenia: is aberrant neurodevelopment and plasticity to blame?

27 July 2018

1 reference

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Postnatal Neurodevelopmental Disorders: Meeting at the Synapse?

27 July 2018

1 reference

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Identification and characterization of Slitrk, a novel neuronal transmembrane protein family controlling neurite outgrowth

27 July 2018

1 reference

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A genomewide screen of 345 families for autism-susceptibility loci

27 July 2018

1 reference

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SIFT: Predicting amino acid changes that affect protein function

27 July 2018

1 reference

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

27 July 2018

1 reference

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PANTHER: a browsable database of gene products organized by biological function, using curated protein family and subfamily classification

27 July 2018

1 reference

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Human non-synonymous SNPs: server and survey

27 July 2018

1 reference

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A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25-27

27 July 2018

1 reference

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Epidemiological trends in rates of autism.

27 July 2018

1 reference

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Defective dendrite elongation but normal fertility in mice lacking the Rho-like GTPase activator Dbl.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3289139

Structure of human monoamine oxidase B, a drug target for the treatment of neurological disorders

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3289139

A genomewide screen for autism susceptibility loci

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3289139

Twin studies of schizophrenia: from bow-and-arrow concordances to star wars Mx and functional genomics

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3289139

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

27 July 2018

1 reference

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Social, communicational, and behavioral deficits associated with ring X turner syndrome

27 July 2018

1 reference

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A genomewide screen for schizophrenia genes in an isolated Finnish subpopulation, suggesting multiple susceptibility loci

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3289139

Role of MAO A and B in neurotransmitter metabolism and behavior

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3289139

Reduced dendritic spine density on cerebral cortical pyramidal neurons in schizophrenia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3289139

Are there sex differences in neuropsychological functions among patients with schizophrenia?

27 July 2018

1 reference

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A linkage study of schizophrenia to markers within Xp11 near the MAOB gene

27 July 2018

1 reference

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UBE3A/E6-AP mutations cause Angelman syndrome

27 July 2018

1 reference

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X chromosome and infantile autism

27 July 2018

1 reference

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Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes

27 July 2018

1 reference

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Phenylethylamine and schizophrenia

27 July 2018

1 reference

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Autism as a strongly genetic disorder: evidence from a British twin study

27 July 2018

2 references

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27 July 2018

https://api.crossref.org/works/10.1038/MP.2010.54

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

21 January 2018

1 reference

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Turner syndrome and schizophrenia: a further hint for the role of the X-chromosome in the pathogenesis of schizophrenic disorders

27 July 2018

1 reference

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Contact in the genetics of autism and schizophrenia

25 September 2018

1 reference

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Association of A/G polymorphism in intron 13 of the monoamine oxidase B gene with schizophrenia in a Spanish population

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3289139

A model incorporating potential skewed X-inactivation in MZ girls suggests that X-linked QTLs exist for several social behaviours including autism spectrum disorder

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3289139

Novel de novo SHANK3 mutation in autistic patients

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3289139

Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer

25 September 2018

1 reference

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Neuroscience. Autism's cause may reside in abnormalities at the synapse

25 September 2018

1 reference

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Association of DISC1 with autism and Asperger syndrome

25 September 2018

1 reference

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3289139

Molecular anatomy of a trafficking organelle

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3289139

Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3289139

CACNA1H mutations in autism spectrum disorders.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3289139

Molecular mechanisms contributing to dendritic spine alterations in the prefrontal cortex of subjects with schizophrenia.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3289139

Autism spectrum disorders associated with X chromosome markers in French-Canadian males

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3289139

Genetic linkage analysis of the X chromosome in autism, with emphasis on the fragile X region

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3289139

A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3289139

X-linked genes and mental functioning

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3289139

Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3289139

NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3289139

The role of protein phosphatase-1 in the modulation of synaptic and structural plasticity

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3289139

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3289139

Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation?

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3289139

Specificity of cerebellar vermian abnormalities in autism: a quantitative magnetic resonance imaging study

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3289139

Listening to silence and understanding nonsense: exonic mutations that affect splicing

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3289139

Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3289139

A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3289139

Increased stress response and β–phenylethylamine in MAOB–deficient mice

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3289139

Monoamine oxidase in schizophrenia: an overview

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3289139

Schizophrenia and sex chromosome anomalies

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20479760

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Linkage disequilibrium study of markers within the pericentromeric region of the X chromosome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20479760

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A further study of a possible locus for schizophrenia on the X chromosome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20479760

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/MP.2010.54

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20479760 AND SRC:MED&resulttype=core&format=json

2 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20479760 AND SRC:MED&resulttype=core&format=json

2 February 2020

PubMed publication ID

20479760

1 reference