ARX Antibody

1. ARX gene mutation c.88G>T is associated with X-Linked intellectual disability. PMID: 29896742
2. ARX is not associated with endometriosis and cannot be used as a biomarker for ovarian endometriosis. ARX is present in ovarian stroma and cells derived from ovarian stroma as well as in all types of sex cord-stromal tumors of the ovary. PMID: 29275192
3. Arx and Dnmt1 that are sufficient for achieving targeted generation of beta cells from adult pancreatic alpha cells. PMID: 28215845
4. 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. PMID: 28150386
5. 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 PMID: 27798109
6. ARX inhibition in expanded alpha-cell-derived cells treated with RC did not cause their transdifferentiation into insulin-producing cells. PMID: 26856418
7. Novel c.34G>T (p.(E12*)) variant was identified in the ARX gene in two male patients with early-onset infantile spasms. This variant reinitiated mRNA translation at the next AUG codon. PMID: 26306640
8. ARX plays a key role in pancreatic endocrine fate specification of pancreatic polypeptide, somatostatin, glucagon and insulin positive cells from human embryonic stem cells. PMID: 26633894
9. 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. PMID: 24794919
10. Neurodevelopmental disturbances in the patients may not simply arise from increased dosage due to ARX duplication. PMID: 26337422
11. 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 PMID: 25171319
12. ARX duplication does not inevitably have detrimental effects on brain development, in contrast with the effects of ARX haploinsufficiency. PMID: 25044608
13. indings suggest that the ARX c.429_452dup24 mutation may be a developmental model for Limb Kinetic Apraxia PMID: 24528893
14. nonmalformation phenotype with intellectual disability and dystonia is caused by a ARX missense mutation located outside the regions coding polyA tracts PMID: 23657928
15. This study demonistrated that ARX polyalanine expansion modifies glutamatergic neurons excitability and morphology without affecting GABAergic neurons development. PMID: 22628459
16. aberrations of CDKL5 and ARX combined are an important consideration in the genetic forms of early-onset epilepsy in boys PMID: 23583054
17. a novel and conserved role of Arx in mammalian endocrine cell development PMID: 22387004
18. We found a significant deviation from the expected Mendelian 1:1 ratio of transmission in favour of the c.429_452dup ARX mutation. PMID: 22490986
19. A spectrum of mutations in the Aristaless-Related Homeobox gene (ARX) has been linked to -linked Infantile Spasms Syndrome. PMID: 22565167
20. Novel ARX mutation in 3 brothers associates with mild developmental delay and early hand preference. PMID: 22922607
21. 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. PMID: 23072184
22. 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. PMID: 22194193
23. 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. PMID: 22642246
24. 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. PMID: 22252899
25. protein mislocalization of the homeodomain mutations correlated with clinical severity of non-syndromic intellectual disability PMID: 21496008
26. This study confirmed the pivotal role of the aristaless related homeobox in the pathogenesis of epileptic encephalopathies PMID: 21482751
27. 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 PMID: 21426321
28. ARX polyA expansions are primarily associated with syndromic mental retardation. PMID: 21204215
29. Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms. PMID: 21204226
30. 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 PMID: 21108397
31. 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. PMID: 20538404
32. 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 PMID: 20384723
33. This review aims to provide a catalog of the currently known mutations in ARX and associated clinical phenotypes. PMID: 20506206
34. 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. PMID: 19085879
35. Findings widen the spectrum of clinical phenotypes because of mutations in the ARX gene, but also emphasize the molecular pathogenetic effect of individual mutations. PMID: 19738637
36. Expression is specific to the telencephalon and thalamus. Mutations cause mental retardation without brain malformations. PMID: 11971879
37. data suggest mutations in the ARX gene are important causes of mental retardation, often associated with diverse neurological manifestations PMID: 12142061
38. 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. PMID: 12177367
39. The expression pattern suggests that ARX is involved in the differentiation and maintenance of specific neuronal cell types in the central nervous system. PMID: 12359145
40. ARX plays a role in causing X-linked lissencephaly with abnormal genitalia PMID: 12379852
41. Disruption of the STK9 gene causes severe X-linked infantile spasms and mental retardation. PMID: 12736870
42. 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. PMID: 12874405
43. 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. PMID: 12874418
44. Thirteen novel mutations found in ARX gene in 20 males with X-linked lissencephaly with abnormal genitalia. PMID: 14722918
45. 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 PMID: 15533998
46. 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. PMID: 15707237
47. Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation (ARX) PMID: 15726411
48. Four nonsyndromic XLMR families were found to have a 24 base pair duplication mutation in exon 2 of ARX. PMID: 15850492
49. 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. PMID: 16523516
50. 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. PMID: 16845484

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HGNC: 18060

OMIM: 300004

KEGG: hsa:170302

STRING: 9606.ENSP00000368332

UniGene: Hs.300304