|
Autism Spectrum Disorders
|
0.300 |
Biomarker
|
disease |
MGD |
|
|
|
|
Autism Spectrum Disorders
|
0.300 |
AlteredExpression
|
disease |
BEFREE |
Discussion includes the impact of molecular variables including lowered FMR1 protein and elevated FMR1 mRNA in addition to environmental factors leading to the complex neurodevelopmental disorder of ASD.
|
15613987 |
2004 |
|
Autism Spectrum Disorders
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene are associated with autism spectrum disorder in childhood, premature ovarian failure, and the neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS).
|
17166860 |
2007 |
|
Autism Spectrum Disorders
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
The mutations in the FMR1 gene have been described as a family of disorders called fragile X-associated disorders including fragile X syndrome, fragile X-associated tremor/ataxia syndrome, primary ovarian insufficiency, and other problems associated with the premutation, such as hypothyroidism, hypertension, neuropathy, anxiety, depression, attention-deficit hyperactivity disorders, and autism spectrum disorders.
|
19996900 |
2009 |
|
Autism Spectrum Disorders
|
0.300 |
Biomarker
|
disease |
BEFREE |
Loss of FMRP causes fragile X syndrome (FraX), the most commonly inherited form of mental retardation and autism spectrum disorders.
|
19214804 |
2009 |
|
Autism Spectrum Disorders
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Here, we review the existing data on the phenotypes of mice carrying mutations in genes associated with ASD including neuroligin, neurexin and Shank mutant mice as well as the Fmr1, Mecp2, Ube3a, Nf1, Pten and Tsc1/Tsc2 mutant mice.
|
21328568 |
2011 |
|
Autism Spectrum Disorders
|
0.300 |
Biomarker
|
disease |
BEFREE |
FMRP interacts with the coding region of transcripts encoding pre- and postsynaptic proteins and transcripts implicated in autism spectrum disorders (ASD).
|
21784246 |
2011 |
|
Autism Spectrum Disorders
|
0.300 |
Biomarker
|
disease |
BEFREE |
Among highly enriched targets, we identify many genes involved in ASD and show that FMRP affects their protein levels in human cell culture, mouse ovaries and human brain.
|
23235829 |
2012 |
|
Autism Spectrum Disorders
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Fragile X syndrome (FXS), caused by loss of the Fragile X Mental Retardation 1 (FMR1) gene product (FMRP), is the most common heritable cause of intellectual disability and autism spectrum disorders.
|
22080836 |
2012 |
|
Autism Spectrum Disorders
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
We, therefore, determined the prevalence of seizures and ASD in boys with the FMR1 premutation compared with their sibling counterparts and population prevalence estimates.
|
22001913 |
2012 |
|
Autism Spectrum Disorders
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Fragile X syndrome, the leading inherited cause of mental retardation and autism spectrum disorders worldwide, is caused by a tandem repeat expansion in the FMR1 (fragile X mental retardation 1) gene.
|
23719910 |
2013 |
|
Autism Spectrum Disorders
|
0.300 |
Biomarker
|
disease |
BEFREE |
We developed the hypothesis that FMRP targets contribute to ASD via two distinct etiologies: (1) ultra-rare and highly penetrant single disruptions of embryonically upregulated FMRP targets ("single-hit etiology") or (2) the combination of multiple less penetrant disruptions of nonembryonic, synaptic FMRP targets ("multiple-hit etiology").
|
24207117 |
2013 |
|
Autism Spectrum Disorders
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
This study is focused on determining the prevalence of the FMR1 gene mutation among ASD cases in Indonesia.
|
23320543 |
2013 |
|
Autism Spectrum Disorders
|
0.300 |
Biomarker
|
disease |
BEFREE |
Examples include CAPRIN1 and AFF2 (both linked to FMR1, which is involved in fragile X syndrome), VIP (involved in social-cognitive deficits), and other genes such as SCN2A and KCNQ2 (linked to epilepsy), NRXN1, and CHD7, which causes ASD-associated CHARGE syndrome.
