Autism Spectrum Disorders
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0.300 |
GeneticVariation
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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.
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30911036 |
2019 |
Autism Spectrum Disorders
|
0.300 |
Biomarker
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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).
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30771457 |
2019 |
Autism Spectrum Disorders
|
0.300 |
Biomarker
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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.
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31185809 |
2019 |
Autism Spectrum Disorders
|
0.300 |
GeneticVariation
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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.
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30385191 |
2019 |
Autism Spectrum Disorders
|
0.300 |
Biomarker
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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).
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30382442 |
2019 |
Autism Spectrum Disorders
|
0.300 |
Biomarker
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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).
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30593497 |
2019 |
Autism Spectrum Disorders
|
0.300 |
Biomarker
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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 |
AlteredExpression
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disease |
BEFREE |
CYFIP1, a protein that interacts with FMRP and regulates protein synthesis and actin dynamics, is overexpressed in Dup15q syndrome as well as autism spectrum disorder (ASD).
|
31198525 |
2019 |
Autism Spectrum Disorders
|
0.300 |
GeneticVariation
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disease |
BEFREE |
Mutations in FMR1 gene is the cause of Fragile X Syndrome (FXS) leading inherited cause of intellectual disability and autism spectrum disorders.
|
31280136 |
2019 |
Autism Spectrum Disorders
|
0.300 |
Biomarker
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disease |
BEFREE |
Overall, a synaptic pathway centered around FMR1, CYFIP1, and NLG3 is likely to contribute to the phenotypes associated with structural and physiological plasticity characteristic of ASD.
|
31705895 |
2019 |
Autism Spectrum Disorders
|
0.300 |
GeneticVariation
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disease |
BEFREE |
Lack or mutations of FMRP lead to Fragile X Syndrome (FXS), the most common form of inherited intellectual disability and a leading monogenic cause of autism spectrum disorder (ASD).
|
30905341 |
2019 |
Autism Spectrum Disorders
|
0.300 |
GeneticVariation
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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 |
Biomarker
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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 |
GeneticVariation
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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 |
Stored oocytes lacking FMR1 usually generate embryos with severe neural defects, unlike stored wild-type oocytes, which suggests that translation of multiple large proteins by stored mRNAs is defective in fragile X syndrome and possibly other autism spectrum disorders.
|
30115809 |
2018 |
Autism Spectrum Disorders
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Fragile X Syndrome (FXS) is the leading cause of autism spectrum disorder and intellectual disability and results from loss of Fragile X mental retardation protein (FMRP).
|
29128904 |
2018 |
Autism Spectrum Disorders
|
0.300 |
Biomarker
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disease |
BEFREE |
Transcriptional and translational programs that are downstream targets of highly ASD-penetrant FMR1 and CHD8 genes are also heavily affected by MIA.
|
28322282 |
2018 |
Autism Spectrum Disorders
|
0.300 |
GeneticVariation
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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 |
GeneticVariation
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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 |
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 |
The leading cause of heritable intellectual disability (ID) and autism spectrum disorders (ASD), Fragile X syndrome (FXS), is caused by loss of the mRNA-binding translational suppressor Fragile X Mental Retardation Protein (FMRP).
|
28819289 |
2017 |
Autism Spectrum Disorders
|
0.300 |
Biomarker
|
disease |
BEFREE |
This study reveals an unexpected new phenotype in a physical property of central neurons lacking FMRP that could underlie aspects of FXS disruption of neural function.<b>SIGNIFICANCE STATEMENT</b> FXS is a leading heritable cause of intellectual disability and autism spectrum disorders.
|
28887386 |
2017 |
Autism Spectrum Disorders
|
0.300 |
Biomarker
|
disease |
BEFREE |
The results indicate the involvement of FMRP-targeted transcripts in ASD in common genetic variation.
|
28422133 |
2017 |
Autism Spectrum Disorders
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Fragile-X syndrome (FXS) patients display intellectual disability and autism spectrum disorder due to silencing of the X-linked, fragile-X mental retardation-1 (FMR1) gene.
|
29116166 |
2017 |
Autism Spectrum Disorders
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Fragile X mental retardation protein (FMRP) sculpts synaptic refinement in an activity sensor mechanism based on sensory cues, with FMRP loss causing the most common heritable autism spectrum disorder (ASD), fragile X syndrome (FXS).
|
28756946 |
2017 |