Property Summary

NCBI Gene PubMed Count 73
PubMed Score 150.14
PubTator Score 289.00

Knowledge Summary


No data available


  Differential Expression (12)

Disease log2 FC p
astrocytic glioma -3.000 1.5e-03
ependymoma -3.700 4.9e-04
oligodendroglioma -2.600 6.5e-03
glioblastoma -3.000 6.3e-03
medulloblastoma -4.400 3.2e-06
atypical teratoid / rhabdoid tumor -1.900 3.3e-02
medulloblastoma, large-cell -4.100 4.8e-03
pilocytic astrocytoma -2.600 3.2e-03
ovarian cancer -5.000 2.8e-17
pituitary cancer -1.900 6.8e-05
chronic rhinosinusitis -1.349 1.6e-02
cystic fibrosis and chronic rhinosinusit... -1.486 2.8e-02

Gene RIF (60)

26633894 ARX plays a key role in pancreatic endocrine fate specification of pancreatic polypeptide, somatostatin, glucagon and insulin positive cells from human embryonic stem cells.
26337422 Neurodevelopmental disturbances in the patients may not simply arise from increased dosage due to ARX duplication.
25171319 an expansion of 7 alanines in the first polyalanine tract of both human ARX and mouse Arx altered enteroendocrine differentiation; conclude ARX/Arx is required for the specification of a subset of enteroendocrine cells in both humans and mice
25044608 ARX duplication does not inevitably have detrimental effects on brain development, in contrast with the effects of ARX haploinsufficiency.
24794919 The data of this study suggested that some of the structural and behavioral anomalies, common in patients with ARX mutations, are specifically due to alterations in pallial progenitor function.
24528893 indings suggest that the ARX c.429_452dup24 mutation may be a developmental model for Limb Kinetic Apraxia
23657928 nonmalformation phenotype with intellectual disability and dystonia is caused by a ARX missense mutation located outside the regions coding polyA tracts
23583054 aberrations of CDKL5 and ARX combined are an important consideration in the genetic forms of early-onset epilepsy in boys
23072184 One patient in a Turkish family representing non-syndromic X-linked mental retardation shows an abnormal band pattern on agarose gel; sequence analysis of exon 2 of ARX reveals that the patient has the c.428_451 dup(24bp) mutation.
22922607 Novel ARX mutation in 3 brothers associates with mild developmental delay and early hand preference.
22642246 The authors suggest that molecular analysis of ARX mutations as a second cause of X-linked intellectual disability (XLID) should be considered as a routine diagnostic procedure in any male who presents with either nonsyndromic or syndromic XLID.
22628459 This study demonistrated that ARX polyalanine expansion modifies glutamatergic neurons excitability and morphology without affecting GABAergic neurons development.
22565167 A spectrum of mutations in the Aristaless-Related Homeobox gene (ARX) has been linked to -linked Infantile Spasms Syndrome.
22490986 We found a significant deviation from the expected Mendelian 1:1 ratio of transmission in favour of the c.429_452dup ARX mutation.
22387004 a novel and conserved role of Arx in mammalian endocrine cell development
22252899 These data indicate that mutations in the ARX homeodomain result in not only a loss of DNA binding activity but also loss of transcriptional repression activity.
22194193 The missense mutations in the ARX homeodomain represent loss-of-function mutations, which lead to a reduced or complete loss of DNA binding and as a consequence, a loss of transcriptional repression.
21496008 protein mislocalization of the homeodomain mutations correlated with clinical severity of non-syndromic intellectual disability
21482751 This study confirmed the pivotal role of the aristaless related homeobox in the pathogenesis of epileptic encephalopathies
21426321 study described a novel ARX mutation in a family, leading to Ohtahara syndrome with abnormal genital and psychomotor development (OAGPD) in a male infant, and neurocognitive/psychiatric phenomena in heterozygous, carrier females
21204226 Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms.
21204215 ARX polyA expansions are primarily associated with syndromic mental retardation.
21108397 2 male individuals, born from monozygotic twin sisters, with Ohtahara syndrome that evolved into West syndrome phenotype and epileptic encephalopathy; previously unreported missense mutation in exon 5 of ARX gene (c.1604T>A) was found in both children
20538404 ARX contributes not only to endocrine development, but also to exocrine development of the human pancreas, and its deficiency may lead to the severe phenotypes of X-linked lissencephaly with abnormal genitalia patients.
20506206 This review aims to provide a catalog of the currently known mutations in ARX and associated clinical phenotypes.
20384723 novel frameshift mutations in the terminal exon of the ARX gene (Ala524fsX534 and E536fsX672) were identified in 2 Ohtahara syndrome patients (2 and 13 years, each) from 2 families
19738637 Findings widen the spectrum of clinical phenotypes because of mutations in the ARX gene, but also emphasize the molecular pathogenetic effect of individual mutations.
