| 1 | ARX, EBF3, HADDS
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| A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
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| Chao HT, Davids M, Burke E, Pappas JG, Rosenfeld JA, McCarty AJ, Davis T, Wolfe L, Toro C, Tifft C, Xia F, Stong N, Johnson TK, Warr CG; Undiagnosed Diseases Network.
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| Am J Hum Genet 100(1):128-137. doi: 10.1016/j.ajhg.2016.11.018. 2017
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| 2 | ACKR3, ARX, LHX6
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| Lhx6 directly regulates Arx and CXCR7 to determine cortical interneuron fate and laminar position.
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| Vogt D, Hunt RF, Mandal S, Sandberg M, Silberberg SN, Nagasawa T, Yang Z, Baraban SC, Rubenstein JL.
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| Neuron 82(2):350-64. doi: 10.1016/j.neuron.2014.02.030. 2014
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| 3 | ARX, KDM5C, XLMR1
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| A Regulatory Path Associated with X-Linked Intellectual Disability and Epilepsy Links KDM5C to the Polyalanine Expansions in ARX.
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| Poeta L, Fusco F, Drongitis D, Shoubridge C, Manganelli G, Filosa S, Paciolla M, Courtney M, Collombat P, Lioi MB, Gecz J, Ursini MV, Miano MG.
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| Am J Hum Genet 92(1):114-25. doi: 10.1016/j.ajhg.2012.11.008. Epub 2012 Dec 13.
2013
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| 4 | ARX, CDKL5
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| CDKL5 and ARX mutations in males with early-onset epilepsy.
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| Mirzaa GM, Paciorkowski AR, Marsh ED, Berry-Kravis EM, Medne L, Alkhateeb A, Grix A, Wirrell EC, Powell BR, Nickels KC, Burton B, Paras A, Kim K, Chung W, Dobyns WB, Das S.
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| Pediatr Neurol 48(5):367-77. doi: 10.1016/j.pediatrneurol.2012.12.030. Erratum in: Pediatr Neurol. 2013 Jul;49(1):74. Alkhateeb, Asem [added].
2013
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| 5 | ARX, CDKL5, EIEE1, EIEE2, ISSX
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| CDKL5 and ARX mutations in males with early-onset epilepsy.
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| Mirzaa GM, Paciorkowski AR, Marsh ED, Berry-Kravis EM, Medne L, Alkhateeb A, Grix A, Wirrell EC, Powell BR, Nickels KC, Burton B, Paras A, Kim K, Chung W, Dobyns WB, Das S.
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| Pediatr Neurol 48(5):367-77. doi: 10.1016/j.pediatrneurol.2012.12.030. Erratum in: Pediatr Neurol. 2013 Jul;49(1):74. Alkhateeb, Asem [added].
2013
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| 6 | ARX
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| An epilepsy-related ARX polyalanine expansion modifies glutamatergic neurons excitability and morphology without affecting GABAergic neurons development.
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| Beguin S, Crépel V, Aniksztejn L, Becq H, Pelosi B, Pallesi-Pocachard E, Bouamrane L, Pasqualetti M, Kitamura K, Cardoso C, Represa A.
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| Cereb Cortex 23(6):1484-94. doi: 10.1093/cercor/bhs138. Epub 2012 May 24.
2013
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| 7 | ARX, NKX6-1
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| Nkx6.1 controls a gene regulatory network required for establishing and maintaining pancreatic Beta cell identity.
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| Schaffer AE, Taylor BL, Benthuysen JR, Liu J, Thorel F, Yuan W, Jiao Y, Kaestner KH, Herrera PL, Magnuson MA, May CL, Sander M.
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| PLoS Genet 9(1):e1003274. doi: 10.1371/journal.pgen.1003274. Epub 2013 Jan 31.
2013
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| 8 | ARX, LMO1, SHOX2
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| ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression.
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| Shoubridge C, Tan MH, Seiboth G, Gécz J.
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| Hum Mol Genet 21(7):1639-47. doi: 10.1093/hmg/ddr601. Epub 2011 Dec 21.
2012
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| 9 | ARX, ISSX
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| Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms.
