|
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 |
Biomarker
|
disease |
BEFREE |
Hoxb8 mutants also exhibit hyperanxiety and social behavioral deficits similar to mice with neuronal mutations in Sapap3, Slitrk5 and Shank3, reported models of OCD and autism spectrum disorders (ASDs).
|
28948967 |
2018 |
|
Autism Spectrum Disorders
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
If Shank3 mutations are found to affect anesthetic sensitivity in patients with ASD, better communication and stricter monitoring of anesthetic depth may be necessary.
|
27856360 |
2018 |
|
Autism Spectrum Disorders
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, our results suggested that this commonly genetic variant in SHANK3 gene strikingly decreased the risk of ASD in China.
|
24398551 |
2014 |
|
Autism Spectrum Disorders
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In contrast, the frequency and the penetrance of SHANK3 mutations in individuals with ASD and intellectual disability-more than 1 in 50-warrant its consideration for mutation screening in clinical practice.
|
25188300 |
2014 |
|
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 |
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 |
|
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 |
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 |
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 used mutant/knock-out mice of Shank2 (<i>Shank2</i><sup>-/-</sup>), Shank3 (<i>Shank3</i>αβ<sup>-/-</sup>), and Cntn4 (<i>Cntn4</i><sup>-/-</sup>) as ASD-models to explore whether these mice share a molecular signature in glutamatergic and GABAergic synaptic transmission in ASD-related brain regions.
|
29970989 |
2018 |
|
Autism Spectrum Disorders
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Intriguingly, all ASD Shank3 mutations impaired mGluR-dependent LTD without altering NMDAR-dependent LTD. Our data show that the specific perturbation in mGluR-dependent synaptic plasticity occurs in neurons expressing ASD-associated Shank3 mutations, which may underpin synaptic dysfunction and subsequent behavioral deficits in ASD.
|
30868621 |
2019 |
|
Autism Spectrum Disorders
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Introduction of this human ASD mutation into mice resulted in a small subset of phenotypes seen previously in constitutive Shank3 knockout mice, including increased allogrooming, increased social dominance, and reduced pup USV.
|
30610205 |
2019 |
|
Autism Spectrum Disorders
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Male mice with a deletion of the PDZ domain of Shank3 (Shank3B KO) were previously shown to display ASD-like behavioral phenotypes with reported self-injurious repetitive grooming and aberrant social interactions.
|
30134148 |
2019 |
|
Autism Spectrum Disorders
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutation in the SHANK3 human gene leads to different neuropsychiatric diseases including Autism Spectrum Disorder (ASD), intellectual disabilities and Phelan-McDermid syndrome.
|
29988084 |
2018 |
|
Autism Spectrum Disorders
|
0.700 |
GeneticVariation
|
disease |
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 |
|
Autism Spectrum Disorders
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ASD-associated SHANK3 in mice (Shank3B<sup>-/-</sup>) result in the accelerated maturation of corticostriatal circuits during the second and third postnatal weeks.
|
31722214 |
2019 |
|
Autism Spectrum Disorders
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mutations in SHANK genes, in particular SHANK2 and SHANK3, lead to autism spectrum disorders (ASD) in both human and mouse models.
|
27795858 |
2016 |
|
Autism Spectrum Disorders
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SHANK3 gene have been linked to neuropsychiatric disorders especially the autism spectrum disorders.
|
29327340 |
2018 |
|
Autism Spectrum Disorders
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.
|
17173049 |
2007 |
|
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 |
|
Autism Spectrum Disorders
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations/deletions in the SHANK3 gene are associated with autism spectrum disorders and intellectual disability.
|
27492494 |
2017 |
|
Autism Spectrum Disorders
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
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 |
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 |