ARX

Summary

Gene Symbol: ARX
Description: aristaless related homeobox
Alias: CT121, EIEE1, ISSX, MRX29, MRX32, MRX33, MRX36, MRX38, MRX43, MRX54, MRX76, MRX87, MRXS1, PRTS, homeobox protein ARX, aristaless-related homeobox, X-linked, cancer/testis antigen 121
Species: human
Products:     ARX

Top Publications

  1. Du A, McCracken K, Walp E, Terry N, Klein T, Han A, et al. Arx is required for normal enteroendocrine cell development in mice and humans. Dev Biol. 2012;365:175-88 pubmed publisher
    ..Here we show that Arx, a homeodomain-containing transcription factor, is required for the normal development of mouse and human ..
  2. Cossee M, Faivre L, Philippe C, Hichri H, de Saint Martin A, Laugel V, et al. ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia. Am J Med Genet A. 2011;155A:98-105 pubmed publisher
    Mutations in the ARX gene cause both nonsyndromic and several forms of syndromic mental retardation (MR). Two polyalanine (polyA) expansions of ARX are recurrent mutations. The most common one, the c...
  3. Bienvenu T, Poirier K, Friocourt G, Bahi N, Beaumont D, Fauchereau F, et al. ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet. 2002;11:981-91 pubmed
    ..region for an X-linked mental retardation (XLMR) locus led us to identify a novel Aristaless related homeobox gene (ARX )...
  4. Stepp M, Cason A, Finnis M, Mangelsdorf M, Holinski Feder E, Macgregor D, et al. XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene. BMC Med Genet. 2005;6:16 pubmed
    X-linked mental retardation (XLMR) is the leading cause of mental retardation in males. Mutations in the ARX gene in Xp22.1 have been found in numerous families with both nonsyndromic and syndromic XLMR...
  5. Holinski Feder E, Golla A, Rost I, Seidel H, Rittinger O, Meindl A. Regional localization of two MRX genes to Xq28 (MRX28) and to Xp11.4-Xp22.12 (MRX33). Am J Med Genet. 1996;64:125-30 pubmed
    Two genes responsible for a nonspecific form of X-linked mental retardation (MRX28 and MRX33) were localized by linkage analysis with 40 highly polymorphic DNA markers situated along the entire the X chromosome...
  6. Shoubridge C, Fullston T, Gecz J. ARX spectrum disorders: making inroads into the molecular pathology. Hum Mutat. 2010;31:889-900 pubmed publisher
    The Aristaless-related homeobox gene (ARX) is one of the most frequently mutated genes in a spectrum of X-chromosome phenotypes with intellectual disability (ID) as their cardinal feature...
  7. Turner G, Partington M, Kerr B, Mangelsdorf M, Gecz J. Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation. Am J Med Genet. 2002;112:405-11 pubmed
    ..retardation (NSXLMR), were reviewed when it was shown that they had a 24-bp duplication (428-45 1dup(24bp)) in the ARX gene [Stromme et al., 2002: Nat Genet 30:441-445]...
  8. Arikan Y, Bilgen T, Koken R, Turan S, Mihci E, Keser I. C.428_451 dup(24bp) mutation of the ARX gene detected in a Turkish family. Genet Couns. 2012;23:367-73 pubmed
    b>ARX mutations give rise to both syndromic and nonsyndromic forms of mental retardation (MR). We investigated the most common ARX mutations, c.428_451 dup(24bp) and c...
  9. Wohlrab G, Uyanik G, Gross C, Hehr U, Winkler J, Schmitt B, et al. Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation. Eur J Pediatr. 2005;164:326-8 pubmed

More Information

Publications92

  1. Strømme P, Mangelsdorf M, Shaw M, Lower K, Lewis S, Bruyere H, et al. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet. 2002;30:441-5 pubmed
    ..We have identified mutations in an X chromosome-linked, Aristaless-related, homeobox gene (ARX), in nine families with mental retardation (syndromic and nonspecific), various forms of epilepsy, including ..
  2. Hane B, Schroer R, Arena J, Lubs H, Schwartz C, Stevenson R. Nonsyndromic X-linked mental retardation: review and mapping of MRX29 to Xp21. Clin Genet. 1996;50:176-83 pubmed
    ..The XLMR gene in this family has been assigned the designation MRX29. The localization overlaps with at least six other MRX entities linked to the distal short arm of the X chromosome. ..
