|
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This finding is in agreement with the hypothesis that the incidence of intermediate FMR1 alleles in MRX populations does not seem to be higher than in control populations, and it emphasizes the importance of FMRP detection as a diagnostic tool for fragile X syndrome.
|
11030419 |
2000 |
|
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The FXR proteins are associated with 60S ribosomal subunits even in cells that lack FMR1 and that are derived from a fragile X syndrome patient, indicating that FMR1 is not required for this association.
|
8668200 |
1996 |
|
Fragile X Syndrome
|
1.000 |
PosttranslationalModification
|
disease |
BEFREE |
Fragile X syndrome is associated with the expansion of CGG trinucleotide repeats and subsequent methylation of the FMR1 gene.
|
21430544 |
2011 |
|
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The FMRP antibody test on hair roots is suitable in a screening program for the fragile X syndrome among mentally retarded males attending special education schools.
|
11078558 |
2000 |
|
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Fragile X syndrome is caused by the absence or reduction of the fragile X mental retardation protein (FMRP) because FMR1 gene expression is reduced.
|
17449730 |
2007 |
|
Fragile X Syndrome
|
1.000 |
PosttranslationalModification
|
disease |
BEFREE |
FXS molecular testing relied on PCR and methylation-specific Southern blot analysis of the FMR1 5'UTR.
|
29170104 |
2018 |
|
Fragile X Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Characteristics of fragile X syndrome include macroorchidism and intellectual disability, which are associated with decreased FMRP levels.
|
24903624 |
2014 |
|
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments.
|
15741991 |
2005 |
|
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
In addition to the results demonstrating the involvement of MECP2 in MRX, this study shows that the frequency of mutations in MECP2 in the mentally retarded population screened for the fragile X syndrome is comparable to the frequency of the CGG expansions in FMR1.
|
11309367 |
2001 |
|
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fragile X syndrome (FXS), the most common cause of inherited mental impairment, is most commonly related to hyperexpansion and hypermethylation of a polymorphic CGG trinucleotide repeat in the 5' untranslated region of the FMR1 gene.
|
16793928 |
2006 |
|
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hairpin and tetrahelical structures of a d(CGG)(n) sequence in the FMR1 gene have been implicated in its expansion in fragile X syndrome.
|
10924524 |
2000 |
|
Fragile X Syndrome
|
1.000 |
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 |
|
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We examined autistic behavior in a cross-sectional sample of 179 children with fragile X syndrome (FXS) and a longitudinal subset of 116 children using the Childhood Autism Rating Scale (CARS) to (a) determine a prevalence of autistic behavior in FXS, (b) examine the stability of autistic ratings over time, and (c) assess the association between the fragile X mental retardation protein (FMRP) and autistic behavior.
|
16700053 |
2006 |
|
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States.
|
21116185 |
2011 |
|
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Thus we have examined changes in mGlu5 function in the PFC in a mouse model of FXS (Fmr1 knockout) during early adulthood and subsequent maturity.
|
27797833 |
2017 |
|
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recurrent and unexpected segregation of the FMR1 CGG repeat in a family with fragile X syndrome.
|
8834253 |
1996 |
|
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study, 40 families segregating for fragile X [fra (X)] syndrome were examined for the presence of a mutation within the FMR-1 gene.
|
1605198 |
1992 |
|
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
FXR1 and FXR2 are thus likely to play important roles in the function of FMR1 and in the pathogenesis of the Fragile X Mental Retardation Syndrome.
|
7489725 |
1995 |
|
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fragile X syndrome is associated with massive expansion of a CGG trinucleotide repeat within the FMR-1 gene and transcriptional silencing of the gene due to abnormal methylation.
|
8358432 |
1993 |
|
Fragile X Syndrome
|
1.000 |
PosttranslationalModification
|
disease |
BEFREE |
Here, we provide a direct proof that the formation of hairpins by (GCC)n at the 5'-UTR of the FMR-1 gene offers a mechanism for CpG hypermethylation associated with the fragile X syndrome.
|
9761677 |
1998 |
|
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The cytoplasmic FMR1-interacting protein family (CYFIP1 and CYFIP2) are evolutionarily conserved proteins originally identified as binding partners of the fragile X mental retardation protein (FMRP), a messenger RNA (mRNA)-binding protein whose loss causes the fragile X syndrome.
|
30982501 |
2019 |
|
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fragile X syndrome (FXS) and associated disorders are caused by expansion of the cytosine-guanine-guanine (CGG) trinucleotide repeat in the 5' untranslated region (UTR) of the Fragile X mental retardation-1 (FMR1) gene promoter.
|
31566610 |
2019 |
|
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification of the FMR1 gene and the repeat-amplification mechanism causing fragile X syndrome led to development of reliable DNA-based diagnostic methods, including Southern blot hybridization and PCR.
|
10364521 |
1999 |
|
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Synaptic ionotropic glutamate receptors and plasticity are developmentally altered in the CA1 field of Fmr1 knockout mice.
|
19103683 |
2009 |