POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA
|
0.100 |
Biomarker
|
disease |
BEFREE |
Although SHANK3 haploinsufficiency has been associated with the major neurological symptoms of PMS, it cannot explain the clinical variability seen among individuals.
|
31319798 |
2019 |
POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA
|
0.100 |
Biomarker
|
disease |
BEFREE |
Shank3, an abundant excitatory postsynaptic scaffolding protein, has been associated with multiple brain disorders, including autism spectrum disorders (ASD) and Phelan-McDermid syndrome (PMS).
|
31649512 |
2019 |
POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
However, it is still unclear to what extent SHANK3 deletions contribute to the PMS phenotype, and what other genes nearby are causal to the neurologic disease.
|
30875393 |
2019 |
POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA
|
0.100 |
Biomarker
|
disease |
BEFREE |
Shank3 is an excitatory postsynaptic scaffolding protein implicated in multiple brain disorders, including autism spectrum disorders (ASD) and Phelan-McDermid syndrome (PMS).
|
30356810 |
2018 |
POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA
|
0.100 |
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 |
POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here, we report the production and characterization of a <i>Shank3</i>-deficient rat model of PMS, with a genetic alteration similar to a human SHANK3 mutation.
|
28139198 |
2017 |
POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA
|
0.100 |
Biomarker
|
disease |
BEFREE |
CMA revealed a novel, de novo 5.1 Mb microdeletion of 22q13.31q13.33 not involving SHANK3, a gene typically deleted in PMS.
|
28576520 |
2017 |
POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Moreover, augmenting mGlu5-receptor activity by administering 3-Cyano-N-(1,3-diphenyl-1H-pyrazol-5-yl)benzamide ameliorated the functional and behavioral defects that were observed in Shank3Δ11<sup>-/-</sup> mice, suggesting that pharmaceutical treatments that increase mGlu5 activity may represent a new approach for treating patients that are affected by PMS and SHANK3 mutations.
|
27021819 |
2017 |
POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA
|
0.100 |
Biomarker
|
disease |
BEFREE |
An evaluation of the behavioural phenotype of PMS and the prevalence and phenomenology of ASD is warranted, particularly given the causal involvement of the SHANK3 gene in the aetiology of PMS.
|
29126394 |
2017 |
POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA
|
0.100 |
Biomarker
|
disease |
BEFREE |
The cause of PMS has been isolated to loss of function of one copy of SHANK3, which codes for a master scaffolding protein found in the postsynaptic density of excitatory synapses.
|
25894671 |
2015 |
POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The analyses relating the PMS genotype to the behavioral phenotype revealed additional complex relationships with contributions of genes in both deleted and preserved SHANK3 regions to the ASD phenotype and other neurobehavioral impairments.
|
26306707 |
2015 |
POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA
|
0.100 |
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 |