  3. Kato M, Saitoh S, Kamei A, Shiraishi H, Ueda Y, Akasaka M, et al. A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). Am J Hum Genet. 2007;81:361-6 pubmed
    ..b>ARX is a crucial gene for the development of interneurons in the fetal brain, and a polyalanine expansion mutation of ..
  4. Scheffer I, Wallace R, Phillips F, Hewson P, Reardon K, Parasivam G, et al. X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX. Neurology. 2002;59:348-56 pubmed
    ..XMESID is associated with a missense mutation in ARX. This disorder is allelic with X-linked infantile spasms (ISSX; MIM 308350) where polyalanine tract expansions are the commonly observed molecular defect...
  5. Fullston T, Finnis M, Hackett A, Hodgson B, Brueton L, Baynam G, et al. Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene. Clin Genet. 2011;80:510-22 pubmed publisher
    b>ARX mutations cause a diverse spectrum of human disorders, ranging from severe brain and genital malformations to non-syndromic intellectual disability (ID)...
  6. Kato M, Das S, Petras K, Sawaishi Y, Dobyns W. Polyalanine expansion of ARX associated with cryptogenic West syndrome. Neurology. 2003;61:267-76 pubmed
  7. Grønskov K, Hjalgrim H, Nielsen I, Brøndum Nielsen K. Screening of the ARX gene in 682 retarded males. Eur J Hum Genet. 2004;12:701-5 pubmed
    The newly identified gene, ARX, when mutated has been shown to cause both syndromic and nonsyndromic forms of mental retardation. It seems that the less severe forms are due to polyalanine expansions and missense mutations in the gene...
  8. Abedini S, Kahrizi K, Behjati F, Banihashemi S, Ghasemi Firoozabadi S, Najmabadi H. Mutational screening of ARX gene in Iranian families with X-linked intellectual disability. Arch Iran Med. 2012;15:361-5 pubmed publisher
    ..lissencephaly with abnormal genitalia (XLAG), Partington syndrome (PRTS), and X-linked infantile spasm syndrome (ISSX). The recurrent 24 bp duplication mutation, c...
  9. Poirier K, Eisermann M, Caubel I, Kaminska A, Peudonnier S, Boddaert N, et al. Combination of infantile spasms, non-epileptic seizures and complex movement disorder: a new case of ARX-related epilepsy. Epilepsy Res. 2008;80:224-8 pubmed publisher
    ..ARX gene are responsible for a wide variety of mental retardation conditions including X-linked infantile spasms (ISSX) and generalized dystonia...
  10. Guerrini R, Moro F, Kato M, Barkovich A, Shiihara T, McShane M, et al. Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. Neurology. 2007;69:427-33 pubmed
    b>ARX is a paired-type homeobox gene located on the X chromosome that contains five exons with four polyalanine (PolyA) tracts, a homeodomain, and a conserved C-terminal aristaless domain...
  11. Nasrallah I, Minarcik J, Golden J. A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death. J Cell Biol. 2004;167:411-6 pubmed
    ..Recently, polyalanine (polyA) tract expansions in the Aristaless-related homeobox (ARX) protein have been identified in a subset of patients with infantile spasms and mental retardation...
  12. Kato M, Das S, Petras K, Kitamura K, Morohashi K, Abuelo D, et al. Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat. 2004;23:147-59 pubmed
    We recently identified mutations of ARX in nine genotypic males with X-linked lissencephaly with abnormal genitalia (XLAG), and in several female relatives with isolated agenesis of the corpus callosum (ACC)...
  13. Strømme P, Mangelsdorf M, Scheffer I, Gecz J. Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX. Brain Dev. 2002;24:266-8 pubmed
    ..with mutations (duplication, expansion, missense, and deletion mutations) in the Aristaless related homeobox gene, ARX, were analysed...
  14. Frints S, Froyen G, Marynen P, Willekens D, Legius E, Fryns J. Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome. Am J Med Genet. 2002;112:427-8 pubmed
  15. Ohira R, Zhang Y, Guo W, Dipple K, Shih S, Doerr J, et al. Human ARX gene: genomic characterization and expression. Mol Genet Metab. 2002;77:179-88 pubmed
    b>Arx is a homeobox-containing gene with a high degree of sequence similarity between mouse and zebrafish...
  16. Kitamura K, Yanazawa M, Sugiyama N, Miura H, Iizuka Kogo A, Kusaka M, et al. Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet. 2002;32:359-69 pubmed
    Male embryonic mice with mutations in the X-linked aristaless-related homeobox gene (Arx) developed with small brains due to suppressed proliferation and regional deficiencies in the forebrain...
