|
Autism Spectrum Disorders
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
|
25356970 |
2015 |
|
Autism Spectrum Disorders
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.
|
30763456 |
2019 |
|
Autism Spectrum Disorders
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
In this article we review recent findings in regard to higher brain functions of SHANK3, epigenetic regulation of SHANK3 expression, and SHANK3-related ASD that were obtained from genetic analyses in ASD patients, molecular biological studies using developing mouse brains, and studies of Shank3 mutant mice.
|
22749736 |
2013 |
|
Autism Spectrum Disorders
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
In this issue of the JCI, Wang and coworkers show that glutamatergic synaptic transmission onto striatal projection neurons is weakened in mutant mice lacking the SH3 and multiple ankyrin repeat domains 3 (SHANK3B) scaffolding protein, defective expression of which has been implicated in ASDs.
|
28414299 |
2017 |
|
Autism Spectrum Disorders
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Deletions and point mutations in SHANK3 cause Phelan-McDermid Syndrome (PMS), and have also been implicated in autism spectrum disorder (ASD) and intellectual disabilities, leading to the hypothesis that reduced SHANK3 expression impairs basic brain functions that are important for social communication and cognition.
|
27189882 |
2017 |
|
Autism Spectrum Disorders
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Our work provides new data on the link between postnatal exposure to ambient PM2.5 and the onset of ASD-like symptoms in human beings, and the increased inflammatory response and abnormalities in Shank3 expression in the brain may contribute to the mechanisms of PM2.5 exposure-induced ASD.
|
29121345 |
2018 |
|
Autism Spectrum Disorders
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
In order to more closely evaluate the contribution of SHANK3 to neurodevelopmental expression of ASD, a knockout mouse model with a mutation in the PDZ domain was developed.
|
30385192 |
2019 |
|
Autism Spectrum Disorders
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Here, we investigated temporal, spatial, and isoform-specific expression patterns of shank3 during zebrafish development on the basis of previous researches and the differential effects of each shank3 transcript expression after exposure to valproic acid (VPA), an ASD-associated drug.
|
27562614 |
2016 |
|
Autism Spectrum Disorders
|
0.700 |
PosttranslationalModification
|
disease |
BEFREE |
This study is the first to find altered methylation patterns in SHANK3 in ASD brain samples.
|
24186872 |
2014 |
|
Autism Spectrum Disorders
|
0.700 |
Biomarker
|
disease |
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 |
|
Autism Spectrum Disorders
|
0.700 |
Biomarker
|
disease |
BEFREE |
SHANK3 has been described in the Phelan-McDermid syndrome (PMS), but also in autism spectrum disorders (ASD) and schizophrenia associated to moderate to severe intellectual disability (ID) and poor language.
|
24124131 |
2014 |
|
Autism Spectrum Disorders
|
0.700 |
Biomarker
|
disease |
BEFREE |
To further analyse the involvement of SHANK3 in ASD, we screened the International Molecular Genetic Study of Autism Consortium (IMGSAC) multiplex family sample, 330 families, for SNP association and copy number variants (CNVs) in SHANK3.
|
19384346 |
2009 |
|
Autism Spectrum Disorders
|
0.700 |
Biomarker
|
disease |
BEFREE |
Studies of genomic copy number variants (CNVs) have identified genes associated with autism spectrum disorder (ASD) and intellectual disability (ID) such as NRXN1, SHANK2, SHANK3 and PTCHD1.
|
25131214 |
2015 |
|
Autism Spectrum Disorders
|
0.700 |
Biomarker
|
disease |
BEFREE |
Among the most promising candidate genes for ASD is the SHANK gene family, including SHANK1, SHANK2 (ProSAP1), and SHANK3 (ProSAP2).
|
24726578 |
2014 |
|
Autism Spectrum Disorders
|
0.700 |
Biomarker
|
disease |
BEFREE |
Here we used two highly trusted ASD mouse models (male Shank3-deficient [Shank3<sup>+/ΔC</sup> ] mice modeling the monogenic etiology of ASD, and inbred BTBR mice [both male and female] modeling the idiopathic and highly polygenic pathology for ASD) to evaluate the level of motivation to engage in a social interaction.
|
31602784 |
2020 |
|
Autism Spectrum Disorders
|
0.700 |
Biomarker
|
disease |
BEFREE |
We found that gene expression of mGluR5 was significantly decreased in ASD versus controls (p=0.018) as well as downstream elements SHANK3 (p=0.005) and PLCB1 (p=0.009) but that the pro-inflammatory marker NOS2 was increased (p=0.047).
|
26052099 |
2015 |
|
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 |
BEFREE |
SHANK3 is one of the genes that underpins the synaptic hypothesis for ASD.
|
24218108 |
2014 |
|
Autism Spectrum Disorders
|
0.700 |
Biomarker
|
disease |
BEFREE |
In this study, we investigated the molecular mechanisms associated with the ASD-like behaviors observed in Shank3Δ11<sup>-/-</sup> mice, in which exon 11 has been deleted.
|
27021819 |
2017 |
|
Autism Spectrum Disorders
|
0.700 |
Biomarker
|
disease |
BEFREE |
In this study, we examined the copy numbers of four genes NLGN4, NLGN3, SHANK2, and SHANK3 in 285 ASD cases using multiplex fluorescence competitive polymerase chain reaction (PCR).
|
23468870 |
2013 |
|
Autism Spectrum Disorders
|
0.700 |
Biomarker
|
disease |
BEFREE |
These findings show that deficiency of Shank3 can impair mGluR5-Homer scaffolding, resulting in cortico-striatal circuit abnormalities that underlie deficits in learning and ASD-like behaviours.
|
27161151 |
2016 |
|
Autism Spectrum Disorders
|
0.700 |
Biomarker
|
disease |
BEFREE |
This evidence supports Shank3-ko NSCs as a reliable in vitro disease model and suggests the rescue of glial cells as a therapeutic strategy to prevent neuronal degeneration in ASD.
|
31773410 |
2020 |
|
Autism Spectrum Disorders
|
0.700 |
Biomarker
|
disease |
BEFREE |
The SHANK3 pathway may also be relevant to other forms of ASD, and many of the single-gene causes of ASD identified to date appear to converge on several common molecular pathways that underlie synaptic neurotransmission.
|
25894671 |
2015 |
|
Autism Spectrum Disorders
|
0.700 |
Biomarker
|
disease |
BEFREE |
Of particular recent interest are the synaptic cell adhesion and associated molecules, including neurexin 1, neuroligin 3 and 4, and SHANK3, which implicate glutamatergic synapse abnormalities in ASDs.
|
19432386 |
2009 |
|
Autism Spectrum Disorders
|
0.700 |
Biomarker
|
disease |
BEFREE |
In this "<i>Perspectives</i>" article, we review and comment on current advances in Shank3 research and include some original data that show common Shank3 deficits in a number of seemingly unrelated human neurological disorders that include sporadic Alzheimer's disease (AD), autism spectrum disorder (ASD), bipolar disorder (BD), Phelan-McDermid syndrome (PMS; 22q13.3 deletion syndrome), and schizophrenia (SZ).
|
29321759 |
2017 |