Intellectual Disability
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Members of the AFF (AF4/FMR2) family of putative transcription factors are involved in infant acute leukaemia and intellectual disability (ID), although very little is known about their transcriptional targets.
|
25162227 |
2014 |
Intellectual Disability
|
0.100 |
Biomarker
|
group |
BEFREE |
We identified a polymorphic CGG repeat in a conserved, brain-active alternative promoter of the AFF3 gene, an autosomal homolog of the X-linked AFF2/FMR2 gene: Expansion of the AFF2 CGG repeat causes FRAXE ID.
|
24763282 |
2014 |
Intellectual Disability
|
0.100 |
Biomarker
|
group |
BEFREE |
These results suggest that FMR2 is an upstream regulator of FOS and JUN, and further link deregulation of the immediate early response genes to the pathology of ID- and FRAXE-associated ID in particular.
|
23562910 |
2013 |
Intellectual Disability
|
0.100 |
Biomarker
|
group |
BEFREE |
Distribution of CGG/GCC repeats at the FMR1 and FMR2 genes in an Indian population with mental retardation of unknown etiology.
|
21254876 |
2011 |
Intellectual Disability
|
0.100 |
Biomarker
|
group |
BEFREE |
AFF2/FMR2 is silenced in FRAXE intellectual disability, while the other three members have been reported to form fusion genes as a consequence of chromosome translocations with the myeloid/lymphoid or mixed lineage leukemia (MLL) gene in acute lymphoblastic leukemias (ALLs).
|
21330300 |
2011 |
Intellectual Disability
|
0.100 |
Biomarker
|
group |
BEFREE |
With the forthcoming identification of the gene targets that trigger Purkinje cell death in the robotic cerebellum, and the functional conservation among the ALF proteins, the robotic mouse promises to deliver important insights into the pathogenesis of human ataxia, but also of mental retardation to which FMR2 and LAF4 have been linked.
|
19340490 |
2009 |
Intellectual Disability
|
0.100 |
Biomarker
|
group |
BEFREE |
FRAXE is associated with X-linked non-specific mental retardation, and FRA11B with Jacobsen syndrome.
|
18078840 |
2008 |
Intellectual Disability
|
0.100 |
Biomarker
|
group |
BEFREE |
In contrast, a relationship between the second main group of fragile sites characterized by repeat expansion, the rare fragile sites, and mental retardation has been proposed many years ago, but after the molecular cloning of FRAXA and FRAXE both unequivocally involved in mental retardation, no additional fragile sites linked with mental retardation have been cloned for over a decade.
|
17567780 |
2007 |
Intellectual Disability
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Reverse transcriptase PCR studies on the FMR2 and FMR3 genes showed that only the FMR3 gene transcription was abolished, suggesting a possible causal relationship between the lack of FMR3 expression and mental retardation in this patient.
|
16469443 |
2006 |
Intellectual Disability
|
0.100 |
Biomarker
|
group |
BEFREE |
The mutated protein, Af4, is a member of the AF4/LAF4/FMR2 (ALF) family of putative transcription factors previously implicated in childhood leukaemia and FRAXE mental retardation.
|
16321881 |
2005 |
Intellectual Disability
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Here we report molecular screening survey of 97 unrelated individuals diagnosed with non-specific mental retardation (MR), which produced positive test for FRAXA in two boys and none positive for the FRAXE mutation.
|
14668200 |
2004 |
Intellectual Disability
|
0.100 |
GeneticVariation
|
group |
BEFREE |
FRAXE syndrome is distinct from fragile X syndrome, a more common genetic form of mental retardation caused by expansion and methylation of a similar repeat in the FMR1 gene located 600 kb proximal to FRAXE.
|
14526173 |
2003 |
Intellectual Disability
|
0.100 |
Biomarker
|
group |
BEFREE |
Three individuals (2.6%) with the FRAXA form of the fragile X syndrome and one boy (0.9%) with FRAXE mental retardation were detected; a total of four newly diagnosed fragile X families were identified.
|
12113322 |
2002 |
Intellectual Disability
|
0.100 |
Biomarker
|
group |
BEFREE |
Molecular screening of FRAXA and FRAXE in Indian patients with unexplained mental retardation.
|
12537661 |
2002 |
Intellectual Disability
|
0.100 |
GeneticVariation
|
group |
BEFREE |
So far, seven X-chromosomal genes mutated in nonspecific mental retardation (MRX) have been identified: FMR2, GDI1, RPS6KA3, IL1RAPL, TM4SF2, OPHN1 and PAK3 (refs 2-9).
|
11017088 |
2000 |
Intellectual Disability
|
0.100 |
Biomarker
|
group |
BEFREE |
If confirmed by future studies, these neurophysiological findings might be considered as a marker for FRAXE mental retardation.
|
10964075 |
2000 |
Intellectual Disability
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The aim of this population screening study was to determine if Fra-X or FRAXE mutations are the cause of a number of cases of mental retardation in a sample of Mexican children with mental retardation of unknown cause (MRUC) and to stress the importance of performing molecular analysis of the FMR-1 gene in all patients with MRUC.
|
10818218 |
2000 |
Intellectual Disability
|
0.100 |
GeneticVariation
|
group |
BEFREE |
A total of 321 patients with nonspecific MR were screened for the FMR1 and FMR2 mutation.
|
10850542 |
2000 |
Intellectual Disability
|
0.100 |
AlteredExpression
|
group |
BEFREE |
The presence of a phenotypically normal male with absent FMR2 expression in fibroblasts suggests that the relationship between the FRAXE mutation, FMR2 expression and MR needs to be further investigated.
|
10780779 |
2000 |
Intellectual Disability
|
0.100 |
Biomarker
|
group |
BEFREE |
This review summarises the new data on FRAXE associated mental retardation and the FMR2 gene in the light of the recent discoveries of new genes responsible for other forms of non-specific X-linked mental retardation.
|
11246464 |
2000 |
Intellectual Disability
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The transcriptional silencing of the FMR2 gene has been implicated in FRAXE mental retardation.
|
10651894 |
2000 |
Intellectual Disability
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We examined the prevalence of the fragile X mental retardation (FMR1) full mutation and fragile X E mutation (FMR2) among preschoolers evaluated for language delay.
|
9602188 |
1998 |
Intellectual Disability
|
0.100 |
Biomarker
|
group |
BEFREE |
Prevalence of fragile-X syndrome and FRAXE among children with intellectual disability in a Caribbean island, Guadeloupe, French West Indies.
|
9534118 |
1998 |
Intellectual Disability
|
0.100 |
Biomarker
|
group |
BEFREE |
FRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic population.
|
9523214 |
1998 |
Intellectual Disability
|
0.100 |
AlteredExpression
|
group |
BEFREE |
The FRAXE fragile site, 600 Kb distal to the more common FRAXA, has been reported to be expressed in subjects with mild nonsyndromal mental retardation.
|
9475603 |
1998 |