  17. Kitamura K, Itou Y, Yanazawa M, Ohsawa M, Suzuki Migishima R, Umeki Y, et al. Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice. Hum Mol Genet. 2009;18:3708-24 pubmed publisher
    b>ARX (the aristaless-related homeobox gene) is a transcription factor that participates in the development of GABAergic and cholinergic neurons in the forebrain...
  18. Partington M, Mulley J, Sutherland G, Hockey A, Thode A, Turner G. X-linked mental retardation with dystonic movements of the hands. Am J Med Genet. 1988;30:251-62 pubmed
    ..DNA marker studies gave a maximum lod score of 2.11 at theta of 0.00 for DXS41 with a likely localization of the gene to Xpter----Xp21. ..
  19. Schutz C, Ives E, Chalifoux M, MacLaren L, Farrell S, Robinson P, et al. Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38). Am J Med Genet. 1996;64:89-96 pubmed
    ..The map intervals of 5 X-linked mental retardation loci, MRX2 (Xp22.1-p22.2), MRX19 (Xp22), MRX21 (Xp21.1-p22.3), MRX29 (Xp21.2-p22.1), and MRX32 (Xp21.2-p22...
  20. Nawara M, Szczaluba K, Poirier K, Chrzanowska K, Pilch J, Bal J, et al. The ARX mutations: a frequent cause of X-linked mental retardation. Am J Med Genet A. 2006;140:727-32 pubmed
    The ARX gene mutations have been demonstrated to cause different forms of mental retardation (MR)...
  21. Uyanik G, Aigner L, Martin P, Gross C, Neumann D, Marschner Schäfer H, et al. ARX mutations in X-linked lissencephaly with abnormal genitalia. Neurology. 2003;61:232-5 pubmed
    ..X-linked mental retardation have been found to be associated with mutations in the Aristaless-related homeobox gene ARX. The authors assessed ARX as a candidate gene for XLAG in a genetic analysis of neuronal migration disorders and ..
  22. Galanopoulou A. Basic mechanisms of catastrophic epilepsy -- overview from animal models. Brain Dev. 2013;35:748-56 pubmed publisher
    ..interneuronopathies with infantile spasms due to loss of function of the aristaless X-linked homeobox-related gene (ARX)...
  23. Amiri Yekta A, Coutton C, Kherraf Z, Karaouzène T, Le Tanno P, Sanati M, et al. Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations. Hum Reprod. 2016;31:2872-2880 pubmed
    ..supported by following grants: the 'MAS-Flagella' project financed by the French ANR and the DGOS for the program PRTS 2014 and the 'Whole genome sequencing of patients with Flagellar Growth Defects (FGD)' project financed by the ..
  24. Schiemann S, Martín Durán J, Børve A, Vellutini B, Passamaneck Y, Hejnol A. Clustered brachiopod Hox genes are not expressed collinearly and are associated with lophotrochozoan novelties. Proc Natl Acad Sci U S A. 2017;114:E1913-E1922 pubmed publisher
    ..The shared and specific expression of Hox genes, together with Arx, Zic, and Notch pathway components in chaetae and shell fields in brachiopods, mollusks, and annelids ..
  25. Mulley J, Kerr B, Stevenson R, Lubs H. Nomenclature guidelines for X-linked mental retardation. Am J Med Genet. 1992;43:383-91 pubmed
    ..retardations (MRXS) which do not as yet have specific symbols are given unique interim symbols for each syndrome (MRXS1, MRXS2, MRXS3 ...)...
  26. Volk D, Edelson J, Lewis D. Altered expression of developmental regulators of parvalbumin and somatostatin neurons in the prefrontal cortex in schizophrenia. Schizophr Res. 2016;177:3-9 pubmed publisher
    ..e. Dlx1, Dlx5, Dlx6, SATB1, Sip1/Zeb2, ST8SIA4, cMaf, Nkx6.2, and Arx) were not altered in schizophrenia...
  27. Pölzer S, Miesenberger K. Assisting people with Nystagmus through image stabilization: Using an ARX model to overcome processing delays. Conf Proc IEEE Eng Med Biol Soc. 2017;2017:1222-1225 pubmed publisher
    ..Further an identification and validation process using recorded eye-movements is presented since the synchronization approach relies on predicting eye-movements to reduce the impact of delays due to processing time...
