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 |
GeneticVariation
|
disease |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Although SHANK2 and SHANK3 mutations have been implicated in ASD and intellectual disability, the involvement of SHANK1 is unknown.
|
22503632 |
2012 |
Autism Spectrum Disorders
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Developmental social communication deficits in the Shank3 rat model of phelan-mcdermid syndrome and autism spectrum disorder.
|
29377611 |
2018 |
Autism Spectrum Disorders
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The unified idea on the molecular pathogenesis of Autism Spectrum Disorder (ASD) is still unknown although mutations in genes encoding neuroligins and SHANK3 have been shown in a small part of the patients.
|
18957284 |
2008 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
As ASD-associated SHANK3 mutations retain responsiveness to zinc, here we investigated how increasing levels of dietary zinc could alter behavioral and synaptic deficits that occur with ASD.
|
30405356 |
2018 |
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 |
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 |
Here we generated and characterized a <i>Shank3</i> knock-in mouse line carrying the Q321R mutation (<i>Shank3</i><sup>Q321R</sup> mice) identified in a human individual with ASD that affects the ankyrin repeat region (ARR) domain of the Shank3 protein.
|
31275112 |
2019 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Phelan-McDermid syndrome (PMS) is a rare genetic disorder characterized by global developmental delay, intellectual disability (ID), autism spectrum disorder (ASD), and mild dysmorphisms associated with several comorbidities caused by SHANK3 loss-of-function mutations.
|
31319798 |
2019 |
Autism Spectrum Disorders
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Although a number of mouse models with Shank3 mutations have been valuable for investigating the pathogenesis of ASD, species-dependent differences in behaviors and brain structures post considerable challenges to use small animals to model ASD and to translate experimental therapeutics to the clinic.
|
30329048 |
2019 |