De novo mutations in schizophrenia implicate synaptic networks (Q34540372)

2 August 2017

De novo mutations in schizophrenia implicate synaptic networks (English)

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2 August 2017

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25

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32

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19

Eilis Hannon

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2 August 2017

Jessica S Johnson

13

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Priit Palta

Priit Palta

9

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Elliott Rees

Elliott Rees

8

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Padhraig Gormley

Padhraig Gormley

6

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Douglas M. Ruderfer

Douglas M Ruderfer

10

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Jennifer L. Moran

Jennifer L Moran

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Peter Holmans

Peter Holmans

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Seth G. Grant

Seth G Grant

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Andrew Pocklington

Andrew J Pocklington

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Samuel A Rose

Samuel A Rose

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Aarno Palotie

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Aarno Palotie

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Pamela Sklar

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Edward M Scolnick

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Shaun M Purcell

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Kimberly Chambert

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Sarah Dwyer

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Vihra Milanova

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Isla Humphreys

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Noa Carrera

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Panos Roussos

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Menachem Fromer

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David H Kavanagh

3

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Hywel J Williams

4

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Lyudmila Georgieva

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Douglas D Barker

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Eric Banks

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Milind Mahajan

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Michael J Owen

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language of work or name

English

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publication date

22 January 2014

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506

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7487

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179-184

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https://scigraph.springernature.com/pub.10.1038/nature12929

2 August 2017

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cites work

A polygenic burden of rare disruptive mutations in schizophrenia

1 reference

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Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237002

Presynaptic neurexin-3 alternative splicing trans-synaptically controls postsynaptic AMPA receptor trafficking

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237002

Arc/Arg3.1 is a postsynaptic mediator of activity-dependent synapse elimination in the developing cerebellum.

7 July 2018

1 reference

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The translation of translational control by FMRP: therapeutic targets for FXS.

7 July 2018

1 reference

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The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders

7 July 2018

1 reference

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SynSysNet: integration of experimental data on synaptic protein-protein interactions with drug-target relations

7 July 2018

1 reference

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De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia.

7 July 2018

1 reference

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TNiK is required for postsynaptic and nuclear signaling pathways and cognitive function

7 July 2018

1 reference

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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

7 July 2018

1 reference

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Phenotypic heterogeneity of genomic disorders and rare copy-number variants

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237002

Rate of de novo mutations and the importance of father's age to disease risk

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237002

Genetic architectures of psychiatric disorders: the emerging picture and its implications

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237002

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237002

De Novo Gene Disruptions in Children on the Autistic Spectrum

7 July 2018

1 reference

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Patterns and rates of exonic de novo mutations in autism spectrum disorders

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237002

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237002

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237002

High frequencies of de novo CNVs in bipolar disorder and schizophrenia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237002

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237002

Arc in synaptic plasticity: from gene to behavior

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237002

De novo rates and selection of schizophrenia-associated copy number variants

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237002

Common variants at VRK2 and TCF4 conferring risk of schizophrenia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237002

FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237002

Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237002

Neurodevelopmental hypothesis of schizophrenia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237002

New views of Arc, a master regulator of synaptic plasticity

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237002

A systematic review and meta-analysis of the fertility of patients with schizophrenia and their unaffected relatives.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237002

Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237002

Human POGZ modulates dissociation of HP1alpha from mitotic chromosome arms through Aurora B activation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237002

Strong synaptic transmission impact by copy number variations in schizophrenia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237002

The Kraepelinian dichotomy - going, going... but still not gone

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237002

The Arc of synaptic memory

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237002

Neurocognition in first-episode schizophrenia: a meta-analytic review

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237002

Schizophrenia: a common disease caused by multiple rare alleles

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237002

Organization of brain complexity--synapse proteome form and function

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237002

Gene ontology: tool for the unification of biology

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237002

NMDA-receptor-dependent synaptic plasticity: multiple forms and mechanisms

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237002

Schizophrenia: caused by a fault in programmed synaptic elimination during adolescence?

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237002

Diagnostic exome sequencing in persons with severe intellectual disability

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237002

Genetics: Fish heads and human disease.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237002

A family-based study of common polygenic variation and risk of schizophrenia

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237002

Increased exonic de novo mutation rate in individuals with schizophrenia

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24463507

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NATURE12929

1 reference

2 August 2017

1 reference

2 August 2017

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