Autism Spectrum Disorders
|
0.700 |
Biomarker
|
disease |
MGD |
|
|
|
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 |
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 |
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 |
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 |
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 |
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 |
These results further support the role of SHANK3 gene disruption in the etiology of ASD.
|
18615476 |
2009 |
Autism Spectrum Disorders
|
0.700 |
Biomarker
|
disease |
BEFREE |
Deletion of the human SHANK3 gene near the terminus of chromosome 22q is associated with Phelan-McDermid syndrome and autism spectrum disorders.
|
21048139 |
2010 |
Autism Spectrum Disorders
|
0.700 |
Biomarker
|
disease |
BEFREE |
The present study indicates that SHANK3 may not be a critical gene for the etiology of ASDs in Han Chinese population.
|
21575668 |
2011 |
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 |
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 |
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 |
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 |
Rare mutations in SHANK3 have been associated with idiopathic ASDs, non-syndromic intellectual disability, and schizophrenia.
|
24132240 |
2013 |
Autism Spectrum Disorders
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
While SHANK3 variants are present in any ASD subtype, the SNP rs76224556 appears to be significantly associated with PDD-NOS cases.
|
22892527 |
2013 |
Autism Spectrum Disorders
|
0.700 |
Biomarker
|
disease |
BEFREE |
Recent human genetic studies indicate that SHANK family genes (SHANK1, SHANK2, and SHANK3) are causative genes for idiopathic autism spectrum disorders (ASD).
|
23583105 |
2013 |
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 |
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 |
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 |
SHANK3 is one of the genes that underpins the synaptic hypothesis for ASD.
|
24218108 |
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 |