  28. Minami T, Muneta T, Sekiya I, Watanabe T, Mochizuki T, Horie M, et al. Lateral meniscus posterior root tear contributes to anterolateral rotational instability and meniscus extrusion in anterior cruciate ligament-injured patients. Knee Surg Sports Traumatol Arthrosc. 2018;26:1174-1181 pubmed publisher
    ..Three hundred and seventeen patients with primary ACL reconstruction were included. PRTs for both medial and lateral sides were confirmed by reviewing surgical records...
  29. Dickel D, Ypsilanti A, Pla R, Zhu Y, Barozzi I, Mannion B, et al. Ultraconserved Enhancers Are Required for Normal Development. Cell. 2018;172:491-499.e15 pubmed publisher
    ..on some of the longest ultraconserved sites genome wide, located near the essential neuronal transcription factor Arx, we used genome editing to create an expanded series of knockout mice lacking individual or combinations of ..
  30. Hanif M, Zaman M. Thiolation of arabinoxylan and its application in the fabrication of controlled release mucoadhesive oral films. Daru. 2017;25:6 pubmed publisher
    ..The current study was designed to achieve the thiol modification of Arabinoxylan (ARX) and to develop a mucoadhesive oral film for the improved delivery of tizanidine hydrochloride (TZN HCl)...
  31. Shoubridge C, Tan M, Seiboth G, Gecz J. ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression. Hum Mol Genet. 2012;21:1639-47 pubmed publisher
    ..abnormal genitalia to seizure disorders without brain malformations including X-linked infantile spasms with ID (ISSX-ID) and X-linked myoclonic epilepsy with spasticity and ID (XMESID)...
  32. Conti V, Marini C, Mei D, Falchi M, Ferrari A, Guerrini R. Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms. Am J Med Genet A. 2011;155A:164-7 pubmed publisher
    Aristaless related homeobox (ARX) is a transcription factor containing highly conserved octapeptide, homeobox, acidic, and aristaless domains, as well as four polyA tracts...
  33. Napolitano T, Avolio F, Courtney M, Vieira A, Druelle N, Ben Othman N, et al. Pax4 acts as a key player in pancreas development and plasticity. Semin Cell Dev Biol. 2015;44:107-14 pubmed publisher
    ..Pax4 also directly regulates the expression of Arx, a gene that plays a crucial role in α-cell specification...
  34. Shoubridge C, Cloosterman D, Parkinson Lawerence E, Brooks D, Gecz J. Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene. Genomics. 2007;90:59-71 pubmed
    The Aristaless-related homeobox gene (ARX) is one of the major genes causing X-linked mental retardation. We have been interested in the pathogenic mechanism of expanded polyalanine tract mutations in ARX. We showed that the c...
  35. Lawlor N, Youn A, Kursawe R, Ucar D, Stitzel M. Alpha TC1 and Beta-TC-6 genomic profiling uncovers both shared and distinct transcriptional regulatory features with their primary islet counterparts. Sci Rep. 2017;7:11959 pubmed publisher
    ..g., Pdx1) and alpha (e.g., Arx) cell transcription factors (TFs), and enrichment of binding motifs for these TFs in αTC1/βTC6 cis-regulatory ..
  36. Yatsu R, Miyagawa S, Kohno S, Parrott B, Yamaguchi K, Ogino Y, et al. RNA-seq analysis of the gonadal transcriptome during Alligator mississippiensis temperature-dependent sex determination and differentiation. BMC Genomics. 2016;17:77 pubmed publisher
    ..expression of uncharacterized ncRNAs and other novel elements, such as unique expression patterns of HEMGN and ARX. Twenty-five of the differentially expressed genes identified in our analysis were putative transcriptional ..
  37. Grønskov K, Diness B, Stahlhut M, Zilmer M, Tumer Z, Bisgaard A, et al. Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype. Eur J Med Genet. 2014;57:284-7 pubmed publisher
    A common in frame duplication in ARX (c.431_454dup24) was found in a five year-old boy who presented with mild Partington syndrome...
  38. Charzewska A, Nawara M, Jakubiuk Tomaszuk A, Obersztyn E, Hoffman Zacharska D, Elert E, et al. Expanding the phenotype associated with missense mutations of the ARX gene. Am J Med Genet A. 2013;161A:1813-6 pubmed publisher
  39. Zhu Z, Li Q, Lee K, Rosen B, González F, Soh C, et al. Genome Editing of Lineage Determinants in Human Pluripotent Stem Cells Reveals Mechanisms of Pancreatic Development and Diabetes. Cell Stem Cell. 2016;18:755-68 pubmed publisher
    ..analysis of the roles of eight pancreatic transcription factors (PDX1, RFX6, PTF1A, GLIS3, MNX1, NGN3, HES1, and ARX)...
