|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Both the normal subjects and the patients with autism have 53 CGG repeats in FMR1, and the majority have two interspersed AGG.
|
9806479 |
1998 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Twenty individuals reported previously with rare missense or nonsense mutations or other coding disturbances of the FMR1 gene ranged in age from infancy to 50 years; most were verbal with limited speech, had autism and hyperactivity, and all had intellectual disability.
|
29178241 |
2018 |
|
Autistic Disorder
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Identifying these pathways is important for both understanding the effects of FMR1 inactivation and developing treatments for both FXS and autism.
|
27643697 |
2017 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
EIF4E mediated translation is the final common process modulated by the mammalian target of rapamycin (mTOR), PTEN and fragile X mental retardation protein (FMRP) pathways, which are implicated in autism.
|
19556253 |
2009 |
|
Autistic Disorder
|
0.500 |
PosttranslationalModification
|
disease |
BEFREE |
Epigenetic silencing of fragile X mental retardation 1 (FMR1) causes fragile X syndrome (FXS), a common inherited form of intellectual disability and autism.
|
27273096 |
2016 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Fragile X syndrome (FXS) results from a repeat expansion mutation near the FMR1 gene promoter and is the most common form of heritable intellectual disability and autism.
|
28173181 |
2016 |
|
Autistic Disorder
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Altered expression of several autism candidate genes such as FMR-1 and MECP2, could be detected in leukocytes.
|
21935445 |
2011 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Two different mutations in the FMR1 gene may lead to autism.
|
20643379 |
2010 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
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 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
The fragile X mental retardation 1 knockout (Fmr1 KO) mouse replicates behavioral deficits associated with autism, fragile X syndrome, and schizophrenia.
|
30176067 |
2019 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Fragile X syndrome (FXS), caused by the loss of functional FMRP, is a leading cause of autism.
|
28218269 |
2017 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
We examined autistic behavior in a cross-sectional sample of 179 children with fragile X syndrome (FXS) and a longitudinal subset of 116 children using the Childhood Autism Rating Scale (CARS) to (a) determine a prevalence of autistic behavior in FXS, (b) examine the stability of autistic ratings over time, and (c) assess the association between the fragile X mental retardation protein (FMRP) and autistic behavior.
|
16700053 |
2006 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
The aim of this study was to evaluate social anxiety and autism in FMR1 premutation carriers using the Social Phobia Inventory (SPIN) and the Autism-Spectrum Quotient (AQ) questionnaires.
|
27102723 |
2017 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
These variants were found in 82 genes that were enriched for gene sets previously identified in de novo studies of autism (19 observed vs. 10.9 expected, P = .0066) and schizophrenia (11 observed vs. 5.1 expected, P = .0062) and for targets of the fragile X mental retardation protein (FMRP) pathway (10 observed vs. 4.4 expected, P = .0076).
|
27120077 |
2016 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
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 |
|
Autistic Disorder
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Because it has been observed that brain metabolism of FMR1 null mice is more sensitive to oxidative stress, we propose that the deregulation of Sod1 expression may be at the basis of several traits of the physiopathology of the Fragile X syndrome, such as anxiety, sleep troubles, and autism.
|
19166269 |
2009 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
FXS is caused by a deficiency of the FMR1 protein (FMRP) leading to dysregulation of many genes that create a phenotype with ADHD, anxiety, and autism.
|
16511373 |
2006 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Notably, Top3β proteins bearing point mutations from schizophrenia and autism individuals are defective in association with FMRP; whereas one of the mutants is also deficient in binding mRNAs, catalyzing RNA topoisomerase reaction, and promoting synapse formation.
|
28039324 |
2017 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These contain many RNA-binding proteins, including the Fragile X Mental Retardation Protein (FMRP), the absence of which results in Fragile X Syndrome, the most common inherited form of intellectual disability and the leading genetic cause of autism.
|
27462983 |
2016 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Translationally regulated transcripts are also more likely to be targets of FMRP and include genes implicated in autism in humans.
|
28190998 |
2017 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The base change is at a position where it is unlikely to affect splicing of the FMR-1 transcript and is most likely a neutral variant that has only a spurious false positive association with autism.
|
9118347 |
1996 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our laboratory has recently demonstrated altered expression of four downstream targets of FMRP-mGluR5 signaling in brains of subjects with autism: homer 1, amyloid beta A4 precursor protein (APP), ras-related C3 botulinum toxin substrate 1 (RAC1), and striatal-enriched protein tyrosine phosphatase (STEP).
|
25956630 |
2015 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Studies of the FMR1 gene on Xq27 have shown that occasionally individuals, and particularly females, with the [CGG] repeat expansion and methylation mutation may present with autistic symptoms.
|
14755444 |
2004 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Fragile X mental retardation protein (FMRP) loss causes Fragile X syndrome (FXS), a major disorder characterized by autism, intellectual disability, hyperactivity, and seizures.
|
28887386 |
2017 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here, we showed that the homeostatic synaptic downscaling is absent in the hippocampal neurons of Fmr1 KO mice, the mouse model of the most common inherited autism, fragile X syndrome (FXS).
|
29771335 |
2018 |