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| Olivetti PR, Noebels JL.
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| Curr Opin Neurobiol 22(5):859-65. doi: 10.1016/j.conb.2012.04.006. Epub 2012 May 5. Review.
2012
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| 10 | ARX
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| Arx is required for normal enteroendocrine cell development in mice and humans.
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| Du A, McCracken KW, Walp ER, Terry NA, Klein TJ, Han A, Wells JM, May CL.
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| Dev Biol 365(1):175-88. doi: 10.1016/j.ydbio.2012.02.024. Epub 2012 Feb 24.
2012
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| 11 | ARX
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| Distinct DNA binding and transcriptional repression characteristics related to different ARX mutations.
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| Cho G, Nasrallah MP, Lim Y, Golden JA.
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| Neurogenetics 13(1):23-9. doi: 10.1007/s10048-011-0304-7. Epub 2012 Jan 18.
2012
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| 12 | ARX, EIEE1
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| 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.
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| Ekşioğlu YZ, Pong AW, Takeoka M.
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| Epilepsia 52(5):984-92. doi: 10.1111/j.1528-1167.2011.02980.x. Epub 2011 Mar 22.
2011
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| 13 | ARX
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| Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene.
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| Fullston T, Finnis M, Hackett A, Hodgson B, Brueton L, Baynam G, Norman A, Reish O, Shoubridge C, Gecz J.
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| Clin Genet 80(6):510-22. doi: 10.1111/j.1399-0004.2011.01685.x. Epub 2011 May 18.
2011
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| 14 | ARX, NKX2-2
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| Nkx2.2 and Arx genetically interact to regulate pancreatic endocrine cell development and endocrine hormone expression.
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| Mastracci TL, Wilcox CL, Arnes L, Panea C, Golden JA, May CL, Sussel L.
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| Dev Biol 359(1):1-11. doi: 10.1016/j.ydbio.2011.08.001. Epub 2011 Aug 11.
2011
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| 15 | ARX, EIEE1
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| Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X).
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| Fullston T, Brueton L, Willis T, Philip S, MacPherson L, Finnis M, Gecz J, Morton J.
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| Eur J Hum Genet 18(2):157-62. Epub 2009 Sep 9.PMID: 19738637 2010
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| 16 | ARX, IPO13
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| Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division.
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| Shoubridge C, Tan MH, Fullston T, Cloosterman D, Coman D, McGillivray G, Mancini GM, Kleefstra T, Gécz J.
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| Pathogenetics athogenetics. 2010 2010
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| 17 | ARX, ISSX
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| A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations.
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| Reish O, Fullston T, Regev M, Heyman E, Gecz J.
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| Am J Med Genet A 149A(8):1655-60.PMID: 19606478 2009
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| 18 | ARX, XLAG
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| Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice.
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| Kitamura K, Itou Y, Yanazawa M, Ohsawa M, Suzuki-Migishima R, Umeki Y, Hohjoh H, Yanagawa Y, Shinba T, Itoh M, Nakamura K, Goto Y.
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| Hum Mol Genet 18(19):3708-24. Epub 2009 Jul 15.PMID: 19605412 2009
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| 19 | ARX
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| The homeobox gene Arx is a novel positive regulator of embryonic myogenesis.
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| Biressi S, Messina G, Collombat P, Tagliafico E, Monteverde S, Benedetti L, Cusella De Angelis MG, Mansouri A, Ferrari S, Tajbakhsh S, Broccoli V, Cossu G.
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| Cell Death Differ 15(1):94-104. Epub 2007 Oct 12. 2008
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| 20 | ARX, DLX1, DLX2, EMX1, EMX2, GSX2, LHX1, LHX5, LHX2, LHX6, LHX8, NKX2-1, OTX1, OTX2, PAX6
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| Homeobox genes in vertebrate forebrain development and disease.
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| Wigle JT, Eisenstat DD.
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| Clin Genet 73(3):212-26. Epub 2008 Jan 31. Review. 2008
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| 21 | ARX
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| The function of the Aristaless-related homeobox (Arx) gene product as a transcriptional repressor is diminished by mutations associated with X-linked mental retardation (XLMR).