  40. Glinton K, Beck J, Liang Z, Qiu C, Lee S, Ploplis V, et al. Variable region in streptococcal M-proteins provides stable binding with host fibrinogen for plasminogen-mediated bacterial invasion. J Biol Chem. 2017;292:6775-6785 pubmed publisher
    ..Sequence analyses of various GAS M-Prts have shown that they contain a highly conserved sortase A-dependent cell wall-anchored C terminus, whereas the ..
  41. Jackson M, Lee K, Mattiske T, Jaehne E, Ozturk E, Baune B, et al. Extensive phenotyping of two ARX polyalanine expansion mutation mouse models that span clinical spectrum of intellectual disability and epilepsy. Neurobiol Dis. 2017;105:245-256 pubmed publisher
    The Aristaless-related homeobox gene (ARX) is a known intellectual disability (ID) gene that frequently presents with X-linked infantile spasm syndrome as a comorbidity...
  42. Fang H, Gong X, Hong X, Hua M, Huang J. [Effect of Paridis Rhizoma total saponins on apoptosis of human gastric cancer cell MKN-45 and Fas/FasL signaling pathway]. Zhongguo Zhong Yao Za Zhi. 2015;40:1388-91 pubmed
    The study aimed to test if Paridis Rhizoma total saponins (PRTS) could induce apoptosis of human gastric cancer cell MKN-45...
  43. Sartori S, Polli R, Bettella E, Rossato S, Andreoli W, Vecchi M, et al. 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. J Child Neurol. 2011;26:683-91 pubmed publisher
    ..This work provides a better phenotypic characterization and more stringent clinical indications for the molecular test. ..
  44. Najeh T, Mbarek A, Bouzrara K, Nabli L, Messaoud H. New methods of Laguerre pole optimization for the ARX model expansion on Laguerre bases. ISA Trans. 2017;70:93-103 pubmed publisher
    The ARX-Laguerre model is a very important reduced complexity representation of linear system. However a significant reduction of this model is subject to an optimal choice of both Laguerre poles...
  45. Ouyang H. Nonlinear autoregressive neural networks with external inputs for forecasting of typhoon inundation level. Environ Monit Assess. 2017;189:376 pubmed publisher
    ..with the highest overall performance were identified and their predictions were compared with those of traditional ARX-based models...
  46. Prasser F, Kohlmayer F, Kuhn K. Efficient and effective pruning strategies for health data de-identification. BMC Med Inform Decis Mak. 2016;16:49 pubmed publisher
    ..The method described in this article has been implemented into ARX, an open source de-identification software for biomedical data.
  47. Ishibashi M, Manning E, Shoubridge C, Krecsmarik M, Hawkins T, Giacomotto J, et al. Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene. Hum Genet. 2015;134:1163-82 pubmed publisher
    Protein-coding mutations in the transcription factor-encoding gene ARX cause various forms of intellectual disability (ID) and epilepsy...
  48. Stella N, Callaghan J, Zhang L, Brothers K, Kowalski R, Huang J, et al. SlpE is a calcium-dependent cytotoxic metalloprotease associated with clinical isolates of Serratia marcescens. Res Microbiol. 2017;168:567-574 pubmed publisher
    ..the genome of a clinical isolate of Serratia marcescens that is highly similar to the canonical serralysin protein, PrtS. This gene was named serralysin-like protease E, SlpE, and was found in the majority (67%) of tested clinical ..
  49. Dimassi S, Labalme A, Ville D, Calender A, Mignot C, Boutry Kryza N, et al. Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. Clin Genet. 2016;89:198-204 pubmed publisher
    ..screening, array-comparative genomic hybridization (CGH) and testing for mutations in CDKL5, STXBP1, and for ARX duplications. We found a probably pathogenic mutation in four patients. Missense mutations in SCN2A (p...
  50. Price M, Yoo J, Burgess D, Deng F, Hrachovy R, Frost J, et al. 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. J Neurosci. 2009;29:8752-63 pubmed publisher
    ..expanding the first polyalanine tract of the interneuron-specific transcription factor Aristaless-related homeobox (ARX) from 16 to 23 alanine codons...