19734009 ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy
19605412 Lissencephaly or mental retardation is caused by ARX mutations without the involvement of other genetic factors.
19587282 The first viable knock-in mouse model of infantile spasms syndrome spontaneously recapitulates salient phenotypic features of the human triplet repeat expansion mutation.
19085879 Results describe three cases of mental retardation in two different families where the mutation in aristaless-related homeobox (ARX) gene c.428_451 dup24 was found while X-fragile syndrome screening was made.
18975239 Disorders caused by mutations in the ARX gene include: hydrocephaly, lissencephaly and agenesis of corpus callosum with abnormal genitalia, Partington syndrome S), X-linked infantile spasms , myoclonic epilepsy, and nonspecific mental retardation.
18923043 Although Arx is necessary for the Dlx-dependent promotion of interneuron migration, it is not required for the GABAergic cell fate commitment mediated by Dlx factors.
18468866 This study report an case of ombination of infantile spasms, non-epileptic seizures and complex movement disorder on the electroclinical features of a 4-year-old boy with an expansion of the trinucleotide repeat in the ARX gene
17668384 We screened the ARX mutation and found a hemizygous, de novo, 33-bp duplication in exon 2, 298_330dupGCGGCA(GCG)9, in two of three unrelated male patients with EIEE.
17664401 The phenotype of infantile spasms with severe dyskinetic quadriparesis increases the number of human disorders that result from the pathologic expansion of single alanine repeats of ARX protein.
17641262 This study reports a novel 24-bp in-frame deletion within exon 2 of the ARX gene in a male child with X-linked mental retardation
17613295 Considering genotype-phenotype correlation, we suggest screening of the most common mutation, the c.428_451 dup mutation by PCR, in patients with infantile spasm syndrome, Partington syndrome and non-syndromic X-linked mental retardation.
17490853 study showed that the c.304ins(GCG)7 mutation causing an increase from 16 to 23 alanines increased the propensity of ARX protein aggregation and a shift from nuclear to cytoplasmic localization
17480217 study underlines the role of ARXdup24 as a critical mutational site causing mental retardation linked to Xp22
17082467 Features confirm the pleiotropic effect of ARX gene duplication in X-linked mental retardation.
17044103 Observational study of genotype prevalence. (HuGE Navigator)
17044103 These findings indicate that mutations in the ARX gene are very rare in autism.
16988001 Activin A has opposite effects on glucagon and arx gene expression in alpha-cells compared with beta-cells, a finding that may have relevance during pancreatic endocrine lineage specification and physiological function of the adult islets
16845484 These results 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.
16523516 Results confirm the significant contribution of ARX mutations in the etiology of X-linked mental retardation (XLMR), and imply that screening for c.428-451 dup (24 bp) mutation should be recommended in all patients with suspected XLMR.
15850492 Four nonsyndromic XLMR families were found to have a 24 base pair duplication mutation in exon 2 of ARX.
15726411 Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation (ARX)
15707237 Mutations in the ARX gene can result in many different phenotypes, including phenotypes associated with severe brain malformations and less severe phenotypes associated with syndromic or non-syndromic forms of x-linked mental retadation.
15533998 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
15199382 Observational study of gene-disease association. (HuGE Navigator)
14722918 Thirteen novel mutations found in ARX gene in 20 males with X-linked lissencephaly with abnormal genitalia.
12874418 A hemizygous 24-bp duplication in exon 2 (441_464dup)results in expansion from 12 to 20 alanine residues (A155_W156insAAAAAAAA) in the second of four polyalanine tracts in the ARX protein, causing West syndrome.
12874405 2 point mutations (790delC & R332C) in 2 X-linked lissencephaly with abnormal genitalia pedigrees affect the homeodomain of the protein & confirm that ARX is a causative gene for XLAG.
12736870 Disruption of the STK9 gene causes severe X-linked infantile spasms and mental retardation.
12379852 ARX plays a role in causing X-linked lissencephaly with abnormal genitalia
12359145 The expression pattern suggests that ARX is involved in the differentiation and maintenance of specific neuronal cell types in the central nervous system.
12177367 A new syndrome of X-linked myoclonic epilepsy with generalized spasticity and intellectual disability in boys (XMESID) has been described and a novel missense mutation (1058C>T) identified in the ARX open reading frame.
12142061 data suggest mutations in the ARX gene are important causes of mental retardation, often associated with diverse neurological manifestations
11971879 Expression is specific to the telencephalon and thalamus. Mutations cause mental retardation without brain malformations.