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| Fullenkamp AN, El-Hodiri HM.
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| Biochem Biophys Res Commun 377(1):73-8. Epub 2008 Oct 1.
2008
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| 22 | ARX, ISSX, MRX54, PRTS
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| Identification of Arx transcriptional targets in the developing basal forebrain.
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| Fulp CT, Cho G, Marsh ED, Nasrallah IM, Labosky PA, Golden JA.
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| Hum Mol Genet 17(23):3740-60. Epub 2008 Sep 16.
2008
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| 23 | ARX
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| Cell-autonomous roles of ARX in cell proliferation and neuronal migration during corticogenesis.
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| Friocourt G, Kanatani S, Tabata H, Yozu M, Takahashi T, Antypa M, Raguénès O, Chelly J, Férec C, Nakajima K, Parnavelas JG.
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| J Neurosci 28(22):5794-805.PMID: 18509041 2008
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| 24 | ARX
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| Mutation screening of the ARX gene in patients with autism.
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| Chaste P, Nygren G, Anckarsater H, Rastam M, Coleman M, Leboyer M, Gillberg C, Betancur C.
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| Am J Med Genet B Neuropsychiatr Genet 144(2):228-30. 2007
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| 25 | ARX, ISSX
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| A Longer Polyalanine Expansion Mutation in the ARX Gene Causes Early Infantile Epileptic Encephalopathy with Suppression-Burst Pattern (Ohtahara Syndrome).
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| Kato M, Saitoh S, Kamei A, Shiraishi H, Ueda Y, Akasaka M, Tohyama J, Akasaka N, Hayasaka K.
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| Am J Hum Genet 81(2):361-6. Epub 2007 Jun 11. 2007
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| 26 | ARX,IPO13,ISSX,MRX54,PRTS
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| Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene.
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| Shoubridge C, Cloosterman D, Parkinson-Lawerence E, Brooks D, Gecz J.
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| Genomics 90(1):59-71. Epub 2007 May 9. 2007
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| 27 | ACSL4, AFF2, AGTR2, ARHGEF6, ARX, ATRX, DLG3, ESMR, FTSJ1, GDI1, IL1RAPL1, KDM5C, MECP2, MRX68, MRX89, MRX90, MRXS31, NLGN3, NLGN4X, OPHN1, PQBP1, RPS6KA3, RTTM, SLC16A2, SLC6A8, SYN1, TSPAN7, ZNF41
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| X linked mental retardation: a clinical guide.
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| Raymond FL.
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| J Med Genet 43(3):193-200. Epub 2005 Aug 23. 2006
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| 28 | ARX
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| Mutational screening of ARX gene in Brazilian males with mental retardation of unknown etiology.
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| de Souza Gestinari-Duarte R, Santos-Reboucas CB, Pimentel MM.
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| J Hum Genet 51(8):737-40. Epub 2006 Jul 15. 2006
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| 29 | ARX
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| The ARX mutations: a frequent cause of X-linked mental retardation.
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| Nawara M, Szczaluba K, Poirier K, Chrzanowska K, Pilch J, Bal J, Chelly J, Mazurczak T.
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| Am J Med Genet A 140(7):727-32. 2006
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| 30 | ARX, PRTS
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| Genotype-phenotype associations for ARX gene duplication in X-linked mental retardation.
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| Szczaluba K, Nawara M, Poirier K, Pilch J, Gajdulewicz M, Spodar K, Chelly J, Bal J, Mazurczak T.
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| Neurology 67(11):2073-5. Epub 2006 Nov 2.
2006
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| 31 | ARX, XLAG
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| A novel in-frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitalia.
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| Bhat SS, Rogers RC, Holden KR, Srivastava AK.
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| Am J Med Genet A 138(1):70-2. No abstract available. 2005
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| 32 | ARX, XLAG
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| Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
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| Kato M, Das S, Petras K, Kitamura K, Morohashi K, Abuelo DN, Barr M, Bonneau D, Brady AF, Carpenter NJ, Cipero KL, Frisone F, Fukuda T, Guerrini R, Iida E, Itoh M, Lewanda AF, Nanba Y, Oka A, Proud VK, Saugier-Veber P, Schelley SL, Selicorni A, Shaner R, Silengo M, Stewart F, Sugiyama N, Toyama J, Toutain A, Vargas AL, Yanazawa M, Zackai EH, Dobyns WB.