  51. Lam C, Cox A, Jacobson D, Rankin M, Kushner J. Highly Proliferative α-Cell-Related Islet Endocrine Cells in Human Pancreata. Diabetes. 2018;67:674-686 pubmed publisher
    ..The proliferative hormone-negative cells uniformly contained immunoreactivity for ARX (indicating α-cell fate) and cytoplasmic Sox9 (Sox9Cyt)...
  52. Chakravarthy H, Gu X, Enge M, Dai X, Wang Y, Damond N, et al. Converting Adult Pancreatic Islet α Cells into β Cells by Targeting Both Dnmt1 and Arx. Cell Metab. 2017;25:622-634 pubmed publisher
    ..We show that the α cell regulators Aristaless-related homeobox (Arx) and DNA methyltransferase 1 (Dnmt1) maintain α cell identity in mice...
  53. Jeffery N, Richardson S, Beall C, Harries L. The species origin of the cellular microenvironment influences markers of beta cell fate and function in EndoC-βH1 cells. Exp Cell Res. 2017;361:284-291 pubmed publisher
    ..23 and - 0.51; p = 0.009 and 0.002 for the Aristaless-related homeobox (ARX) and Glucagon (GCG) genes respectively...
  54. de Souza Gestinari Duarte R, Santos Rebouças C, Pimentel M. Mutational screening of ARX gene in Brazilian males with mental retardation of unknown etiology. J Hum Genet. 2006;51:737-40 pubmed
    b>ARX gene mutations have been known as important causes of developmental and neurological disorders and are responsible for a large spectrum of abnormal phenotypes, includeing syndromic as well as nonsyndromic forms of mental retardation...
  55. Yang X, Pan G, Li W, Zhang L, Wu B, Wang H, et al. [Analysis of gene mutation of early onset epileptic spasm with unknown reason]. Zhonghua Er Ke Za Zhi. 2017;55:813-817 pubmed publisher
    ..In 17 cases, 10 of them had detected pathogenic genes. Nine cases had point mutations, involving SCN2A, ARX, UNC80, KCNQ2, and GABRB3...
  56. Mattiske T, Moey C, Vissers L, Thorne N, Georgeson P, Bakshi M, et al. An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX. Hum Mutat. 2017;38:548-555 pubmed publisher
    ..abnormal genitalia (XLAG) is invariably caused by loss-of-function mutations in the Aristaless-related homeobox (ARX) gene...
  57. Popovici C, Busa T, Boute O, Thuresson A, Perret O, Sigaudy S, et al. Whole ARX gene duplication is compatible with normal intellectual development. Am J Med Genet A. 2014;164A:2324-7 pubmed publisher
    ..13 duplications including the ARX gene detected by chromosomal microarray analysis (CMA). Two of these males had normal intelligence...
  58. Curie A, Nazir T, Brun A, Paulignan Y, Reboul A, Delange K, et al. The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia. Orphanet J Rare Dis. 2014;9:25 pubmed publisher
    The c.429_452dup24 of the ARX gene is a rare genetic anomaly, leading to X-Linked Intellectual Disability without brain malformation. While in certain cases c...
  59. Tucker M, Sieber M, Morphew M, Han M. The Caenorhabditis elegans aristaless orthologue, alr-1, is required for maintaining the functional and structural integrity of the amphid sensory organs. Mol Biol Cell. 2005;16:4695-704 pubmed
    The homeobox-containing aristaless-related protein ARX has been directly linked to the development of a number of human disorders involving mental retardation and epilepsy and clearly plays a critical role in development of the ..
  60. Laperuta C, Spizzichino L, d Adamo P, Monfregola J, Maiorino A, D Eustacchio A, et al. MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions. BMC Med Genet. 2007;8:25 pubmed
    ..We carried out on linkage-candidate gene studies in a new MRX family (MRX87). All coding regions and exon-intron boundaries of ARX gene were analysed by direct sequencing...
  61. Coman D, Fullston T, Shoubridge C, Leventer R, Wong F, Nazaretian S, et al. X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease. Child Neurol Open. 2017;4:2329048X17738625 pubmed publisher
    ..R379L, was identified. This case contributes to the clinical, histological, and molecular understanding of the multisystem nature of this disorder, especially the role of ARX in the development of the enteroendocrine system.
