|
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 |
In addition, we showed that Fragile X Mental Retardation gene 1 (Fmr1), which is mutated in the autism spectrum disorder fragile X syndrome, is an important regulatory target for miR-129-5p.
|
30911036 |
2019 |
|
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 |
|
Autism Spectrum Disorders
|
0.300 |
Biomarker
|
disease |
BEFREE |
Using the Drosophila FXS disease model, we discover FMRP positively regulates the translation of the very large A-Kinase Anchor Protein (AKAP) Rugose (>3000 aa), homolog of ASD-associated human Neurobeachin (NBEA).
|
30771457 |
2019 |
|
Autism Spectrum Disorders
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Here, we provide a systematic review of findings obtained from <i>in vivo</i> imaging studies of mouse models of neurodevelopmental disorders, including the monogenic disorders fragile X syndrome, Rett syndrome, and Angelman syndrome, which are caused by genetic abnormalities of <i>FMR1, MECP2</i>, and <i>UBE3A</i>, as well as disorders caused by copy number variations (15q11-13 duplication and 22q11.2 deletion) and BTBR mice as an inbred strain model of autism spectrum disorder (ASD).
|
29970983 |
2018 |
|
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 |
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 |
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 |
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 |
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 |
|
Autism Spectrum Disorders
|
0.300 |
Biomarker
|
disease |
BEFREE |
Neuronal deficit of FMRP and shrinkage of affected neurons in structures free of FMRP-positive astrocytes and regions infiltrated with FMRP-expressing astrocytes appear to reflect mechanistic, neuropathological, and functional commonalities of FMRP abnormalities in FXS and autism spectrum disorder.Autism Res 2018, 11: 1316-1331.
|
30107092 |
2018 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Silencing expression of the Fragile X mental retardation 1 (<i>FMR1</i>) gene leads to Fragile X syndrome (FXS), the most common single gene cause of ID and ASD.
|
30135642 |
2018 |
|
Autism Spectrum Disorders
|
0.300 |
Biomarker
|
disease |
BEFREE |
This review discusses studies conducted in the mouse models of five major monogenic causes of ID and ASDs: Fmr1, Syngap1, Mecp2, Shank2/3 and Neuroligins/Neurnexins.
|
31185809 |
2019 |
|
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 |
Fragile X syndrome (FXS), a heritable intellectual and autism spectrum disorder (ASD), results from the loss of Fragile X mental retardation protein (FMRP).
|
28826631 |
2017 |
|
Autism Spectrum Disorders
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Premutation carriers of the FMR1 gene (CGG repeats between 55 and 200) usually have normal intellectual abilities but approximately 20% are diagnosed with developmental problems or autism spectrum disorder.
|
30385191 |
2019 |
|
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 |
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 |
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 |
BEFREE |
This study was designed to (1) describe ASD symptoms in adolescent and young adult males with FXS (n = 44) and (2) evaluate the contributions to ASD severity of cognitive, language, and psychiatric factors, as well as FMRP (the protein deficient in FXS).
|
30382442 |
2019 |
|
Autism Spectrum Disorders
|
0.300 |
Biomarker
|
disease |
BEFREE |
Similarly, somatosensory hypersensitivity has also been described in mice lacking ASD-associated genes such as <i>Fmr1</i> (fragile X mental retardation protein 1).
|
30593497 |
2019 |
|
Autism Spectrum Disorders
|
0.300 |
Biomarker
|
disease |
BEFREE |
To better understand the degree and extent to which individual genes associated with ASD differ in their contribution to global measures of white matter microstructure, diffusion tensor imaging (DTI) was acquired from three novel rat genetic models of ASD (Fmr1, Nrxn1, and Pten) and DTI parameters of fractional anisotropy, mean, axial, and radial diffusivity were measured.
|
30557783 |
2019 |
|
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 |
MGD |
|
|
|