|
Autism Spectrum Disorders
|
0.100 |
GeneticVariation
|
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
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in <i>SHANK1-3</i> are prevalent in patients with autism spectrum disorders (ASD), and loss of one copy of <i>SHANK3</i> causes Phelan-McDermid Syndrome, a syndrome in which Autism occurs in >80% of cases.
|
30405356 |
2018 |
|
Autism Spectrum Disorders
|
0.100 |
Biomarker
|
disease |
BEFREE |
PV-deficient mice (PV-/-, PV+/-), as well as Shank1-/-, Shank3-/-, and VPA mice, which show behavioral deficits relevant to all human ASD core symptoms, are all characterized by lower PV expression levels.
|
29507711 |
2018 |
|
Autism Spectrum Disorders
|
0.100 |
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
|
0.100 |
Biomarker
|
disease |
BEFREE |
We conclude by discussing the implications of the behavioral and neuronal phenotypes displayed by the Shank1 knockout mouse model for the development of future pharmacological interventions in ASD.
|
28963042 |
2018 |
|
Autism Spectrum Disorders
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Thus far, the female biased effect of chromosome 4, 5p15.33, 8p, 9p24.1, 11p12-13, 15q, and Xp22.3 and the male biased effect of 1p31.3, 5q12.3, 7q, 9q33.3, 11q13.4, 13q33.3, 16p11.2, 17q11-21, Xp22.33/Yp11.31, DRD1, NLGN3, MAOA, and SHANK1 deletion have been discovered in ASD.
|
26781567 |
2017 |
|
Autism Spectrum Disorders
|
0.100 |
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
|
0.100 |
Biomarker
|
disease |
BEFREE |
Human genetic studies support that loss-of-function mutations in the <i>SH</i>3 domain and <i>ank</i>yrin repeat containing family proteins (SHANK1-3), the large synaptic scaffolding proteins enriched at the postsynaptic density of excitatory synapses, are causative for autism spectrum disorder and other neuropsychiatric disorders in humans.
|
29074576 |
2017 |
|
Autism Spectrum Disorders
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here, we assessed ASD-related phenotypes with particular emphasis on social behavior and cognition in Shank1 mouse mutants in comparison to heterozygous and wildtype littermate controls across development in both sexes.
|
28500650 |
2017 |
|
Autism Spectrum Disorders
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our results suggest that EZH2 is involved in regulating ZIC2 and SHANK1 which have been linked to neurological diseases such as autism spectrum disorder.
|
28720872 |
2017 |
|
Autism Spectrum Disorders
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This review focuses on the function of SHANK1 protein, Shank1 mouse models, and the molecular genetics of the SHANK1 gene in human ASD.
|
26335738 |
2015 |
|
Autism Spectrum Disorders
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Copy-number variants and truncating mutations in SHANK genes were present in ∼1% of patients with ASD: mutations in SHANK1 were rare (0.04%) and present in males with normal IQ and autism; mutations in SHANK2 were present in 0.17% of patients with ASD and mild intellectual disability; mutations in SHANK3 were present in 0.69% of patients with ASD and up to 2.12% of the cases with moderate to profound intellectual disability.
|
25188300 |
2014 |
|
Autism Spectrum Disorders
|
0.100 |
Biomarker
|
disease |
BEFREE |
The data are also informative for clinical-genetics interpretations of both inherited and sporadic forms of ASD involving SHANK1.
|
22503632 |
2012 |