|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The early detection of premutation carriers for the FMR1 gene among individuals diagnosed with fibromyalgia is important and would be helpful in correct genetic counseling of patients and their families, who may be at risk of having children with fragile X syndrome, the most common known cause of inherited intellectual disability and autism.
|
22903700 |
2012 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Women who were carriers of FMR1 in its premutation state were compared with mothers of individuals with autism, and controls in an attempt to determine whether subtle features of the broad autism phenotype may express at elevated rates among FMR1 premutation carriers.
|
22693142 |
2012 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Slack activity is enhanced by interaction with the Fragile-X-Mental-Retardation-Protein (FMRP) and loss of FMRP leads to decreased sodium-activated potassium currents in medial nucleus of the trapezoid body neurons of the Fmr1-knockout (KO) mouse representing a mouse model of the human Fragile-X-Syndrome (FXS) and autism.
|
29859980 |
2018 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Importantly, we validated that elevating neural network activity requires protein translation and is dependent on fragile X mental retardation protein (FMRP), the protein that is deficient in the most common inherited form of mental retardation and autism, fragile X syndrome (FXS).
|
29016848 |
2017 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
We also emphasize that FXS offers a unique molecular model for autism since FMRP regulates the translation of many other genes involved in synaptic formation and plasticity which should be natural targets for further exploration.
|
17097142 |
2007 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Absence of the associated protein FMRP leads to the dysregulation of many genes creating a phenotype of ADHD, anxiety, epilepsy and autism.
|
19724010 |
2009 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
This immunocytochemical study revealed neuronal FMRP deficits and shrinkage of deficient neurons in the cerebral cortex, subcortical structures, and cerebellum in subjects with idiopathic and dup(15)/autism.
|
30107092 |
2018 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Since the absence of FMRP leads to Fragile X Syndrome (FXS) and autism, FMRP has been extensively studied in brain.
|
30686771 |
2019 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
CTD_human |
Previously, we have screened autism probands for mutations in regions of the FMR1 gene downstream of the [CGG] repeat and identified an intronic variant in the FMR1 gene, IVS10 + 14C-T, which was present at a significantly higher frequency in autistic individuals compared to controls individuals.
|
14755444 |
2004 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
The activity-dependent transcription factor myocyte enhancer factor 2 (MEF2) induces excitatory synapse elimination in mouse neurons, which requires fragile X mental retardation protein (FMRP), an RNA-binding protein implicated in human cognitive dysfunction and autism.
|
23260144 |
2012 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
The mechanism of pathogenesis contributing significantly to our patient's clinical findings may relate to interaction between TOP3B and fragile X mental retardation protein (FMRP), an mRNA-binding protein that regulates translation and is altered in fragile X syndrome, a condition involving developmental delay, learning disability, and autism.
|
27880953 |
2016 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
The fragile X mental retardation 1 gene (FMR1)-related disorder fragile X syndrome (FXS) is the most common heritable form of cognitive impairment and the second most common cause of comorbid autism.
|
30084485 |
2019 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
These results enable us to reject the hypothesis that multiplex autism arises from expansion of the (CGG)n trinucleotide repeat in FMR-1.(ABSTRACT TRUNCATED AT 250 WORDS)
|
7977358 |
1994 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
A major research priority has been the identification of the mRNA targets of FMRP, particularly as recent studies suggest an excess of FMRP targets among genes implicated in idiopathic autism and schizophrenia.
|
24876161 |
2014 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
As a result, the loss of FMRP impairs these signaling controls and eventually causes FXS-associated disorders, such as autism and mental retardation.
|
26663181 |
2015 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
CTD_human |
Identifying autism loci and genes by tracing recent shared ancestry.
|
18621663 |
2008 |
|
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 |
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 |
Biomarker
|
disease |
CTD_human |
Although uncommon, point mutations in the FMR1 gene may be a cause of autism and mental retardation in Japanese patients.
|
15000256 |
2004 |
|
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 |
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 |