  62. Nabbout R, Depienne C, Chipaux M, Girard B, Souville I, Trouillard O, et al. CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy. Epilepsy Res. 2009;87:25-30 pubmed publisher
    ..Given the overlapping and heterogeneous clinical features of CDKL5- and ARX-related epilepsies and SMEI/DS, we postulated that CDKL5 mutations in females and ARX mutations gene in males may ..
  63. Kato M, Koyama N, Ohta M, Miura K, Hayasaka K. Frameshift mutations of the ARX gene in familial Ohtahara syndrome. Epilepsia. 2010;51:1679-84 pubmed publisher
    ..Recently, longer expansion of the first polyalanine tract of ARX was found to be causative for Ohtahara syndrome without brain malformation, whereas premature termination mutations ..
  64. Schultz J, Lee S, Cole T, Hoang H, Vibbert J, Cottee P, et al. The secreted MSP domain of C. elegans VAPB homolog VPR-1 patterns the adult striated muscle mitochondrial reticulum via SMN-1. Development. 2017;144:2175-2186 pubmed publisher
    ..SMN-1 acts in muscle, where it colocalizes at myofilaments with ARX-2, a component of the Arp2/3 actin-nucleation complex...
  65. Bassi D, Cappa F, Gazzola S, Orrù L, Cocconcelli P. Biofilm Formation on Stainless Steel by Streptococcus thermophilus UC8547 in Milk Environments Is Mediated by the Proteinase PrtS. Appl Environ Microbiol. 2017;83: pubmed publisher
    ..From this strain, which harbors the prtS gene for the cell wall protease and shows an aggregative phenotype, spontaneous mutants with impaired biofilm ..
  66. Mamin A, Philippe J. Activin A decreases glucagon and arx gene expression in alpha-cell lines. Mol Endocrinol. 2007;21:259-73 pubmed
    ..Furthermore, Activin A decreases cell proliferation of InR1G9 and alphaTC1 cells as well as cyclin D2 and arx gene expression, whose protein product Arx has been shown to be critical for alpha-cell differentiation...
  67. Jemaa L, Des Portes V, Zemni R, Mrad R, Maazoul F, Beldjord C, et al. Refined 2.7 centimorgan locus in Xp21.3-22.1 for a nonspecific X-linked mental retardation gene (MRX54). Am J Med Genet. 1999;85:276-82 pubmed
    ..Here we report on a large Tunisian family (MRX54) with an MRX condition...
  68. Eksioglu Y, Pong A, Takeoka M. 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. Epilepsia. 2011;52:984-92 pubmed publisher
    b>ARX, the aristaless-related homeobox gene, is implicated in cerebral, testicular, and pancreatic development. ARX mutations are associated with various forms of epilepsy, developmental delay, and ambiguous genitalia in humans...
  69. Itoh M, Takizawa Y, Hanai S, Okazaki S, Miyata R, Inoue T, et al. Partial loss of pancreas endocrine and exocrine cells of human ARX-null mutation: consideration of pancreas differentiation. Differentiation. 2010;80:118-22 pubmed publisher
    Aristaless-related homeobox gene (ARX) mutation leads to several neurological disorders including X-linked lissencephaly with abnormal genitalia (XLAG), West syndrome and Partington syndrome, with XLAG being the most severe form...
  70. Taroc E, Prasad A, Lin J, Forni P. The terminal nerve plays a prominent role in GnRH-1 neuronal migration independent from proper olfactory and vomeronasal connections to the olfactory bulbs. Biol Open. 2017;6:1552-1568 pubmed publisher
    ..Loss-of-function of the Arx-1 homeobox gene leads to the lack of proper formation of the OBs with abnormal axonal termination of olfactory ..
  71. Shoubridge C, Gardner A, Schwartz C, Hackett A, Field M, Gecz J. Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?. Eur J Hum Genet. 2012;20:1311-4 pubmed publisher
    Intellectual disability is common. Aristaless-related homeobox (ARX) gene is one of the most frequently mutated and pleiotropic genes, implicated in 10 different phenotypes...
  72. Rujirabanjerd S, Tongsippunyoo K, Sripo T, Limprasert P. Mutation screening of the Aristaless-related homeobox (ARX) gene in Thai pediatric patients with delayed development: first report from Thailand. Eur J Med Genet. 2007;50:346-54 pubmed
    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...
  73. Terry N, Lee R, Walp E, Kaestner K, Lee May C. Dysgenesis of enteroendocrine cells in Aristaless-Related Homeobox polyalanine expansion mutations. J Pediatr Gastroenterol Nutr. 2015;60:192-9 pubmed publisher
    Severe congenital diarrhea occurs in approximately half of patients with Aristaless-Related Homeobox (ARX) null mutations. The cause of this diarrhea is unknown...
