(Q24315560)

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

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Contactin associated protein 2

1 reference

GOA release 2020-03-11

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GOA release 2020-03-11

neuromuscular process controlling balance

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GOA release 2020-03-11

Neurexin IV Dmel_CG6827

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GOA release 2020-03-11

10

object named as

André Reis

author given names

André

author last names

Reis

1 reference

19 October 2023

12

object named as

Anita Rauch

author given names

Anita

author last names

Rauch

1 reference

19 October 2023

Annette Schenck

object named as

Annette Schenck

11

author given names

Annette

author last names

Schenck

1 reference

19 October 2023

Lilian Bomme Ousager

object named as

Lilian B Ousager

5

author given names

Lilian B

author last names

Ousager

1 reference

19 October 2023

9

object named as

Arif B Ekici

author given names

Arif B

author last names

Ekici

1 reference

19 October 2023

author name string

Christiane Zweier

1

author given names

Christiane

author last names

Zweier

1 reference

19 October 2023

Eiko K de Jong

2

author given names

Eiko K

author last names

de Jong

1 reference

19 October 2023

Markus Zweier

3

author given names

Markus

author last names

Zweier

1 reference

19 October 2023

Alfredo Orrico

4

author given names

Alfredo

author last names

Orrico

1 reference

19 October 2023

Amanda L Collins

6

author given names

Amanda L

author last names

Collins

1 reference

19 October 2023

Emilia K Bijlsma

7

author given names

Emilia K

author last names

Bijlsma

1 reference

19 October 2023

Merel A W Oortveld

8

author given names

Merel A W

author last names

Oortveld

1 reference

19 October 2023

language of work or name

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publication date

November 2009

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American Journal of Human Genetics

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85

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655-66

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5

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describes a project that uses

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2775834/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

on focus list of Wikimedia project

0 references

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

19 March 2017

A functional genetic link between distinct developmental language disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

19 March 2017

Disruption of the neurexin 1 gene is associated with schizophrenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

19 March 2017

Neuroligins and neurexins link synaptic function to cognitive disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

19 March 2017

Structural variation of chromosomes in autism spectrum disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

19 March 2017

Disruption of neurexin 1 associated with autism spectrum disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

19 March 2017

Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

19 March 2017

A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

19 March 2017

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

19 March 2017

High frequency of neurexin 1beta signal peptide structural variants in patients with autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

19 March 2017

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

19 March 2017

Juxtaparanodal clustering of Shaker-like K+ channels in myelinated axons depends on Caspr2 and TAG-1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

19 March 2017

Interactions between heterologous helix-loop-helix proteins generate complexes that bind specifically to a common DNA sequence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

19 March 2017

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

19 March 2017

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

19 March 2017

Alpha-neurexins couple Ca2+ channels to synaptic vesicle exocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

19 March 2017

Neurexins: three genes and 1001 products

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

19 March 2017

Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

7 April 2017

A synaptic trek to autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

7 April 2017

Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

27 September 2017

Neurexin IV and Wrapper interactions mediate Drosophila midline glial migration and axonal ensheathment.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

27 September 2017

Drosophila Neurexin IV stabilizes neuron-glia interactions at the CNS midline by binding to Wrapper

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

27 September 2017

X-linked mental retardation: focus on synaptic function and plasticity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

27 September 2017

Neurexin 1alpha structural variants associated with autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

27 September 2017

Genes, plasticity and mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

27 September 2017

Crucial role of Drosophila neurexin in proper active zone apposition to postsynaptic densities, synaptic growth, and synaptic transmission

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

27 September 2017

Neurexin-1 is required for synapse formation and larvae associative learning in Drosophila.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

27 September 2017

The modular nature of genetic diseases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

27 September 2017

Molecular and comparative genetics of mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

27 September 2017

Drosophila larval neuromuscular junction: molecular components and mechanisms underlying synaptic plasticity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

27 September 2017

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

30 May 2018

Extracellular domains of alpha-neurexins participate in regulating synaptic transmission by selectively affecting N- and P/Q-type Ca2+ channels.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

30 May 2018

A Drosophila neurexin is required for septate junction and blood-nerve barrier formation and function.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

30 May 2018

daughterless, a Drosophila gene essential for both neurogenesis and sex determination, has sequence similarities to myc and the achaete-scute complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

30 May 2018

TCF4 deletions in Pitt-Hopkins Syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

29 November 2018

Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

29 November 2018

CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

29 November 2018

Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

29 November 2018

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

29 November 2018

Bruchpilot, a protein with homology to ELKS/CAST, is required for structural integrity and function of synaptic active zones in Drosophila.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

29 November 2018

Possible case of Pitt-Hopkins syndrome in sibs.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

29 November 2018

Neurexin IV, caspr and paranodin--novel members of the neurexin family: encounters of axons and glia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775834

29 November 2018

Internodal specializations of myelinated axons in the central nervous system

1 reference

https://pubmed.ncbi.nlm.nih.gov/19896112

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GRR: graphical representation of relationship errors

1 reference

https://pubmed.ncbi.nlm.nih.gov/19896112

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2009.10.004

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

release_lshqtdu2xvds5cfhfcnmoaz5me

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OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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