De novo POGZ mutations in sporadic autism disrupt the DNA-binding activity of POGZ. (Q39830984)

15 September 2017

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De novo POGZ mutations in sporadic autism disrupt the DNA-binding activity of POGZ. (English)

1 reference

15 September 2017

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7

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4 June 2020

author name string

Kensuke Matsumura

1

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4 June 2020

Takanobu Nakazawa

2

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4 June 2020

Kazuki Nagayasu

3

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4 June 2020

Nanaka Gotoda-Nishimura

4

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4 June 2020

Atsushi Kasai

5

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4 June 2020

Atsuko Hayata-Takano

6

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4 June 2020

Hidenaga Yamamori

8

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4 June 2020

Yuka Yasuda

9

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4 June 2020

Ryota Hashimoto

10

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4 June 2020

Hitoshi Hashimoto

11

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4 June 2020

language of work or name

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21 April 2016

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Journal of molecular psychiatry

15 September 2017

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4 June 2020

volume

4

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4 June 2020

page(s)

1

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https://scigraph.springernature.com/pub.10.1186/s40303-016-0016-x

4 June 2020

exact match

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cites work

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839133

POGZ truncating alleles cause syndromic intellectual disability.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839133

Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839133

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839133

From the genetic architecture to synaptic plasticity in autism spectrum disorder

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839133

The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839133

The contribution of de novo coding mutations to autism spectrum disorder

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839133

Synaptic, transcriptional and chromatin genes disrupted in autism

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839133

Genome sequencing identifies major causes of severe intellectual disability

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839133

Chromatin regulators, phenotypic robustness, and autism risk

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839133

Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839133

A de novo convergence of autism genetics and molecular neuroscience

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839133

Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839133

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839133

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839133

NR2B tyrosine phosphorylation modulates fear learning as well as amygdaloid synaptic plasticity

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839133

A human centromere antigen (CENP-B) interacts with a short specific sequence in alphoid DNA, a human centromeric satellite

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839133

A novel de novo POGZ mutation in a patient with intellectual disability.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839133

A case of autism spectrum disorder arising from a de novo missense mutation in POGZ.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839133

Regulation of dendritic spine morphology by an NMDA receptor-associated Rho GTPase-activating protein, p250GAP.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839133

10.1186/S40303-016-0016-X

20 August 2018

Identifiers

DOI

1 reference

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4 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27103995%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

1 reference