AA Sequence

VC                                                                        561 - 562

Text Mined References (73)

PMID Year Title
26633894 2015 The Role of ARX in Human Pancreatic Endocrine Specification.
26337422 2015 Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene.
25171319 2015 Dysgenesis of enteroendocrine cells in Aristaless-Related Homeobox polyalanine expansion mutations.
25044608 2014 Whole ARX gene duplication is compatible with normal intellectual development.
24794919 2015 Conditional Loss of Arx From the Developing Dorsal Telencephalon Results in Behavioral Phenotypes Resembling Mild Human ARX Mutations.
24727054 Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype.
24528893 2014 The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.
23657928 2013 Expanding the phenotype associated with missense mutations of the ARX gene.
23583054 2013 CDKL5 and ARX mutations in males with early-onset epilepsy.
23072184 2012 C.428_451 dup(24bp) mutation of the ARX gene detected in a Turkish family.
22922607 2012 Novel mutation in ARX associated with early hand preference and a mild phenotype.
22642246 2012 Mutational screening of ARX gene in Iranian families with X-linked intellectual disability.
22628459 2013 An epilepsy-related ARX polyalanine expansion modifies glutamatergic neurons excitability and morphology without affecting GABAergic neurons development.
22565167 2012 Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms.
22490986 2012 Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?
22387004 2012 Arx is required for normal enteroendocrine cell development in mice and humans.
22252899 2012 Distinct DNA binding and transcriptional repression characteristics related to different ARX mutations.
22194193 2012 ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression.
21496008 2011 Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene.
21482751 2011 Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life.
21426321 2011 A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females.
21204226 2011 Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms.
21204215 2011 ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia.
21108397 2010 Familial Ohtahara syndrome due to a novel ARX gene mutation.
20538404 Partial loss of pancreas endocrine and exocrine cells of human ARX-null mutation: consideration of pancreas differentiation.
20506206 2010 ARX spectrum disorders: making inroads into the molecular pathology.
20384723 2010 Frameshift mutations of the ARX gene in familial Ohtahara syndrome.
19738637 2010 Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X).
19734009 2009 CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy.
19605412 2009 Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice.
19587282 2009 A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx(GCG)10+7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairment.
19085879 2008 [ARX mutations and mental retardation of unknown etiology: three new cases in Spain].
18975239 [ARX--one gene--many phenotypes].
18923043 2008 Arx is a direct target of Dlx2 and thereby contributes to the tangential migration of GABAergic interneurons.
18468866 2008 Combination of infantile spasms, non-epileptic seizures and complex movement disorder: a new case of ARX-related epilepsy.
17668384 2007 A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome).
17664401 2007 Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.
17641262 2007 A novel mutation of the ARX gene in a male with nonsyndromic mental retardation.
17613295 Mutation screening of the Aristaless-related homeobox (ARX) gene in Thai pediatric patients with delayed development: first report from Thailand.
17490853 2007 Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene.
17480217 2007 MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.
17082467 2006 Genotype-phenotype associations for ARX gene duplication in X-linked mental retardation.
17044103 2007 Mutation screening of the ARX gene in patients with autism.
16988001 2007 Activin A decreases glucagon and arx gene expression in alpha-cell lines.
16845484 2006 Mutational screening of ARX gene in Brazilian males with mental retardation of unknown etiology.
16523516 2006 The ARX mutations: a frequent cause of X-linked mental retardation.
16301625 2005 Identification of the immunodominant HY H2-D(k) epitope and evaluation of the role of direct and indirect antigen presentation in HY responses.
15850492 2005 XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene.
15726411 2005 Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation.
15707237 2005 The phenotypic spectrum of ARX mutations.
15533998 2004 A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death.
15199382 2004 Screening of the ARX gene in 682 retarded males.
14722918 2004 Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
12874418 2003 Polyalanine expansion of ARX associated with cryptogenic West syndrome.
12874405 2003 ARX mutations in X-linked lissencephaly with abnormal genitalia.
12736870 2003 Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation.
12379852 2002 Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.
12376949 2002 Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome.
12376946 2002 Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation.
12359145 Human ARX gene: genomic characterization and expression.
12177367 2002 X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX.
12142061 2002 Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX.
11971879 2002 ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.
11889467 2002 Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.
10920247 2000 Positioning of five genes (CASK, ARX, SAT, IMAGE cDNAs 248928 and 253949) from the human X chromosome short arm with respect to evolutionary breakpoints on the mouse X chromosome.
10398246 1999 Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis.
10398243 1999 Refined 2.7 centimorgan locus in Xp21.3-22.1 for a nonspecific X-linked mental retardation gene (MRX54).
9001795 1996 Nonsyndromic X-linked mental retardation: review and mapping of MRX29 to Xp21.
8826464 1996 Linkage analysis in three families with nonspecific X-linked mental retardation.
8826462 1996 Regional localization of two MRX genes to Xq28 (MRX28) and to Xp11.4-Xp22.12 (MRX33).
8826457 1996 Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38).
3177452 X-linked mental retardation with dystonic movements of the hands.
1605216 1992 Nomenclature guidelines for X-linked mental retardation.