22q13.3 Deletion Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Behavioral Phenotyping of an Improved Mouse Model of Phelan-McDermid Syndrome with a Complete Deletion of the Shank3 Gene.
|
30302388 |
2019 |
22q13.3 Deletion Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.
|
29719671 |
2018 |
22q13.3 Deletion Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Shank3 is localized in axons and presynaptic specializations of developing hippocampal neurons and involved in the modulation of NMDA receptor levels at axon terminals.
|
26725465 |
2016 |
22q13.3 Deletion Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Altered mGluR5-Homer scaffolds and corticostriatal connectivity in a Shank3 complete knockout model of autism.
|
27161151 |
2016 |
22q13.3 Deletion Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Adult restoration of Shank3 expression rescues selective autistic-like phenotypes.
|
26886798 |
2016 |
22q13.3 Deletion Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID.
|
26045941 |
2015 |
22q13.3 Deletion Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
|
25188300 |
2014 |
22q13.3 Deletion Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.
|
23758760 |
2013 |
22q13.3 Deletion Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients.
|
24132240 |
2013 |
22q13.3 Deletion Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.
|
23758760 |
2013 |
22q13.3 Deletion Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients.
|
24132240 |
2013 |
22q13.3 Deletion Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders.
|
22892527 |
2013 |
22q13.3 Deletion Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism.
|
21606927 |
2012 |
22q13.3 Deletion Syndrome
|
1.000 |
ChromosomalRearrangement
|
disease |
ORPHANET |
A copy number variation morbidity map of developmental delay.
|
21841781 |
2011 |
22q13.3 Deletion Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.
|
17173049 |
2007 |
22q13.3 Deletion Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome.
|
16284256 |
2006 |
22q13.3 Deletion Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome.
|
11431708 |
2001 |
22q13.3 Deletion Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Autism Spectrum Disorders
|
0.700 |
Biomarker
|
disease |
CTD_human |
Notwithstanding complexities, our results further implicate the SHANK3-NLGN4-NRXN1 postsynaptic density genes and also identify novel loci at DPP6-DPP10-PCDH9 (synapse complex), ANKRD11, DPYD, PTCHD1, 15q24, among others, for a role in ASD susceptibility.
|
18252227 |
2008 |
Autism Spectrum Disorders
|
0.700 |
Biomarker
|
disease |
CTD_human |
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.
|
17173049 |
2007 |
Schizophrenia
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
CTD_human |
Using combined behavioral, electrophysiological, biochemical, imaging, and molecular approaches, we find that Shank3-deficient mice exhibit autism-like social deficits and repetitive behaviors, as well as the significantly diminished NMDA receptor (NMDAR) synaptic function and synaptic distribution in prefrontal cortex.
|
26027926 |
2015 |
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
CTD_human |
Identifying autism loci and genes by tracing recent shared ancestry.
|
18621663 |
2008 |
Intellectual Disability
|
0.500 |
Biomarker
|
group |
CTD_human |
Three cases with a common breakpoint within SHANK3 share a number of common phenotypic features, such as mental retardation and developmental delay with severely delayed or absent expressive speech.
|
16284256 |
2006 |
SCHIZOPHRENIA 15
|
0.400 |
GeneticVariation
|
disease |
UNIPROT |
De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.
|
20385823 |
2010 |