|
Autistic Disorder
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
CYFIP2, encoding the evolutionary highly conserved cytoplasmic FMRP interacting protein 2, has previously been proposed as a candidate gene for intellectual disability and autism because of its important role linking FMRP-dependent transcription regulation and actin polymerization via the WAVE regulatory complex (WRC).
|
30664714 |
2019 |
|
Autistic Disorder
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Fragile X syndrome (FXS) is a common neurodevelopmental disease that often co-occurs with autism and is caused by the lack of fragile X mental retardation protein (FMRP) expression.
|
30056576 |
2019 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The functional absence of FMRP causes the fragile X syndrome (FXS), the most common form of inherited intellectual disability and the most common monogenic cause of autism.
|
30137253 |
2019 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The fragile X syndrome (FXS) arises from loss of expression or function of the FMR1 gene and is one of the most common monogenic forms of intellectual disability and autism.
|
29796988 |
2019 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We propose dividing syndromic autism into the following two groups: (i) ASD that occurs in the context of a clinically defined syndrome-recognizing these disorders depends on the familiarity of the clinician with the features of the syndrome, and the diagnosis is typically confirmed by targeted genetic testing (eg, mutation screening of FMR1); (ii) ASD that occurs as a feature of a molecularly defined syndrome-for this group of patients, ASD-associated variants are identified by genome-wide testing that is not hypothesis driven (eg, microarray, whole exome sequencing).
|
29398931 |
2017 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Fragile X Syndrome (FXS) is the main genetic cause of autism and intellectual deficiency resulting the absence of the Fragile X Mental Retardation Protein (FMRP).
|
28334053 |
2017 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |