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SHANK3, ARG536TRP

 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2018
Review
2018
Genotype and phenotype correlations for SHANK3 de novo mutations in neurodevelopmental disorders
SHANK3 has been identified as the causative gene of 22q13.3 microdeletion syndrome phenotype. De novo mutations (DNMs) of SHANK3… Expand
2016
2016
Human Pluripotent Stem Cell-derived Cortical Neurons for High Throughput Medication Screening in Autism: A Proof of Concept Study in SHANK3 Haploinsufficiency Syndrome
Autism spectrum disorders affect millions of individuals worldwide, but their heterogeneity complicates therapeutic intervention… Expand
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2015
2015
Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller’s dementia infantilis, a rare subtype of autism spectrum disorder
BackgroundDeletions and mutations involving the SHANK3 gene lead to a nonspecific clinical presentation with moderate to profound… Expand
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Review
2013
Review
2013
SHANK3 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… Expand
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Highly Cited
2010
Highly Cited
2010
Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication
BackgroundSHANK3 is a protein in the core of the postsynaptic density (PSD) and has a critical role in recruiting many key… Expand
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Highly Cited
2006
Highly Cited
2006
Direct interaction of post‐synaptic density‐95/Dlg/ZO‐1 domain‐containing synaptic molecule Shank3 with GluR1 α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazole propionic acid receptor
A class of scaffolding protein containing the post‐synaptic density‐95/Dlg/ZO‐1 (PDZ) domain is thought to be involved in… Expand
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