|
Autistic Disorder
|
0.400 |
Biomarker
|
disease |
BEFREE |
Candidates supported by both FTND and TTFC (CHRNA4, THSD7B, RBFOX1, and ZNF804A) were associated with addiction to alcohol, cocaine, and heroin, and were associated with autism and schizophrenia.
|
31294817 |
2019 |
|
Autistic Disorder
|
0.400 |
Biomarker
|
disease |
BEFREE |
Studies in mice and humans have implicated Rbfox1/RBFOX1 in autism, neuronal excitation and epilepsy, and Rbfox2/RBFOX2 in cerebellar development.
|
30634066 |
2019 |
|
Autistic Disorder
|
0.400 |
Biomarker
|
disease |
BEFREE |
Cytoplasmic Rbfox1 target mRNAs were enriched in genes involved in cortical development and autism.
|
26687839 |
2016 |
|
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Partial deletions of the RBFOX1 gene encoding the neuronal splicing regulator have been reported in a range of neurodevelopmental diseases including idiopathic/genetic generalized epilepsy (IGE/GGE), childhood focal epilepsy, and self-limited childhood benign epilepsy with centrotemporal spikes (BECTS, rolandic epilepsy), and autism.
|
26174448 |
2015 |
|
Autistic Disorder
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
We were not able to replicate in lymphoblastoid cell lines the previously reported RBFOX1 gene downregulation in autism, even if a trend was observed.
|
24938762 |
2015 |
|
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genome-wide genetic approaches have linked the Rbfox1 gene to autism, and a brain-specific knockout mouse revealed a critical role for this splicing regulator in neuronal function.
|
25575511 |
2015 |
|
Autistic Disorder
|
0.400 |
Biomarker
|
disease |
BEFREE |
The RNA binding proteins Rbfox1/2/3 regulate alternative splicing in the nervous system, and disruption of Rbfox1 has been implicated in autism.
|
24613350 |
2014 |
|
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Notably, the patient reported here also has a partial deletion of RBFOX1 (A2BP1), which lies within the autism susceptibility locus on 16p13.2.
|
21994138 |
2011 |
|
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We further identify discrete modules of co-expressed genes associated with autism: a neuronal module enriched for known autism susceptibility genes, including the neuronal specific splicing factor A2BP1 (also known as FOX1), and a module enriched for immune genes and glial markers.
|
21614001 |
2011 |
|
Autistic Disorder
|
0.400 |
Biomarker
|
disease |
CTD_human |
Identifying autism loci and genes by tracing recent shared ancestry.
|
18621663 |
2008 |
|
Autistic Disorder
|
0.400 |
Biomarker
|
disease |
CTD_human |
Because of emerging evidence in the role of RNA processing and gene regulation in pervasive developmental disorders, we performed further screening of A2BP1 in additional individuals with autism from the Autism Genetics Resource Exchange (AGRE) collection.
|
17503474 |
2007 |
|
Autistic Disorder
|
0.400 |
Biomarker
|
disease |
BEFREE |
Because of emerging evidence in the role of RNA processing and gene regulation in pervasive developmental disorders, we performed further screening of A2BP1 in additional individuals with autism from the Autism Genetics Resource Exchange (AGRE) collection.
|
17503474 |
2007 |
|
Seizures
|
0.320 |
GeneticVariation
|
phenotype |
BEFREE |
The deletion of the Rbfox1 gene in mice has been shown to result in heightened susceptibility to seizures.
|
25571999 |
2015 |
|
Seizures
|
0.320 |
Biomarker
|
phenotype |
BEFREE |
Consistently, the Rbfox1 knockout mouse model showed an increased susceptibility of seizures.
|
23350840 |
2013 |
|
Seizures
|
0.320 |
Biomarker
|
phenotype |
CTD_human |
Thus, Rbfox1 directs a genetic program required in the prevention of neuronal hyperexcitation and seizures.
|
21623373 |
2011 |
|
Jacksonian Seizure
|
0.300 |
Biomarker
|
disease |
CTD_human |
The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain.
|
21623373 |
2011 |
|
Complex partial seizures
|
0.300 |
Biomarker
|
disease |
CTD_human |
The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain.
|
21623373 |
2011 |
|
Generalized seizures
|
0.300 |
Biomarker
|
disease |
CTD_human |
The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain.
|
21623373 |
2011 |
|
Clonic Seizures
|
0.300 |
Biomarker
|
disease |
CTD_human |
The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain.
|
21623373 |
2011 |
|
Visual seizure
|
0.300 |
Biomarker
|
disease |
CTD_human |
The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain.
|
21623373 |
2011 |
|
Tonic Seizures
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain.
|
21623373 |
2011 |
|
Epileptic drop attack
|
0.300 |
Biomarker
|
disease |
CTD_human |
The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain.
|
21623373 |
2011 |
|
Seizures, Somatosensory
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain.
|
21623373 |
2011 |
|
Seizures, Auditory
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain.
|
21623373 |
2011 |
|
Olfactory seizure
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain.
|
21623373 |
2011 |