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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Identification of expanded alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) study.
|
22767137 |
2013 |
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This finding indicates that the length of the CGG repeat within the FMR1 is unlikely to be responsible for autism in Japanese.
|
19211207 |
2010 |