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SHANK3 gene

Known as: PSAP2, SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS 3, SPANK-2 
This gene may play a role in neuronal function.
National Institutes of Health

Related topics

Related topics

2 relations
SH3 and Multiple Ankyrin Repeat Domains Protein 3Signal Transduction

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
CaMKIIα phosphorylation of Shank3 modulates ABI1-Shank3 interaction.
2018
2018
Auto-immune disorders in a child with PIK3CD variant and 22q13 deletion.
Review
2018
Review
2018
SHANK 3 haploinsufficiency : a ” common ” but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders
Autism spectrum disorders (ASD) are etiologically heterogeneous, with hundreds of rare, highly penetrant mutations and genomic… 
2017
2017
SHANK3 Regulates Intestinal Barrier Function Through Modulating ZO-1 Expression Through the PKCε-dependent Pathway.
BACKGROUND The integrity of the gut barrier in patients with inflammatory bowel disease is known to be impaired but the exact… 
Review
2017
Review
2017
Behavioural Phenotypes and Neural Circuit Dysfunctions in Mouse Models of Autism Spectrum Disorder.
Autism spectrum disorder (ASD) is a neurodevelopmental condition primarily characterised by alterations in social interaction and… 
Review
2016
Review
2016
Late-onset epileptic spasms in a patient with 22q13.3 deletion syndrome
2016
2016
Neurons Derived From Patient-Specific Induced Pluripotent Stem Cells: a Promising Strategy Towards Developing Novel Pharmacotherapies for Autism Spectrum Disorders
2012
2012
Comprehensive DNA copy number profile and BAC library construction of an Indian individual.
2011
2011
A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan–McDermid syndrome and hypergonadotropic hypogonadism
Chromosome 22q13 monosomy has been described as a contiguous gene syndrome. Localized in the critical region, SHANK3 is likely to… 
2011
2011
[Copy-number variations of SHANK3 and related clinical phenotypes in children with autism].
OBJECTIVE To explore possible relationship between copy-number variations (CNVs) in 15q11-13, 16p11 and SHANK3 gene by using… 
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