Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
AGG interspersion analysis of the FMR1 CGG repeats in mental retardation of unspecific cause.
|
16337617 |
2006 |
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 |
A total of 321 patients with nonspecific MR were screened for the FMR1 and FMR2 mutation.
|
10850542 |
2000 |
Intellectual Disability
|
0.400 |
AlteredExpression
|
group |
BEFREE |
The fragile X syndrome (FRAXA) is the most widespread heritable form of mental retardation caused by the lack of expression of the fragile X mental retardation protein (FMRP).
|
18616611 |
2008 |
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 |
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 |
Biomarker
|
group |
BEFREE |
The loss of FMRP causes dysregulation of many neuronal pathways and results in an intellectual disability disorder, fragile X syndrome (FXS).
|
30759772 |
2019 |
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 |
Loss of fragile X mental retardation protein (FMRP) causes synaptic dysfunction and intellectual disability.
|
24062571 |
2013 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
In fragile X syndrome, the most common genetic form of mental retardation, a CGG trinucleotide-repeat expansion adjacent to the fragile X mental retardation 1 (FMR1) gene promoter results in its epigenetic silencing.
|
24578575 |
2014 |
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 |
Biomarker
|
group |
BEFREE |
Absence of the FMR1 protein results in mental retardation.
|
12136110 |
2002 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Fragile X syndrome (FXS), caused by silencing of the Fmr1 gene, is the most common form of inherited mental retardation.
|
18832330 |
2009 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Fragile X syndrome is caused by mutations in the FMR1 gene and is one of the most frequent forms of inherited mental retardation in males.
|
9132500 |
1997 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The functional absence of FMRP causes the fragile X syndrome (FXS), the most common form of inherited intellectual disability and the most common monogenic cause of autism.
|
30137253 |
2019 |
Intellectual Disability
|
0.400 |
PosttranslationalModification
|
group |
BEFREE |
Hypermethylation of the FMR1 promoter reduces its transcriptional activity, resulting in the mental retardation and macroorchidism characteristic of Fragile X syndrome.
|
11058604 |
2001 |
Intellectual Disability
|
0.400 |
Biomarker
|
group |
BEFREE |
Two brothers were discordant for the region containing the FMR1 gene; if there is a common cause for the mental retardation this is not located in the FMR1 gene.
|
7942992 |
1994 |
Intellectual Disability
|
0.400 |
Biomarker
|
group |
BEFREE |
In patients with fragile X syndrome, the expanded CGG triplet repeats are hypermethylated and the expression of the FMR1 gene is repressed, which leads to the absence of FMR1 protein (FMRP) and subsequent mental retardation.
|
10767313 |
2000 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Fragile X syndrome is the most common inherited etiology of intellectual disability and results from a full mutation or >200 CGG repeats in FMR1.
|
29325626 |
2018 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
FRAXA coincides with a >200 CGG*CCG repeat tract in the 5' UTR of the FMR1 gene, and alleles prone to fragility are associated with Fragile X (FX) syndrome, one of the leading genetic causes of intellectual disability.
|
19465392 |
2009 |
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 |
LHGDN |
Although uncommon, point mutations in the FMR1 gene may be a cause of autism and mental retardation in Japanese patients.
|
15000256 |
2004 |
Intellectual Disability
|
0.400 |
Biomarker
|
group |
CTD_human |
FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism.
|
20425835 |
2010 |
Intellectual Disability
|
0.400 |
Biomarker
|
group |
LHGDN |
The active FMR1 promoter is associated with a large domain of altered chromatin conformation with embedded local histone modifications.
|
16891414 |
2006 |