Identification and functional characterization of rare SHANK2 variants in schizophrenia (Q36301065)

13 August 2017

Identification and functional characterization of rare SHANK2 variants in schizophrenia (English)

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13 August 2017

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12

M Rietschel

1 reference

13 August 2017

S Peykov

1

1 reference

13 August 2017

S Berkel

2

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13 August 2017

M Schoen

3

1 reference

13 August 2017

K Weiss

4

1 reference

13 August 2017

F Degenhardt

5

1 reference

13 August 2017

J Strohmaier

6

1 reference

13 August 2017

B Weiss

7

1 reference

13 August 2017

C Proepper

8

1 reference

13 August 2017

G Schratt

9

1 reference

13 August 2017

M M Nöthen

10

1 reference

13 August 2017

T M Boeckers

11

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13 August 2017

G A Rappold

13

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13 August 2017

language of work or name

English

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publication date

6 January 2015

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13 August 2017

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13 August 2017

20

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13 August 2017

12

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13 August 2017

1489-1498

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Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International

13 August 2017

start time

6 January 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability

30 September 2017

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Copy number variation in schizophrenia in Sweden

30 September 2017

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A polygenic burden of rare disruptive mutations in schizophrenia

30 September 2017

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De novo mutations in schizophrenia implicate synaptic networks

30 September 2017

1 reference

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Analysis of copy number variations at 15 schizophrenia-associated loci.

30 September 2017

1 reference

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The penetrance of copy number variations for schizophrenia and developmental delay.

30 September 2017

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Genome-wide association analysis identifies 13 new risk loci for schizophrenia

30 September 2017

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Copy number variants in German patients with schizophrenia

30 September 2017

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Paternal age, de novo mutations and schizophrenia

30 September 2017

1 reference

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Revisiting the relationship between autism and schizophrenia: toward an integrated neurobiology

30 September 2017

1 reference

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

30 September 2017

1 reference

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

30 September 2017

1 reference

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

30 September 2017

1 reference

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

30 September 2017

1 reference

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Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2

30 September 2017

1 reference

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SHANK1 Deletions in Males with Autism Spectrum Disorder

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4653611

CNVs: harbingers of a rare variant revolution in psychiatric genetics

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4653611

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4653611

SLiCE: a novel bacterial cell extract-based DNA cloning method

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4653611

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4653611

Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology

30 September 2017

1 reference

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Genome-wide association study identifies five new schizophrenia loci

30 September 2017

1 reference

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4653611

Exome sequencing supports a de novo mutational paradigm for schizophrenia.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4653611

SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4653611

Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4653611

Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4653611

Glutamatergic theories of schizophrenia.

30 September 2017

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A versatile gene-based test for genome-wide association studies

30 September 2017

1 reference

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Functional impact of global rare copy number variation in autism spectrum disorders

30 September 2017

1 reference

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Strong synaptic transmission impact by copy number variations in schizophrenia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4653611

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

30 September 2017

1 reference

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De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4653611

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

30 September 2017

1 reference

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Common variants on chromosome 6p22.1 are associated with schizophrenia

30 September 2017

1 reference

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Common variants conferring risk of schizophrenia

30 September 2017

1 reference

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Large recurrent microdeletions associated with schizophrenia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4653611

Rare chromosomal deletions and duplications increase risk of schizophrenia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4653611

Scaffolding proteins at the postsynaptic density: shank as the architectural framework

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4653611

Actin in action: the interplay between the actin cytoskeleton and synaptic efficacy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4653611

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4653611

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4653611

An architectural framework that may lie at the core of the postsynaptic density

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4653611

Computer-assisted phenotype characterization for genetic research in psychiatry

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4653611

Lamellipodial versus filopodial mode of the actin nanomachinery: pivotal role of the filament barbed end

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4653611

Linkage of the actin cytoskeleton to the postsynaptic density via direct interactions of Abp1 with the ProSAP/Shank family

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4653611

Activity-dependent redistribution and essential role of cortactin in dendritic spine morphogenesis.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4653611

ProSAP/Shank proteins - a family of higher order organizing molecules of the postsynaptic density with an emerging role in human neurological disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4653611

Paternal age and sporadic schizophrenia: evidence for de novo mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4653611

Synaptic scaffolding proteins in rat brain. Ankyrin repeats of the multidomain Shank protein family interact with the cytoskeletal protein alpha-fodrin

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4653611

Sharpin, a novel postsynaptic density protein that directly interacts with the shank family of proteins

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4653611

The Shank family of scaffold proteins

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4653611

Shank, a novel family of postsynaptic density proteins that binds to the NMDA receptor/PSD-95/GKAP complex and cortactin

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4653611

Automated Sholl analysis of digitized neuronal morphology at multiple scales

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4653611

A polydiagnostic application of operational criteria in studies of psychotic illness. Development and reliability of the OPCRIT system

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4653611

The PSD protein ProSAP2/Shank3 displays synapto-nuclear shuttling which is deregulated in a schizophrenia-associated mutation

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4653611

Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4653611

A promoter variant of SHANK1 affects auditory working memory in schizophrenia patients and in subjects clinically at risk for psychosis

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4653611

C-terminal synaptic targeting elements for postsynaptic density proteins ProSAP1/Shank2 and ProSAP2/Shank3.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4653611

22 September 2018

1 reference

https://api.crossref.org/works/10.1038/MP.2014.172

Increased exonic de novo mutation rate in individuals with schizophrenia

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25560758

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/MP.2014.172

1 reference

Dimensions Publication ID

13 August 2017

0 references

1 reference

13 August 2017

PubMed publication ID

25560758

1 reference