|
23849776 |
2013 |
|
Autism Spectrum Disorders
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
By applying a robust indel detection method to WES data from 787 ASD families (2,963 individuals), we demonstrate that de novo frameshift indels contribute to ASD risk (OR = 1.6; 95% CI = 1.0-2.7; p = 0.03), are more common in female probands (p = 0.02), are enriched among genes encoding FMRP targets (p = 6 × 10(-9)), and arise predominantly on the paternal chromosome (p < 0.001).
|
25284784 |
2014 |
|
Autism Spectrum Disorders
|
0.300 |
Biomarker
|
disease |
RGD |
FMRP, a protein with numerous proposed functions including regulation of mRNA and synaptic protein synthesis, and NLGN3, a member of the neuroligin synaptic cell-adhesion protein family, have been implicated in human ASD.
|
24773431 |
2014 |
|
Autism Spectrum Disorders
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Large expansions of a CGG-repeat element (>200 repeats; full mutation) in the fragile X mental retardation 1 (FMR1) gene cause fragile X syndrome (FXS), the leading single-gene form of intellectual disability and of autism spectrum disorder.
|
24463622 |
2014 |
|
Autism Spectrum Disorders
|
0.300 |
Biomarker
|
disease |
BEFREE |
Thereby we highlight a role for FMRP network genes in ASD.
|
25258334 |
2014 |
|
Autism Spectrum Disorders
|
0.300 |
Biomarker
|
disease |
BEFREE |
The predicted impact on transcription through the ASD associated EIF4E variants rs4699369T and rs12498533G as well as the association of the EIF4E interaction partners FMRP and CYFIP1 with ASD point to an mRNA mediated pathomechanism for ASD.
|
24818597 |
2014 |
|
Autism Spectrum Disorders
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Individuals with autism spectrum disorders (ASD) who have an identifiable single-gene neurodevelopmental disorder (NDD), such as fragile X syndrome (FXS, FMR1), Smith-Magenis syndrome (SMS, RAI1), or 2q23.1 deletion syndrome (del 2q23.1, MBD5) share phenotypic features, including a high prevalence of sleep disturbance.
|
25271084 |
2015 |
|
Autism Spectrum Disorders
|
0.300 |
Biomarker
|
disease |
BEFREE |
Cytoplasmic FMR1-interacting protein 1 (CYFIP1) is of particular interest because of its interaction with Fragile X mental retardation protein (FMRP), its upregulation in transformed lymphoblastoid cell lines from patients with duplications at 15q11-13 and ASD and the presence of smaller overlapping deletions of CYFIP1 in patients with schizophrenia and intellectual disability.
|
25311365 |
2015 |
|
Autism Spectrum Disorders
|
0.300 |
Biomarker
|
disease |
BEFREE |
Our findings provide insight to aid identification of molecular and cellular dysfunctions arising from Fmr1 silencing and for uncovering shared pathologies between Fragile X syndrome and other autism spectrum disorders.
|
25849048 |
2015 |
|
Autism Spectrum Disorders
|
0.300 |
Biomarker
|
disease |
BEFREE |
These networks contain a number of autism-relevant genes as well as previously identified targets of other important RNAbps implicated in autism spectrum disorder (ASD) including RBFOX1 and FMRP.
|
27260404 |
2016 |
|
Autism Spectrum Disorders
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
The absence of fragile X mental retardation 1 protein (FMRP) results in fragile X syndrome (FXS) that is a common cause of intellectual disability and a variant of autism spectrum disorder.
|
26709905 |
2016 |
|
Autism Spectrum Disorders
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Considering evidence of strong genetic effects for ASD and findings that distinct phenotypes in ASD associate with specific genetic events, we examined rates of parent-reported regression in the Simons Simplex Collection with likely gene disrupting mutations from five distinct classes: FMRP target genes, genes encoding chromatin modifiers, genes expressed preferentially in embryos, genes encoding postsynaptic density proteins, and essential genes.
|
28856484 |
2017 |