  74. Chaste P, Nygren G, Anckarsater H, Rastam M, Coleman M, Leboyer M, et al. Mutation screening of the ARX gene in patients with autism. Am J Med Genet B Neuropsychiatr Genet. 2007;144B:228-30 pubmed
    Mutations in the Aristaless related homeobox (ARX) gene are associated with a broad spectrum of disorders, including nonsyndromic X-linked mental retardation, sometimes associated with epilepsy, as well as syndromic forms with brain ..
  75. Mirzaa G, Paciorkowski A, Marsh E, Berry Kravis E, Medne L, Alkhateeb A, et al. CDKL5 and ARX mutations in males with early-onset epilepsy. Pediatr Neurol. 2013;48:367-77 pubmed publisher
    Mutations in CDKL5 and ARX are known causes of early-onset epilepsy and severe developmental delay in males and females...
  76. Proschel C, Hansen J, Ali A, Tuttle E, Lacagnina M, Buscaglia G, et al. Epilepsy-causing sequence variations in SIK1 disrupt synaptic activity response gene expression and affect neuronal morphology. Eur J Hum Genet. 2017;25:216-221 pubmed publisher
    ..This work provides the first insights into the mechanisms of pathogenesis in SIK1 syndrome, and extends the ARX-MEF2C pathway in the pathogenesis of developmental epilepsy.
  77. Beguin S, Crepel V, Aniksztejn L, Becq H, Pelosi B, Pallesi Pocachard E, et al. An epilepsy-related ARX polyalanine expansion modifies glutamatergic neurons excitability and morphology without affecting GABAergic neurons development. Cereb Cortex. 2013;23:1484-94 pubmed publisher
    ..Here, we studied the impact of a polyalanine expansion of aristaless-related homeobox (ARX) gene, a mutation notably found in West and Ohtahara syndromes...
  78. Claes S, Gu X, Legius E, Lorenzetti E, Marynen P, Fryns J, et al. Linkage analysis in three families with nonspecific X-linked mental retardation. Am J Med Genet. 1996;64:137-46 pubmed
    ..9 in region Xp22.13-11.3. However, even in this small pedigree, exclusion mapping was able to exclude very large parts of the X chromosome and in this way identify a likely candidate region. ..
  79. Troester M, Trachtenberg T, Narayanan V. A novel mutation of the ARX gene in a male with nonsyndromic mental retardation. J Child Neurol. 2007;22:744-8 pubmed
    b>ARX (Aristaless-related homeobox gene) is located at Xp22. It contains 5 exons and encodes a 562-amino acid protein. The protein contains 4 polyalanine tracts, 3 of which are encoded in exon 2 and 1 in exon 4...
  80. Koda S, Onda Y, Matsui H, Takahagi K, Yamaguchi Uehara Y, Shimizu M, et al. Diurnal Transcriptome and Gene Network Represented through Sparse Modeling in Brachypodium distachyon. Front Plant Sci. 2017;8:2055 pubmed publisher
    ..genes and their network inference, based on a gene co-expression analysis and an Auto-Regressive eXogenous (ARX) model with a group smoothly clipped absolute deviation (SCAD) method using a time-series transcriptome dataset in ..
  81. Giordano L, Sartori S, Russo S, Accorsi P, Galli J, Tiberti A, et al. Familial Ohtahara syndrome due to a novel ARX gene mutation. Am J Med Genet A. 2010;152A:3133-7 pubmed publisher
    Recently, it has been reported that longer expansions of the polyalanine tract of the ARX gene could cause an early infantile encephalopathy with suppression burst pattern and that the length of this repeat region could be related to the ..
  82. Millrain M, Scott D, Addey C, Dewchand H, Ellis P, Ehrmann I, et al. Identification of the immunodominant HY H2-D(k) epitope and evaluation of the role of direct and indirect antigen presentation in HY responses. J Immunol. 2005;175:7209-17 pubmed
  83. Harris L, Harijan R, Ducati R, Evans G, Hirsch B, Schramm V. Synthesis of bis-Phosphate Iminoaltritol Enantiomers and Structural Characterization with Adenine Phosphoribosyltransferase. ACS Chem Biol. 2017;: pubmed publisher
    Phosphoribosyl transferases (PRTs) are essential in nucleotide synthesis and salvage, amino acid and vitamin synthesis...