Intellectual Disability
|
0.200 |
Biomarker
|
group |
HPO |
|
|
|
Intellectual Disability
|
0.200 |
Biomarker
|
group |
BEFREE |
Early this year, an X-chromosome-linked, Aristaless-related, homeobox gene, ARX, was found to be associated with both X-linked MR and epilepsy.
|
12689693 |
2003 |
Intellectual Disability
|
0.200 |
Biomarker
|
group |
BEFREE |
We compile data on several novel and some already identified patients with or without ID that carry duplications of ARX genomic region and consider likely genetic mechanisms underlying the neurodevelopmental defects.
|
26337422 |
2015 |
Intellectual Disability
|
0.200 |
Biomarker
|
group |
BEFREE |
Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.
|
16235064 |
2006 |
Intellectual Disability
|
0.200 |
Biomarker
|
group |
BEFREE |
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia.
|
21204215 |
2011 |
Intellectual Disability
|
0.200 |
Biomarker
|
group |
BEFREE |
We review the reported phenotypes of females with mutations in ARX and highlight the importance of screening ARX in male and female patients with ID, seizures, and in particular with complete ACC.
|
28150386 |
2017 |
Intellectual Disability
|
0.200 |
Biomarker
|
group |
LHGDN |
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation.
|
12736870 |
2003 |
Intellectual Disability
|
0.200 |
Biomarker
|
group |
LHGDN |
Our data suggest expansions in one of the ARX polyA tracts results in nuclear protein aggregation and an increase in cell death; likely underlying the pathogenesis of the associated infantile spasms and mental retardation.
|
15533998 |
2004 |
Intellectual Disability
|
0.200 |
Biomarker
|
group |
BEFREE |
Our data suggest expansions in one of the ARX polyA tracts results in nuclear protein aggregation and an increase in cell death; likely underlying the pathogenesis of the associated infantile spasms and mental retardation.
|
15533998 |
2004 |
Intellectual Disability
|
0.200 |
Biomarker
|
group |
BEFREE |
Meanwhile, polyalanine expansion of ARX causes symptomatic or nonsymptomatic West's syndrome and nonsyndromic mental retardation.
|
15921244 |
2005 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We review published cases of variants that lead to altered or early termination of the ARX protein, but not complete loss of function, and are associated with phenotypes of intellectual disability and infantile onset developmental and epileptic encephalopathies, including Ohtahara and West syndromes.
|
31145546 |
2019 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We propose a core pathway of transcription regulators, including Hdac4, involved in chromatin condensation and transcriptional repression, and one of its targets, the transcription factor Twist1, as potential drivers of the ID and infantile spasms in patients with ARX polyalanine expansion mutations.
|
27798109 |
2016 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Several mutations have been identified in ARX gene, which is responsible for a wide spectrum of phenotypes, including syndromic as well as non syndromic forms of mental retardation.
|
16762829 |
2006 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in the Aristaless-related homeobox gene, ARX, have been a cause of X-linked mental retardation (XLMR) and are responsible for a vast phenotypic spectrum including syndromic and non-syndromic forms of mental retardation.
|
17613295 |
2007 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The ARX and CDKL5 genes have been associated with West syndrome (infantile spasms, hypsarrhythmia, and mental retardation).
|
15689447 |
2005 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We have screened the entire coding sequences of the ARX gene in 65 Iranian families with intellectual disabilities in order to obtain the relative prevalence of ARX mutations.
|
22642246 |
2012 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
LHGDN |
Our results, the first in Latin America, reinforce the idea that ARX mutations are relevant to mental retardation and are indicative that molecular screening of exon 2 should be considered in males with mental retardation of unknown etiology, associated or not with neurological manifestations, especially in familial cases.
|
16845484 |
2006 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in the Aristaless-related homeobox gene (ARX) are associated with a wide variety of neurologic disorders including lissencephaly, hydrocephaly, West syndrome, Partington syndrome, and X-linked intellectual disability with or without epilepsy.
|
22252899 |
2012 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Aristaless-related homeobox (ARX) gene mutations cause a diverse spectrum of disorders of the human brain, including lissencephaly, various forms of epilepsy and non-syndromic mental retardation.
|
19738637 |
2010 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
ARX mutations have been associated with a wide spectrum of neurodevelopmental disorders in humans, among which the most frequent, a 24 bp duplication in the polyalanine tract 2 (c.428_451dup24), gives rise to intellectual disability, fine motor defects with or without epilepsy.
|
29659809 |
2018 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Our results, the first in Latin America, reinforce the idea that ARX mutations are relevant to mental retardation and are indicative that molecular screening of exon 2 should be considered in males with mental retardation of unknown etiology, associated or not with neurological manifestations, especially in familial cases.
|
16845484 |
2006 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We describe two brothers with mental retardation (MR) due to a c.428_451dup24 in the ARX gene.
|
16078051 |
2005 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
LHGDN |
Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX.
|
12142061 |
2002 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The c.429_452dup24 of the ARX gene is a rare genetic anomaly, leading to X-Linked Intellectual Disability without brain malformation.
|
24528893 |
2014 |
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
ARX is a crucial gene for the development of interneurons in the fetal brain, and a polyalanine expansion mutation of ARX causes mental retardation and seizures, including those of West syndrome, in males.
|
17668384 |
2007 |