The emerging role of SHANK genes in neuropsychiatric disorders (Q38152438)

29 August 2017

The emerging role of SHANK genes in neuropsychiatric disorders (English)

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29 August 2017

4

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29 August 2017

Richard Delorme

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author name string

Audrey Guilmatre

series ordinal

1

1 reference

PubMed ID

24124131

29 August 2017

Guillaume Huguet

series ordinal

2

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29 August 2017

7 October 2013

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29 August 2017

10

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Developmental Neurobiology

inferred from page(s)

published in

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29 August 2017

74

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29 August 2017

113-122

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29 August 2017

2

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FISH-mapping of a 100-kb terminal 22q13 deletion

29 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Differential expression and dendritic transcript localization of Shank family members: identification of a dendritic targeting element in the 3' untranslated region of Shank1 mRNA.

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

ProSAP/Shank proteins - a family of higher order organizing molecules of the postsynaptic density with an emerging role in human neurological disease

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https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Proline-rich synapse-associated proteins ProSAP1 and ProSAP2 interact with synaptic proteins of the SAPAP/GKAP family

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication

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https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Clozapine and haloperidol differentially regulate dendritic spine formation and synaptogenesis in rat hippocampal neurons

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Identification of a novel cortactin SH3 domain-binding protein and its localization to growth cones of cultured neurons

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Schizophrenia in a patient with subtelomeric duplication of chromosome 22q

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Novel de novo SHANK3 mutation in autistic patients

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Disruption of glutamate receptors at Shank-postsynaptic platform in Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Postsynaptic ProSAP/Shank scaffolds in the cross-hair of synaptopathies.

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

The amyloid hypothesis of Alzheimer's disease: progress and problems on the road to therapeutics

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Smaller dendritic spines, weaker synaptic transmission, but enhanced spatial learning in mice lacking Shank1.

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

A promoter variant of SHANK1 affects auditory working memory in schizophrenia patients and in subjects clinically at risk for psychosis

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Characterization of the Shank family of synaptic proteins. Multiple genes, alternative splicing, and differential expression in brain and development

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Contribution of SHANK3 mutations to autism spectrum disorder

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Shank, a novel family of postsynaptic density proteins that binds to the NMDA receptor/PSD-95/GKAP complex and cortactin

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Progressive accumulation of amyloid-beta oligomers in Alzheimer's disease and in amyloid precursor protein transgenic mice is accompanied by selective alterations in synaptic scaffold proteins

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

22q13 deletion syndrome

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Functional impact of global rare copy number variation in autism spectrum disorders

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Formation of beta-amyloid protein deposits in brains of transgenic mice

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Disassembly of shank and homer synaptic clusters is driven by soluble beta-amyloid(1-40) through divergent NMDAR-dependent signalling pathways

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Frontotemporal dementia phenotype associated with MAPT gene duplication.

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

SHANK1 Deletions in Males with Autism Spectrum Disorder

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations.

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Sociability and motor functions in Shank1 mutant mice

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https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Ring chromosome 22 and mood disorders

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Neuroligins and neurexins link synaptic function to cognitive disease

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Key role for gene dosage and synaptic homeostasis in autism spectrum disorders

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Phelan-McDermid syndrome: clinical report of a 70-year-old woman

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Scaffold proteins at the postsynaptic density

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Bipolar affective disorder and early dementia onset in a male patient with SHANK3 deletion.

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Novel variants of the SHANK3 gene in Japanese autistic patients with severe delayed speech development

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Communication impairments in mice lacking Shank1: reduced levels of ultrasonic vocalizations and scent marking behavior

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Reduced excitatory neurotransmission and mild autism-relevant phenotypes in adolescent Shank3 null mutant mice

1 reference

https://api.crossref.org/works/10.1002%2FDNEU.22128

7 January 2021

Identifiers

DOI

10.1002/DNEU.22128

1 reference

29 August 2017

1 reference

PubMed ID

24124131