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Zhou, V. ARX Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4763 (accessed on 28 September 2026).
Zhou V. ARX Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4763. Accessed September 28, 2026.
Zhou, Vicky. "ARX Gene" Encyclopedia, https://encyclopedia.pub/entry/4763 (accessed September 28, 2026).
Zhou, V. (2020, December 24). ARX Gene. In Encyclopedia. https://encyclopedia.pub/entry/4763
Zhou, Vicky. "ARX Gene." Encyclopedia. Web. 24 December, 2020.
ARX Gene
Edit

aristaless related homeobox

genes

References

  1. Abedini SS, Kahrizi K, Behjati F, Banihashemi S, Ghasemi Firoozabadi S,Najmabadi H. Mutational screening of ARX gene in Iranian families with X-linkedintellectual disability. Arch Iran Med. 2012 Jun;15(6):361-5. doi:012156/AIM.009.
  2. Bonneau D, Toutain A, Laquerrière A, Marret S, Saugier-Veber P, Barthez MA,Radi S, Biran-Mucignat V, Rodriguez D, Gélot A. X-linked lissencephaly withabsent corpus callosum and ambiguous genitalia (XLAG): clinical, magneticresonance imaging, and neuropathological findings. Ann Neurol. 2002Mar;51(3):340-9.
  3. Cho IT, Lim Y, Golden JA, Cho G. Aristaless Related Homeobox (ARX) Interactswith β-Catenin, BCL9, and P300 to Regulate Canonical Wnt Signaling. PLoS One.2017 Jan 19;12(1):e0170282. doi: 10.1371/journal.pone.0170282.
  4. Cossée M, Faivre L, Philippe C, Hichri H, de Saint-Martin A, Laugel V,Bahi-Buisson N, Lemaitre JF, Leheup B, Delobel B, Demeer B, Poirier K, BiancalanaV, Pinoit JM, Julia S, Chelly J, Devys D, Mandel JL. ARX polyalanine expansionsare highly implicated in familial cases of mental retardation with infantileepilepsy and/or hand dystonia. Am J Med Genet A. 2011 Jan;155A(1):98-105. doi:10.1002/ajmg.a.33785.
  5. Guerrini R, Moro F, Kato M, Barkovich AJ, Shiihara T, McShane MA, Hurst J, LoiM, Tohyama J, Norci V, Hayasaka K, Kang UJ, Das S, Dobyns WB. Expansion of thefirst PolyA tract of ARX causes infantile spasms and status dystonicus.Neurology. 2007 Jul 31;69(5):427-33.
  6. Gécz J, Cloosterman D, Partington M. ARX: a gene for all seasons. Curr OpinGenet Dev. 2006 Jun;16(3):308-16.
  7. Itoh M, Takizawa Y, Hanai S, Okazaki S, Miyata R, Inoue T, Akashi T, HayashiM, Goto Y. Partial loss of pancreas endocrine and exocrine cells of humanARX-null mutation: consideration of pancreas differentiation. Differentiation.2010 Sep-Oct;80(2-3):118-22. doi: 10.1016/j.diff.2010.05.003.
  8. Kato M, Dobyns WB. X-linked lissencephaly with abnormal genitalia as atangential migration disorder causing intractable epilepsy: proposal for a newterm, "interneuronopathy". J Child Neurol. 2005 Apr;20(4):392-7.
  9. Lee K, Ireland K, Bleeze M, Shoubridge C. ARX polyalanine expansion mutations lead to migration impediment in the rostral cortex coupled with a developmentaldeficit of calbindin-positive cortical GABAergic interneurons. Neuroscience. 2017Aug 15;357:220-231. doi: 10.1016/j.neuroscience.2017.06.010.
  10. Marques I, Sá MJ, Soares G, Mota Mdo C, Pinheiro C, Aguiar L, Amado M, Soares C, Calado A, Dias P, Sousa AB, Fortuna AM, Santos R, Howell KB, Ryan MM, LeventerRJ, Sachdev R, Catford R, Friend K, Mattiske TR, Shoubridge C, Jorge P.Unraveling the pathogenesis of ARX polyalanine tract variants using a clinicaland molecular interfacing approach. Mol Genet Genomic Med. 2015 May;3(3):203-14. doi: 10.1002/mgg3.133.
  11. Nasrallah IM, Minarcik JC, Golden JA. A polyalanine tract expansion in Arxforms intranuclear inclusions and results in increased cell death. J Cell Biol.2004 Nov 8;167(3):411-6.
  12. Olivetti PR, Noebels JL. Interneuron, interrupted: molecular pathogenesis ofARX mutations and X-linked infantile spasms. Curr Opin Neurobiol. 2012Oct;22(5):859-65. doi: 10.1016/j.conb.2012.04.006.
  13. Partington MW, Turner G, Boyle J, Gécz J. Three new families with X-linkedmental retardation caused by the 428-451dup(24bp) mutation in ARX. Clin Genet.2004 Jul;66(1):39-45.
  14. Poirier K, Lacombe D, Gilbert-Dussardier B, Raynaud M, Desportes V, de BrouwerAP, Moraine C, Fryns JP, Ropers HH, Beldjord C, Chelly J, Bienvenu T. Screeningof ARX in mental retardation families: Consequences for the strategy of moleculardiagnosis. Neurogenetics. 2006 Mar;7(1):39-46.
  15. Sherr EH. The ARX story (epilepsy, mental retardation, autism, and cerebralmalformations): one gene leads to many phenotypes. Curr Opin Pediatr. 2003Dec;15(6):567-71. Review.
  16. Shoubridge C, Cloosterman D, Parkinson-Lawerence E, Brooks D, Gécz J.Molecular pathology of expanded polyalanine tract mutations in theAristaless-related homeobox gene. Genomics. 2007 Jul;90(1):59-71.
  17. Shoubridge C, Fullston T, Gécz J. ARX spectrum disorders: making inroads into the molecular pathology. Hum Mutat. 2010 Aug;31(8):889-900. doi:10.1002/humu.21288. Review.
  18. Shoubridge C, Tan MH, Seiboth G, Gécz J. ARX homeodomain mutations abolish DNAbinding and lead to a loss of transcriptional repression. Hum Mol Genet. 2012 Apr1;21(7):1639-47. doi: 10.1093/hmg/ddr601.
  19. Strømme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SM, Bruyere H, Lütcherath V, Gedeon AK, Wallace RH, Scheffer IE, Turner G, Partington M, Frints SG, FrynsJP, Sutherland GR, Mulley JC, Gécz J. Mutations in the human ortholog ofAristaless cause X-linked mental retardation and epilepsy. Nat Genet. 2002Apr;30(4):441-5.
  20. Suri M. The phenotypic spectrum of ARX mutations. Dev Med Child Neurol. 2005Feb;47(2):133-7. Review.
  21. Uyanik G, Aigner L, Martin P, Gross C, Neumann D, Marschner-Schäfer H, Hehr U,Winkler J. ARX mutations in X-linked lissencephaly with abnormal genitalia.Neurology. 2003 Jul 22;61(2):232-5.
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