De novo TBR1 mutations in sporadic autism disrupt protein functions (Q34419403)

2 August 2017

De novo TBR1 mutations in sporadic autism disrupt protein functions (English)

1 reference

T-box brain transcription factor 1

2 August 2017

0 references

1 reference

negative regulation of transcription, DNA-templated

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Jay Shendure

8

1 reference

2 August 2017

Pelagia Deriziotis

1

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Sarah A. Graham

Sarah A Graham

3

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Brian J O'Roak

Brian J O'Roak

2

0 references

Simon Fisher

Simon E Fisher

10

0 references

Evan E. Eichler

9

Evan E Eichler

1 reference

2 August 2017

7

Jennifer Gerdts

1 reference

2 August 2017

Sara B Estruch

4

1 reference

2 August 2017

Danai Dimitropoulou

5

1 reference

2 August 2017

Raphael A Bernier

6

1 reference

2 August 2017

language of work or name

English

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publication date

18 September 2014

1 reference

2 August 2017

Nature Communications

1 reference

2 August 2017

5

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2 August 2017

4954

1 reference

https://scigraph.springernature.com/pub.10.1038/ncomms5954

2 August 2017

0 references

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A de novo 2.3 Mb deletion in 2q24.2q24.3 in a 20-month-old developmentally delayed girl.

6 July 2018

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Tbr1 haploinsufficiency impairs amygdalar axonal projections and results in cognitive abnormality

6 July 2018

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Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism

6 July 2018

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

6 July 2018

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The role of AUTS2 in neurodevelopment and human evolution

6 July 2018

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Neurogenomics of speech and language disorders: the road ahead

6 July 2018

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Autism-associated neuroligin-3 mutations commonly disrupt tonic endocannabinoid signaling

6 July 2018

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Using whole-exome sequencing to identify inherited causes of autism

6 July 2018

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Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

6 July 2018

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Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions

6 July 2018

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Phenotypic heterogeneity of genomic disorders and rare copy-number variants

6 July 2018

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Individual common variants exert weak effects on the risk for autism spectrum disorders

6 July 2018

1 reference

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De Novo Gene Disruptions in Children on the Autistic Spectrum

6 July 2018

1 reference

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Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

6 July 2018

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

6 July 2018

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

6 July 2018

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

6 July 2018

1 reference

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Phenotypic spectrum associated with CASK loss-of-function mutations

6 July 2018

1 reference

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Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism

6 July 2018

1 reference

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Protein interactome reveals converging molecular pathways among autism disorders

6 July 2018

1 reference

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

6 July 2018

1 reference

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A population genetic approach to mapping neurological disorder genes using deep resequencing

6 July 2018

1 reference

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TBR1 directly represses Fezf2 to control the laminar origin and development of the corticospinal tract

6 July 2018

1 reference

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Tbr1 and Fezf2 regulate alternate corticofugal neuronal identities during neocortical development

6 July 2018

1 reference

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Tbr1 regulates regional and laminar identity of postmitotic neurons in developing neocortex

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212638

The forkhead transcription factors, Foxp1 and Foxp2, identify different subpopulations of projection neurons in the mouse cerebral cortex

6 July 2018

1 reference

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FOXP2 as a molecular window into speech and language

6 July 2018

1 reference

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Transcriptional repression by the T-box proteins Tbx18 and Tbx15 depends on Groucho corepressors

6 July 2018

1 reference

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Functional genetic analysis of mutations implicated in a human speech and language disorder

6 July 2018

1 reference

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Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits

6 July 2018

1 reference

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Transcriptional modification by a CASK-interacting nucleosome assembly protein

6 July 2018

1 reference

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Transcriptional and DNA binding activity of the Foxp1/2/4 family is modulated by heterotypic and homotypic protein interactions

6 July 2018

1 reference

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Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene

6 July 2018

1 reference

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FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder.

6 July 2018

1 reference

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T-box genes in human disorders

6 July 2018

1 reference

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FOXP2: novel exons, splice variants, and CAG repeat length stability

6 July 2018

1 reference

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6 July 2018

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Structure of the DNA-bound T-box domain of human TBX3, a transcription factor responsible for ulnar-mammary syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212638

Behavioural analysis of an inherited speech and language disorder: comparison with acquired aphasia.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212638

A forkhead-domain gene is mutated in a severe speech and language disorder

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212638

Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212638

Tbr1 regulates differentiation of the preplate and layer 6.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212638

Nuclear translocation and transcription regulation by the membrane-associated guanylate kinase CASK/LIN-2

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212638

Localisation of a gene implicated in a severe speech and language disorder

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212638

Crystallographic structure of the T domain-DNA complex of the Brachyury transcription factor

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212638

Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212638

Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212638

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212638

T-brain-1: a homolog of Brachyury whose expression defines molecularly distinct domains within the cerebral cortex

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212638

Reelin gene variants and risk of autism spectrum disorders: an integrated meta-analysis.

6 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNCOMMS5954

Characterization of Foxp2 and Foxp1 mRNA and protein in the developing and mature brain.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNCOMMS5954

TBR1is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNCOMMS5954

21 January 2018

Identifiers

DOI

10.1038/NCOMMS5954

1 reference

Dimensions Publication ID

2 August 2017

0 references

0 references

1 reference

2 August 2017

1 reference