Shining a light on CNTNAP2: complex functions to complex disorders (Q28660523)

21 June 2017

title

Shining a light on CNTNAP2: complex functions to complex disorders (English)

1 reference

21 June 2017

Joses Ho

2

0 references

Sonja C Vernes

object named as

Sonja C Vernes

series ordinal

3

0 references

author name string

Pedro Rodenas-Cuadrado

series ordinal

1

1 reference

21 June 2017

language of work or name

English

0 references

publication date

29 May 2013

1 reference

European Journal of Human Genetics

21 June 2017

published in

1 reference

21 June 2017

volume

22

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21 June 2017

issue

2

1 reference

21 June 2017

page(s)

171-178

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CNTNAP2 and language processing in healthy individuals as measured with ERPs

21 June 2017

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CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila

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A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism

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Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene

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The human contactin-associated protein-like 2 gene (CNTNAP2) spans over 2 Mb of DNA at chromosome 7q35

17 March 2017

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Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels

17 March 2017

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Neural basis of an inherited speech and language disorder.

17 March 2017

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17 March 2017

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Cloning and sequence analysis of human breast epithelial antigen BA46 reveals an RGD cell adhesion sequence presented on an epidermal growth factor-like domain

17 March 2017

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Praxic and nonverbal cognitive deficits in a large family with a genetically transmitted speech and language disorder

17 March 2017

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Tenascin-X: a novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B

17 March 2017

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17 March 2017

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

17 March 2017

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Revised nomenclature for avian telencephalon and some related brainstem nuclei

17 March 2017

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A comparative study of the behavioral deficits following lesions of various parts of the zebra finch song system: implications for vocal learning

22 April 2017

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7 January 2021

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7 April 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895625

Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895625

FoxP2 expression in avian vocal learners and non-learners

7 April 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895625

Parallel FoxP1 and FoxP2 expression in songbird and human brain predicts functional interaction

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895625

Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay

7 April 2017

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Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation

3 June 2018

1 reference

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Direct downregulation of CNTNAP2 by STOX1A is associated with Alzheimer's disease

3 June 2018

1 reference

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3 June 2018

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1 reference

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Altered structural brain connectivity in healthy carriers of the autism risk gene, CNTNAP2.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895625

Characterization of the axon initial segment (AIS) of motor neurons and identification of a para-AIS and a juxtapara-AIS, organized by protein 4.1B.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895625

Replication of CNTNAP2 association with nonword repetition and support for FOXP2 association with timed reading and motor activities in a dyslexia family sample

3 June 2018

1 reference

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Reduced transcript expression of genes affected by inherited and de novo CNVs in autism

3 June 2018

1 reference

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CNTNAP2 variants affect early language development in the general population

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895625

Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects.

3 June 2018

1 reference

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Altered functional connectivity in frontal lobe circuits is associated with variation in the autism risk gene CNTNAP2

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895625

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895625

Common variants in major histocompatibility complex region and TCF4 gene are significantly associated with schizophrenia in Han Chinese

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895625

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

3 June 2018

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Drosophila neurexin IV interacts with Roundabout and is required for repulsive midline axon guidance

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895625

Normal variation in fronto-occipital circuitry and cerebellar structure with an autism-associated polymorphism of CNTNAP2

3 June 2018

1 reference

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The Avian Brain Nomenclature Forum: Terminology for a New Century in Comparative Neuroanatomy

3 June 2018

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Gene associated with seizures, autism, and hepatomegaly in an Amish girl

3 June 2018

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A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea

3 June 2018

1 reference

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3 June 2018

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Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome.

3 June 2018

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Voltage-gated ion channels in the axon initial segment of human cortical pyramidal cells and their relationship with chandelier cells

3 June 2018

1 reference

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Regulation of neocortical interneuron development and the implications for neurodevelopmental disorders.

3 June 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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895625

CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895625

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895625

GABAergic interneurons: implications for understanding schizophrenia and bipolar disorder

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895625

Intrinsic excitatory connections in the prefrontal cortex and the pathophysiology of schizophrenia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895625

Homology and Evolutionary Origins of the 'Neocortex'

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895625

Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder.

3 June 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.100

CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy.

21 January 2018

1 reference

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Twins with mental retardation and an interstitial deletion 7q34q36.2 leading to the diagnosis of long QT syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.100

CNTNAP2variants affect early language development in the general population

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.100

Pallial and subpallial derivatives in the embryonic chick and mouse telencephalon, traced by the expression of the genes Dlx-2, Emx-1, Nkx-2.1, Pax-6, and Tbr-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.100

Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.100

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.100

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.100

Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.100

CNTNAP2 is significantly associated with schizophrenia and major depression in the Han Chinese population

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895625

The neuronal adhesion protein TAG-1 is expressed by Schwann cells and oligodendrocytes and is localized to the juxtaparanodal region of myelinated fibers.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895625

Dynamic potassium channel distributions during axonal development prevent aberrant firing patterns

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23714751

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23714751

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2013.100

1 reference

OpenCitations bibliographic resource ID

21 June 2017

807029

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

807029

1 reference