|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
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 |
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 |
CTD_human |
Identifying autism loci and genes by tracing recent shared ancestry.
|
18621663 |
2008 |
|
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 |
CTD_human |
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 |
CTD_human |
FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism.
|
20425835 |
2010 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
In this study, we evaluated 203 Thai children who met the criteria of the Diagnostic and Statistical Manual of Mental Disorders, 4th edition (DSM-IV), for autistic disorder or pervasive developmental disorder not otherwise specified (PDD-NOS), and who had neither major dysmorphic features nor CGG repeat expansions of the FMR1 gene.
|
25171325 |
2014 |
|
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
We identified 68 genes that were dysregulated in common between autism with FMR1-FM and dup(15q).
|
17519220 |
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 |
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 |
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 |
FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism.
|
21784246 |
2011 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
We identify FAM120C as a novel X-linked candidate gene for autism for two reasons: first, a larger deletion encompassing FAM120C segregates with autism in a previously reported family and second, there is recent evidence that FAM120C interacts with CYFIP1, part of the FMRP (Fragile X Mental Retardation Protein) network.
|
25258334 |
2014 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Twenty-two members of 18 families with autism have been examined for the presence of mutations and abnormal methylation in the FMR-1 region at Xq27.3.
|
1481857 |
1992 |
|
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 |