|
Autism Spectrum Disorders
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Moreover, a mutation in SHANK2 found in autism spectrum disorders (ASDs) similarly disrupts these processes.
|
31597090 |
2019 |
|
Autism Spectrum Disorders
|
0.400 |
Biomarker
|
disease |
BEFREE |
To investigate whether SHANK family contributes to ASD prediction, on the basis of our previous studies of SHANK2 and SHANK3, we further investigated associations between SHANK1 polymorphisms and ASD risk as well as SNP-SNP interactions among SHANK family.
|
30629339 |
2019 |
|
Autism Spectrum Disorders
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Through harmonization of apparatus, test protocol, and aligned and non-aligned environmental variables, the present study shows that behavioral pharmacological responses in Shank2 knockout (KO) rats, a model of synaptic dysfunction relevant to autism spectrum disorders, were highly replicable across three research centers.
|
31406134 |
2019 |
|
Autism Spectrum Disorders
|
0.400 |
Biomarker
|
disease |
BEFREE |
Our findings provide evidence for hyperconnectivity and altered transcriptome in SHANK2 neurons derived from ASD subjects.
|
30911184 |
2019 |
|
Autism Spectrum Disorders
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Shank genes account for ∼1% of clinical ASD cases with Shank3 being the most common gene variant.
|
30134148 |
2019 |
|
Autism Spectrum Disorders
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.
|
30763456 |
2019 |
|
Autism Spectrum Disorders
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genetic defects in the three SH3 and multiple ankyrin repeat domains (SHANK) genes (<i>SHANK1, SHANK2</i>, and <i>SHANK3</i>) are associated with multiple major neuropsychiatric disorders, including autism spectrum disorder (ASD), schizophrenia (SCZ), and bipolar disorder (BPD).
|
30505269 |
2018 |
|
Autism Spectrum Disorders
|
0.400 |
Biomarker
|
disease |
BEFREE |
These results indicate that cell-type-specific deletions of <i>Shank2</i> in mice lead to differential synaptic and behavioral abnormalities.<b>SIGNIFICANCE STATEMENT</b> Shank2 is an abundant excitatory postsynaptic scaffolding protein implicated in the regulation of excitatory synapses and diverse psychiatric disorders including autism spectrum disorders.
|
29572432 |
2018 |
|
Autism Spectrum Disorders
|
0.400 |
Biomarker
|
disease |
BEFREE |
ASD is among the most heritable neuropsychiatric conditions with heritability estimates higher than 80%, and while available evidence points to a complex set of genetic factors, the SHANK (also known as ProSAP) gene family has emerged as one of the most promising candidates.
|
28963042 |
2018 |
|
Autism Spectrum Disorders
|
0.400 |
Biomarker
|
disease |
BEFREE |
Our results indicate SHANK2 is a susceptibility gene for ASD in Chinese children.© 2018 IUBMB Life, 70(8):763-776, 2018.
|
29934968 |
2018 |
|
Autism Spectrum Disorders
|
0.400 |
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
|
0.400 |
Biomarker
|
disease |
BEFREE |
Shank2 is an abundant postsynaptic scaffolding protein implicated in neurodevelopmental and psychiatric disorders, including autism spectrum disorders (ASD).
|
29970987 |
2018 |
|
Autism Spectrum Disorders
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Therefore, Shank2-AS is abnormally expressed in patients with ASD and may affect the structure and growth of neurons by regulating Shank2 expression, thereby facilitating the development of ASD.
|
30160788 |
2018 |
|
Autism Spectrum Disorders
|
0.400 |
Biomarker
|
disease |
BEFREE |
Recently, the Shank2 synaptic protein has been considered to be a key component in ASD, and mutations of SHANK2 gene induce the dysfunction of N-methyl-D-aspartate (NMDA) receptors, suggesting a link between Shank2 and NMDA receptors in ASD.
|
28326932 |
2017 |
|
Autism Spectrum Disorders
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genetic defects in the synaptic scaffolding protein gene, SHANK2, are linked to a variety of neuropsychiatric disorders, including autism spectrum disorders, schizophrenia, intellectual disability, and bipolar disorder, but the molecular mechanisms underlying the pleotropic effects of SHANK2 mutations are poorly understood.
|
29046483 |
2017 |
|
Autism Spectrum Disorders
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
ASD is among the most heritable neuropsychiatric conditions, and while available evidence points to a complex set of genetic factors, the SHANK gene family has emerged as one of the most promising candidates.
|
28500650 |
2017 |
|
Autism Spectrum Disorders
|
0.400 |
Biomarker
|
disease |
BEFREE |
SHANK proteins: roles at the synapse and in autism spectrum disorder.
|
28179641 |
2017 |
|
Autism Spectrum Disorders
|
0.400 |
Biomarker
|
disease |
BEFREE |
The Shank proteins are closely linked to neuropsychiatric diseases, such as autism spectrum disorders.
|
28647360 |
2017 |
|
Autism Spectrum Disorders
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genetic mutations in the SHANK family of proteins are linked to multiple neuropsychiatric disorders including autism spectrum disorders.
|
28361943 |
2017 |
|
Autism Spectrum Disorders
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SHANK2 genes are associated with ASD and ID.
|
27544825 |
2017 |
|
Autism Spectrum Disorders
|
0.400 |
GeneticVariation
|
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
|
0.400 |
Biomarker
|
disease |
BEFREE |
The Neurexin-Neuroligin-Shank (NRXN-NLGN-SHANK) pathway plays a key role in the formation, maturation and maintenance of synapses, consistent with the hypothesis of neurodevelopmental abnormality in ASD.
|
26335738 |
2015 |
|
Autism Spectrum Disorders
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the family of SHANK genes are strongly associated with autism spectrum disorders (ASD) and other neurodevelopmental and neuropsychiatric disorders, such as intellectual disability (ID), and schizophrenia (SCZ).
|
26338675 |
2015 |
|
Autism Spectrum Disorders
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the three SHANK genes encoding for postsynaptic scaffolding proteins have been shown to represent risk factors for autism spectrum disorders and other neurodevelopmental disorders.
|
25560758 |
2015 |
|
Autism Spectrum Disorders
|
0.400 |
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 |