Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Fragile X syndrome (FXS), the most common cause of inherited intellectual disability, is due to the expansion over 200 CGGs and methylation of this polymorphic region, in the 5'-UTR (untranslated region) of FMR1 (Xq27.3).
|
27784894 |
2017 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Women who develop primary ovarian insufficiency related to a premutation in FMR1 are at risk of having a child with fragile X syndrome, the most common cause of inherited intellectual disability.
|
27827529 |
2017 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
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 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The fragile X mental retardation protein (FMRP) is lacking or mutated in patients with the fragile X syndrome (FXS), the most frequent form of inherited intellectual disability.
|
29144507 |
2017 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
We report here three FMR1 intragenic pathogenic variants not affecting this sequence, identified using high-throughput sequencing (HTS): a previously reported hemizygous deletion encompassing the last exon of FMR1, too small to be detected by array-CGH and inducing decreased expression of a truncated form of FMRP protein, in three brothers with ID (family 1) and two splice variants in boys with sporadic ID: a de novo variant c.990+1G>A (family 2) and a maternally inherited c.420-8A>G variant (family 3).
|
28176767 |
2017 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
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 |
Intellectual Disability
|
0.400 |
AlteredExpression
|
group |
BEFREE |
FMRP loss is phenocopied by conditional removal of FMRP only during this critical period, and rescued by FMRP conditional expression only during this critical period.
|
29375303 |
2017 |
Intellectual Disability
|
0.400 |
Biomarker
|
group |
BEFREE |
Aberrant MMP activity is implicated in fragile X syndrome (FXS), a disease caused by the loss of the RNA-binding protein FMRP and characterized by neurological dysfunction and intellectual disability.
|
29114039 |
2017 |
Intellectual Disability
|
0.400 |
Biomarker
|
group |
BEFREE |
Here we demonstrate the creation of a robust FMR1-Nluc reporter hiPSC line by knocking in a Nano luciferase (Nluc) gene into the endogenous human FMR1 gene using the CRISPR/Cas9 genome editing method.
|
27422057 |
2017 |
Intellectual Disability
|
0.400 |
Biomarker
|
group |
BEFREE |
The fragile X syndrome (FXS), the most common form of inherited intellectual disability, is due to the absence of FMRP, a protein regulating RNA metabolism.
|
28640668 |
2017 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Promoter methylation status of FMR1, mutations in its sequence and copy number variations (CNVs) in genes associated with intellectual disability were investigated.
|
27708271 |
2017 |
Intellectual Disability
|
0.400 |
Biomarker
|
group |
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 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Fragile X syndrome (FXS) is an inherited form of intellectual disability that is usually caused by expansion of a polymorphic CGG repeat in the 5' untranslated region of the X-linked FMR1 gene, which leads to hypermethylation and transcriptional silencing.
|
27643697 |
2017 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Fragile X syndrome is the most common inherited form of intellectual disability and results from a loss of function of the translational repressor FMRP.
|
27273094 |
2016 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Fragile X syndrome (FXS) is a common cause of intellectual disability that is most often due to a CGG-repeat expansion mutation in the FMR1 gene that triggers epigenetic gene silencing.
|
27768763 |
2016 |
Intellectual Disability
|
0.400 |
Biomarker
|
group |
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 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Fragile X syndrome (FXS) results from a repeat expansion mutation near the FMR1 gene promoter and is the most common form of heritable intellectual disability and autism.
|
28173181 |
2016 |
Intellectual Disability
|
0.400 |
Biomarker
|
group |
BEFREE |
Fragile X syndrome (FXS) is a common inherited form of intellectual disability caused by the absence or reduction of the fragile X mental retardation protein (FMRP) encoded by the FMR1 gene.
|
27616423 |
2016 |
Intellectual Disability
|
0.400 |
PosttranslationalModification
|
group |
BEFREE |
Epigenetic silencing of fragile X mental retardation 1 (FMR1) causes fragile X syndrome (FXS), a common inherited form of intellectual disability and autism.
|
27273096 |
2016 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Loss of function of the FMR1 gene leads to fragile X syndrome (FXS), the most common form of intellectual disability.
|
25693964 |
2015 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Fragile X syndrome (FXS), the most common inherited intellectual disability syndrome, is caused by expansion and hypermethylation of the CGG repeat in the 5' UTR of the FMR1 gene.
|
25953684 |
2015 |
Intellectual Disability
|
0.400 |
Biomarker
|
group |
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 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
We utilized a sample of 299 adult females aged between 19 and 86 years, carrying fragile X mental retardation (FMR1) alleles with small CCG expansions ranging from 50 to 141 repeats to analyse the relationships between psychological symptoms as assessed by the Symptom Checklist-90-Revised (SCL-90-R) and the size of the CGG repeat in the FMR1 gene.
|
24428240 |
2015 |
Intellectual Disability
|
0.400 |
Biomarker
|
group |
BEFREE |
Silencing of fragile X mental retardation 1 (FMR1) gene and loss of fragile X mental retardation protein (FMRP) cause fragile X syndrome (FXS), a genetic disorder characterized by intellectual disability and autistic behaviors.
|
25432536 |
2015 |
Intellectual Disability
|
0.400 |
Biomarker
|
group |
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 |