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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |