|
Abnormal behavior
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Behavioral abnormalities in the Fmr1-KO2 mouse model of fragile X syndrome: The relevance of early life phases.
|
28590057 |
2017 |
|
Abnormal behavior
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Mothers with the FMR1 premutation have been shown to exhibit elevated parenting stress and internalizing symptoms, which have each been associated with child behavior problems [Bailey et al.
|
24832235 |
2014 |
|
Abnormal behavior
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
The elevated prevalence of depression and anxiety in women with the FMR1 premutation is a clear and pressing concern given the frequent occurrence of the FMR1 premutation in the general community and the adverse outcomes-at both individual and systems levels-associated with psychiatric disorders in this population.
|
26300270 |
2016 |
|
Abnormal behavior
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Never having been married and smaller CGG repeat length were associated with increased likelihood of MDD while increased children with FXS in the family and greater child problem behaviors were associated with increased likelihood of an anxiety disorder in the FMR 1 premutation group.
|
18553360 |
2009 |
|
Abnormal behavior
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Carriers of expanded alleles of the fragile X mental retardation (FMR1) gene may display parkinsonism, cognitive decline, and behavioral changes.
|
17548778 |
2007 |
|
Abnormal behavior
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
FXS with ASD results from the loss of fragile X mental retardation (<i>fmr</i>) gene products, including fragile X mental retardation protein (FMRP), which triggers a variety of physiological and behavioral abnormalities.
|
28632163 |
2017 |
|
Abnormal behavior
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
These findings suggest that the FMR-1 mutation causing the fragile X syndrome leads to observable changes in neuroanatomy that may be relevant to the neurodevelopmental disability and behavioural problems observed in affected individuals.
|
7585014 |
1995 |
|
Abnormal behavior
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
In this review we discuss the mutation in the fragile X mental retardation-1 gene (FMR1), that leads to FXS, the role FMRP plays in neuronal cells, experiments from our own laboratory that demonstrate reductions of FMRP in additional psychiatric disorders (autism, schizophrenia, bipolar disorder, and major depressive disorder), and potential therapies to ameliorate the loss of FMRP.
|
21108954 |
2011 |
|
Abnormal behavior
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
A single early-life seizure results in long-term behavioral changes in the adult Fmr1 knockout mouse.
|
31520894 |
2019 |
|
Abnormal behavior
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Fmr1 knockout (KO) mice do not express FMRP and, as a result, reproduce some FXS behavioral abnormalities.
|
28931075 |
2017 |
|
Abnormal behavior
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Our previous results demonstrated the behavioral abnormalities in fmr1 knockout (KO) zebrafish such as fear memory impairment and autism-like behavior.
|
28829283 |
2017 |
|
Abnormal behavior
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Fmr1 knockout mice exhibit a phenotype with some similarities to humans, such as macroorchidism and behavioral abnormalities.
|
10767339 |
2000 |
|
Abnormal behavior
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
It is characterized by cognitive impairment and physical and behavioral problems and is caused by the silencing of fmr1 transcription and the absence of the fmr1 protein (FMRP).
|
23536755 |
2013 |
|
Abnormal behavior
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Gene-set selection was based on previously reported associations with psychiatric disorders and resulted in testing of specific synaptic and glial sets, a glutamate pathway gene-set, mitochondrial gene-sets and gene-sets consisting of fragile X mental retardation protein (FMRP) targets.In total 32 gene-sets were tested.
|
28422133 |
2017 |
|
Abnormal behavior
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Our recent work revealed that THIP (gaboxadol), a GABA(A) receptor agonist, can restore principal neuron excitability deficits in the Fmr1 KO amygdala, suggesting that THIP may also restore some of the key behavioral abnormalities in Fmr1 KO mice.
|
22067669 |
2011 |
|
Abnormal behavior
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Fragile X syndrome (FXS) is caused by a lack of the fragile X mental retardation protein (FMRP); FMRP deficiency in neurons of patients with FXS causes intellectual disability (IQ<70) and several behavioural problems, including hyperactivity and autistic-like features.
|
20864408 |
2010 |
|
Abnormal behavior
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
The findings of this study suggest that differentiation according to the FMR-1 status may be more significant at the neurocognitive level than at the behavioral level and support the hypothesis that behavioral problems are more influenced by external factors than by the FMR-1 carrier state.
|
8844078 |
1996 |
|
Abnormal behavior
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
In our hands, as expected, FMRP-deficiency causes autism-related behavioral changes in nesting and in a marble-burying test.
|
29859980 |
2018 |
|
Abnormal behavior
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Our data provide for the first time evidence for the presence of autistic-relevant behavioral abnormalities in Fmr1-HET female mice, demonstrating the utility of this mouse line to model autistic-like behaviors in both sexes.
|
28301083 |
2017 |
|
Abnormal behavior
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
We conducted an in-home evaluation of 120 children (80 boys and 40 girls) with the fragile X full mutation and their unaffected siblings, including measurements of the FMR1 protein (FMRP), quality of the home environment, maternal and paternal psychopathology, effectiveness of educational and therapeutic services, and child behavior problems.
|
11694672 |
2001 |
|
Abnormal behavior
|
0.100 |
AlteredExpression
|
phenotype |
BEFREE |
FMR1 exon 1 methylation, CGG size, and FMR1 mRNA could not predict probable dysexecutive/psychiatric disorders in PM women.
|
25809302 |
2015 |
|
Abnormal behavior
|
0.100 |
AlteredExpression
|
phenotype |
BEFREE |
However, the recent documentation of abnormal elevation of FMR1 mRNA, discovery of fragile X-associated tremor/ataxia syndrome (FXTAS), and reports of psychiatric disorders in children and adults with the premutation have suggested a pathogenic gene-brain-behavior mechanism.
|
16184602 |
2005 |