Cognition Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
Despite extensive research, it is unclear how FMRP deficiency contributes to the cognitive deficits in FXS.
|
21516088 |
2011 |
Cognition Disorders
|
0.400 |
AlteredExpression
|
group |
BEFREE |
Aspects of FXTAS that are modeled well include elevated levels of Fmr1 mRNA, reduced levels of Fmrp, the presence of intranuclear inclusions that develop with age and show similar distributions within neurons, and neuropsychological and cognitive deficits, including poor motor function, impaired memory and evidence of increased anxiety.
|
19574928 |
2009 |
Cognition Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
Examples include CAPRIN1 and AFF2 (both linked to FMR1, which is involved in fragile X syndrome), VIP (involved in social-cognitive deficits), and other genes such as SCN2A and KCNQ2 (linked to epilepsy), NRXN1, and CHD7, which causes ASD-associated CHARGE syndrome.
|
23849776 |
2013 |
Cognition Disorders
|
0.400 |
AlteredExpression
|
group |
BEFREE |
Silencing of the fragile X mental retardation 1 (FMR1) gene leads to loss of expression of FMRP and upregulated metabotropic glutamate receptor 5 (mGluR5) signaling resulting in the multiple physical and cognitive deficits associated with fragile X syndrome (FXS).
|
25956630 |
2015 |
Cognition Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
Treatment with Nutlin-3, a small molecule undergoing clinical trials for treating cancer, specifically inhibited the interaction of MDM2 with P53, and rescued neurogenic and cognitive deficits in FMRP-deficient mice.
|
27122614 |
2016 |
Cognition Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
The results are also suggestive of factors other than FMRP deficit which may determine some specific cognitive deficits in fragile X pre-mutation carriers.
|
12949966 |
2003 |
Cognition Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
We find FMRP-associated genes are under greater purifying selection than the remainder of genes and suggest they are especially dosage-sensitive targets of cognitive disorders.
|
22542183 |
2012 |
Cognition Disorders
|
0.400 |
AlteredExpression
|
group |
BEFREE |
It arises from a mutation in the FMR1 gene on the X chromosome that interferes with expression of fragile X mental retardation protein (FMRP) and leads to a wide range of behavioural and cognitive deficits.
|
19796132 |
2010 |
Cognition Disorders
|
0.400 |
Biomarker
|
group |
CTD_human |
Fragile x syndrome.
|
22043169 |
2011 |
Cognition Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
There was not an increased frequency of FMR1 expansions in individuals with cognitive disorders, including AD, compared with control subjects.
|
24958193 |
2014 |
Cognition Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Carriers of a FMR1 premutation allele (between 55 and 199 CGG repeats) are at risk of developing a wide range of medical, psychiatric and cognitive disorders, including executive dysfunction.
|
28689930 |
2017 |
Cognition Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Loss of the RNA-binding fragile X protein [fragile X mental retardation protein (FMRP)] results in a spectrum of cognitive deficits, the fragile X syndrome (FXS), while aging individuals with decreased protein levels present with a subset of these symptoms and tremor.
|
22993428 |
2012 |
Cognition Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
Reducing histone acetylation rescues both neurogenesis and cognitive deficits in mature adult FMRP-deficient mice.
|
29950602 |
2018 |
Cognition Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
Loss of the fragile X mental retardation protein, FMRP, engenders molecular, behavioral, and cognitive deficits in FXS patients.
|
30365357 |
2019 |