|
Pervasive Development Disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutation or disruption of the SH3 and ankyrin repeat domains 3 (SHANK3) gene represents a highly penetrant, monogenic risk factor for autism spectrum disorder, and is a cause of Phelan-McDermid syndrome.
|
31189958 |
2019 |
|
Pervasive Development Disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Developmental social communication deficits in the Shank3 rat model of phelan-mcdermid syndrome and autism spectrum disorder.
|
29377611 |
2018 |
|
Pervasive Development Disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Environmental enrichment has minimal effects on behavior in the Shank3 complete knockout model of autism spectrum disorder.
|
30317697 |
2018 |
|
Pervasive Development Disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Deletions and mutations in the SHANK3 gene are strongly associated with autism spectrum disorder and underlie the autism-associated disorder Phelan-McDermid syndrome.
|
30064494 |
2018 |
|
Pervasive Development Disorder
|
0.100 |
Biomarker
|
group |
BEFREE |
Comprehensive analysis of two Shank3 and the Cacna1c mouse models of autism spectrum disorder.
|
28753255 |
2018 |
|
Pervasive Development Disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Association between SHANK3 polymorphisms and susceptibility to autism spectrum disorder.
|
29408620 |
2018 |
|
Pervasive Development Disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Several large-scale genomic studies have supported an association between cases of autism spectrum disorder and mutations in the genes SH3 and multiple ankyrin repeat domains protein 1 (SHANK1), SHANK2 and SHANK3, which encode a family of postsynaptic scaffolding proteins that are present at glutamatergic synapses in the CNS.
|
28179641 |
2017 |
|
Pervasive Development Disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Previous studies have shown that Autism spectrum disorder is a result of mutations of the main SHANK3 isoforms, which may be due to deficit in excitatory synaptic transmission and plasticity.
|
27592227 |
2017 |
|
Pervasive Development Disorder
|
0.100 |
Biomarker
|
group |
BEFREE |
A genome-wide investigation into parent-of-origin effects in autism spectrum disorder identifies previously associated genes including SHANK3.
|
27876814 |
2017 |
|
Pervasive Development Disorder
|
0.100 |
Biomarker
|
group |
BEFREE |
Recent studies have strongly implicated postsynaptic scaffolding proteins such as SAPAP3 or Shank3 in the pathogenesis of various mood disorders, including autism spectrum disorder, bipolar disorder (BD), and obsessive-compulsive disorders.
|
27530683 |
2016 |
|
Pervasive Development Disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We identified a mutation in SHANK3 that underscores its relevance in Autism Spectrum Disorder.
|
25646853 |
2015 |
|
Pervasive Development Disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum disorder.
|
26489495 |
2015 |
|
Pervasive Development Disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
A commonly carried genetic variant, rs9616915, in SHANK3 gene is associated with a reduced risk of autism spectrum disorder: replication in a Chinese population.
|
24398551 |
2014 |
|
Pervasive Development Disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Lack of association between NLGN3, NLGN4, SHANK2 and SHANK3 gene variants and autism spectrum disorder in a Chinese population.
|
23468870 |
2013 |
|
Pervasive Development Disorder
|
0.100 |
Biomarker
|
group |
BEFREE |
SHANK3 as an autism spectrum disorder-associated gene.
|
22749736 |
2013 |
|
Pervasive Development Disorder
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Contribution of SHANK3 mutations to autism spectrum disorder.
|
17999366 |
2007 |