Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene. (Q52613482)

4 May 2018

title

Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene. (English)

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4 May 2018

author

William B. Dobyns

12

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4 May 2018

Graeme Black

13

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4 May 2018

Len A. Pennacchio

11

object named as

Len A Pennacchio

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4 May 2018

Wendy Schackwitz

10

object named as

Wendy Schackwitz

1 reference

4 May 2018

Nathan Osbun

1

1 reference

4 May 2018

Jiang Li

2

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4 May 2018

Mary C O'Driscoll

3

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4 May 2018

Zoe Strominger

4

1 reference

4 May 2018

Mari Wakahiro

5

1 reference

4 May 2018

Eric Rider

6

1 reference

4 May 2018

Polina Bukshpun

7

1 reference

4 May 2018

Elena Boland

8

1 reference

4 May 2018

Cailyn H Spurrell

9

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4 May 2018

Elliott H Sherr

14

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4 May 2018

language of work or name

English

0 references

publication date

7 July 2011

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4 May 2018

American Journal of Medical Genetics

published in

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4 May 2018

volume

155A

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4 May 2018

issue

8

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4 May 2018

page(s)

1865-1876

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4 May 2018

Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

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A schizophrenia-associated mutation of DISC1 perturbs cerebral cortex development

22 May 2018

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22 May 2018

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22 May 2018

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DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL: regulation and loss of interaction with mutation

22 May 2018

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Disrupted-in-Schizophrenia-1 (DISC-1): mutant truncation prevents binding to NudE-like (NUDEL) and inhibits neurite outgrowth

22 May 2018

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22 May 2018

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Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

22 May 2018

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22 May 2018

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22 May 2018

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22 May 2018

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22 May 2018

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22 May 2018

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22 May 2018

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Schizophrenia and the corpus callosum: developmental, structural and functional relationships

22 May 2018

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22 May 2018

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22 May 2018

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Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome

13 August 2018

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A 1q42 deletion involving DISC1, DISC2, and TSNAX in an autism spectrum disorder

13 August 2018

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Schizophrenia-related neural and behavioral phenotypes in transgenic mice expressing truncated Disc1.

13 August 2018

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Agenesis of the corpus callosum in California 1983-2003: a population-based study.

13 August 2018

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Identification of high risk DISC1 structural variants with a 2% attributable risk for schizophrenia

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5544936

Cdc42 regulates cofilin during the establishment of neuronal polarity.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5544936

Association of DISC1 with autism and Asperger syndrome

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5544936

Behavioral phenotypes of Disc1 missense mutations in mice

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5544936

Positive association of the Disrupted-in-Schizophrenia-1 gene (DISC1) with schizophrenia in the Chinese Han population

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5544936

Anomalies of the corpus callosum: an MR analysis of the phenotypic spectrum of associated malformations

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5544936

A case of schizophrenia with complete agenesis of the corpus callosum

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5544936

Corpus callosum morphometrics in young children with autism spectrum disorder

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5544936

Genetic association between schizophrenia and the DISC1 gene in the Scottish population

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5544936

Expression of disrupted in schizophrenia 1 (DISC1) protein in the adult and developing mouse brain indicates its role in neurodevelopment.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5544936

Major brain lesions detected on sonographic screening of apparently normal term neonates.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5544936

Trends in elective terminations of pregnancy between 1989 and 2000 in a French county (the Isère).

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5544936

FISH and cytogenetic characterization of a terminal chromosome 1q deletion: clinical case report and phenotypic implications

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5544936

Monozygotic twin cases of the agenesis of the corpus callosum with schizophrenic disorder

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5544936

Meta-analysis of magnetic resonance imaging studies of the corpus callosum in schizophrenia

13 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002/AJMG.A.34081

Chromosome 1q42 deletion and agenesis of the corpus callosum

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002/AJMG.A.34081

Total agenesis of the corpus callosum in a patient with childhood-onset schizophrenia

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21739582

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Interstitial deletion of 1q42.13-q43 with Duane retraction syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21739582

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Microdissection-based high-resolution genomic array analysis of two patients with cytogenetically identical interstitial deletions of chromosome 1q but distinct clinical phenotypes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21739582

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.A.34081

1 reference

4 May 2018

PMC publication ID

5544936

1 reference

4 May 2018

PubMed publication ID

21739582

1 reference

4 May 2018