Homeobox protein ARX
Definition:
References:
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[1]. Petter Strømme, et al. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet. 2002 Apr;30(4):441-5. [Content Brief]
[2]. Mitsuhiro Kato, et al. Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat. 2004 Feb;23(2):147-159. [Content Brief]
[3]. Cheryl Shoubridge, et al. ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression. Hum Mol Genet. 2012 Apr 1;21(7):1639-47. [Content Brief]
[4]. Kunio Kitamura, 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 Nov;32(3):359-69. [Content Brief]
[5]. Loredana Poeta, et al. Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders. Hum Mol Genet. 2019 Dec 15;28(24):4089-4102. [Content Brief]