|
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 |
GeneticVariation
|
disease |
BEFREE |
Together with these findings, we have identified maternal genetic effects not previously identified in ASD at a locus in SHANK3 on chromosome 22 and a locus in WBSCR17 on chromosome 7 (associated with Williams syndrome).
|
27876814 |
2017 |
|
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 |
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 |
GeneticVariation
|
disease |
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 |
|
Autism Spectrum Disorders
|
0.700 |
GeneticVariation
|
disease |
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 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
To assess whether deletion of Shank3 in mice results in ASD-like behavior, we conducted a battery of behavioral experiments to characterize Shank3B<sup>-/-</sup> mice, including repetitive grooming behavior tests, three-chamber tests and resident-intruder tests.
|
30809159 |
2019 |
|
Autism Spectrum Disorders
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Shank/ProSAP proteins are major scaffold proteins of the postsynaptic density; mutations in the human SHANK3 gene are associated with intellectual disability or autism spectrum disorders.
|
23897824 |
2013 |
|
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 |
Haploinsufficiency of the SHANK3 gene is causally linked to autism spectrum disorder (ASD), and ASD-associated genes are also enriched for chromatin remodelers.
|
29531362 |
2018 |
|
Autism Spectrum Disorders
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
One additional SHANK3 deletion was characterized in two ASD-affected siblings from another collection, which brings the total number of published mutations in unrelated ASD-affected families to seven.
|
17999366 |
2007 |
|
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 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Our findings reveal a peripheral mechanism of SHANK3, which may underlie pain deficits in SHANK3-related ASDs.
|
27916453 |
2016 |
|
Autism Spectrum Disorders
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The SHANK3 gene encoding core scaffolding proteins at glutamatergic postsynapse is a typical dosage-sensitive gene, both deletions and duplications of which are associated with Phelan-McDermid syndrome, autism spectrum disorders, bipolar disorder, intellectual disability, or schizophrenia.
|
26572867 |
2015 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Developmental loss of ASD-associated genes Shank3 or Mecp2 in peripheral mechanosensory neurons leads to region-specific brain abnormalities, revealing links between developmental somatosensory over-reactivity and the genesis of aberrant behaviors.
|
31398341 |
2019 |
|
Autism Spectrum Disorders
|
0.700 |
Biomarker
|
disease |
BEFREE |
Whether the impairments in associative learning observed in ASD relate to SHANK3 insufficiency restricted to the reward system is still an open question.
|
30364266 |
2018 |