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| Hum Mutat 23(2):147-59. 2004
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| 33 | PRTS, ARX, MRX54
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| ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism.
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| Devriendt K, Fryns JP.
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| Clin Genet 65(6):503-5. No abstract available. 2004
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| 34 | ARX
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| Screening of the ARX gene in 682 retarded males.
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| Gronskov K, Hjalgrim H, Nielsen IM, Brondum-Nielsen K.
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| Eur J Hum Genet 12(9):701-5. 2004
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| 35 | ARX
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| Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons.
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| Poirier K, Van Esch H, Friocourt G, Saillour Y, Bahi N, Backer S, Souil E, Castelnau-Ptakhine L, Beldjord C, Francis F, Bienvenu T, Chelly J.
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| Brain Res Mol Brain Res 122(1):35-46. 2004
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| 36 | MDS, ARX, DCX, PAFAH1B1, RELN, YWHAE
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| Lissencephaly and the molecular basis of neuronal migration.
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| Kato M, Dobyns WB.
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| Hum Mol Genet 12 Spec No 1:R89-96. Review. 2003
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| 37 | XLAG, ARX
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| ARX mutations in X-linked lissencephaly with abnormal genitalia.
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| Uyanik G, Aigner L, Martin P, Gross C, Neumann D, Marschner-Schafer H, Hehr U, Winkler J.
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| Neurology 61(2):232-5. 2003
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| 38 | ARX, ACOT9, PDK3, PRDX4
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| ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.
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| Bienvenu T, Poirier K, Friocourt G, Bahi N, Beaumont D, Fauchereau F, Ben Jeema L, Zemni R, Vinet MC, Francis F, Couvert P, Gomot M, Moraine C, van Bokhoven H, Kalscheuer V, Frints S, Gecz J, Ohzaki K, Chaabouni H, Fryns JP, Desportes V, Beldjord C, Chelly J.
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| Hum Mol Genet 11(8):981-91. 2002
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| 39 | ARX
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| Human ARX gene: genomic characterization and expression.
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| Ohira R, Zhang Y, Guo W, Dipple K, Shih S, Doerr J, Huang B, Fu L, Abu-Khalil A, Geschwind D, McCabe E.
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| Mol Genet Metab 77(1-2):179. 2002
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| 40 | ARX, XLAG
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| Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.
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| Kitamura K, Yanazawa M, Sugiyama N, Miura H, Iizuka-Kogo A, Kusaka M, Omichi K, Suzuki R, Kato-Fukui Y, Kamiirisa K, Matsuo M, Kamijo S, Kasahara M, Yoshioka H, Ogata T, Fukuda T, Kondo I, Kato M, Dobyns WB, Yokoyama M, Morohashi K.
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| Nat Genet 32(3):359-69. 2002
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| 41 | ARX, PRTS
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| Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation.
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| Turner G, Partington M, Kerr B, Mangelsdorf M, Gecz J.
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| Am J Med Genet 112(4):405-11. 2002
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| 42 | ISSX, ARX
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| X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX.
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| Scheffer IE, Wallace RH, Phillips FL, Hewson P, Reardon K, Parasivam G, Stromme P, Berkovic SF, Gecz J, Mulley JC.
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| Neurology 59(3):348-56. 2002
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| 43 | ARX, ISSX
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| Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX.
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| Stromme P, Mangelsdorf ME, Scheffer IE, Gecz J.
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| Brain Dev 24(5):266-8. 2002
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| 44 | ARX
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| Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38).
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| Schutz CK, Ives EJ, Chalifoux M, MacLaren L, Farrell S, Robinson PD, White BN, Holden JJ.
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| Am J Med Genet 64(1):89-96.
1996
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| 45 | XLAG, ARX
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| New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum.
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| Proud VK, Levine C, Carpenter NJ.
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| Am J Med Genet 43(1-2):458-66. 1992
|