Mouse orthologue of ARX, a gene mutated in several X‐linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain …
Mutations in the human ARX gene show unusually heterogeneous clinical presentations,
including syndromic and nonsyndromic mental retardation, myoclonic epilepsy with …
including syndromic and nonsyndromic mental retardation, myoclonic epilepsy with …
Frameshift mutations of the ARX gene in familial Ohtahara syndrome
M Kato, N Koyama, M Ohta, K Miura, K Hayasaka - Epilepsia, 2010 - Wiley Online Library
Purpose: Ohtahara syndrome is one of the most severe and earliest forms of epilepsy and is
frequently associated with brain malformations, such as hemimegalencephaly. Recently …
frequently associated with brain malformations, such as hemimegalencephaly. Recently …
The ARX mutations: A frequent cause of X‐linked mental retardation
M Nawara, K Szczaluba, K Poirier… - American journal of …, 2006 - Wiley Online Library
The ARX gene mutations have been demonstrated to cause different forms of mental
retardation (MR). Beside FMR1, in families with X‐linked mental retardation (XLMR), the …
retardation (MR). Beside FMR1, in families with X‐linked mental retardation (XLMR), the …
The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes
EH Sherr - Current opinion in pediatrics, 2003 - journals.lww.com
Mutations in the homeobox gene, ARX, cause a diverse spectrum of disease that includes
cognitive impairment, epilepsy, and in another group of patients severe cortical …
cognitive impairment, epilepsy, and in another group of patients severe cortical …
Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms
Y Shinozaki, M Osawa, H Sakuma, H Komaki… - Brain and …, 2009 - Elsevier
Mutations in the Aristaless-related homeobox (ARX) gene are associated with pleiotropic
phenotypes including infantile spasms, mental retardation and dystonia. However, relatively …
phenotypes including infantile spasms, mental retardation and dystonia. However, relatively …
ARX: a gene for all seasons
J Gécz, D Cloosterman, M Partington - Current opinion in genetics & …, 2006 - Elsevier
The Aristaless-related homeobox gene, ARX, is an important transcription factor with a
crucial role in forebrain, pancreas and testes development. At least fifty-nine mutations have …
crucial role in forebrain, pancreas and testes development. At least fifty-nine mutations have …
Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of …
C Shoubridge, MH Tan, T Fullston, D Cloosterman… - Pathogenetics, 2010 - Springer
Background Aristaless related homeobox (ARX) is a paired-type homeobox gene. ARX
function is frequently affected by naturally occurring mutations. Nonsense mutations …
function is frequently affected by naturally occurring mutations. Nonsense mutations …
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
O Reish, T Fullston, M Regev… - American Journal of …, 2009 - Wiley Online Library
Abstract The Aristaless Related Homeobox (ARX) gene is a Q50 paired homeobox gene.
These genes are important regulators of essential events during vertebrate embryogenesis …
These genes are important regulators of essential events during vertebrate embryogenesis …
Developmental interneuron subtype deficits after targeted loss of Arx
ED Marsh, MLP Nasrallah, C Walsh, KA Murray… - BMC neuroscience, 2016 - Springer
Background Aristaless-related homeobox (ARX) is a paired-like homeodomain transcription
factor that functions primarily as a transcriptional repressor and has been implicated in …
factor that functions primarily as a transcriptional repressor and has been implicated in …
Three new families with X‐linked mental retardation caused by the 428–451dup(24bp) mutation in ARX
Three families with X‐linked mental retardation caused by a 24 base‐pair duplication in
ARX [428–451dup (24 bp)] are reported. The clinical features in these and six other …
ARX [428–451dup (24 bp)] are reported. The clinical features in these and six other …