Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice
K Kitamura, Y Itou, M Yanazawa… - Human molecular …, 2009 - academic.oup.com
ARX (the aristaless-related homeobox gene) is a transcription factor that participates in the
development of GABAergic and cholinergic neurons in the forebrain. Many ARX mutations …
development of GABAergic and cholinergic neurons in the forebrain. Many ARX mutations …
Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females
Mutations in the X-linked aristaless-related homeobox gene (ARX) have been linked to
structural brain anomalies as well as multiple neurocognitive deficits. The generation of Arx …
structural brain anomalies as well as multiple neurocognitive deficits. The generation of Arx …
Conditional Loss of Arx From the Developing Dorsal Telencephalon Results in Behavioral Phenotypes Resembling Mild Human ARX Mutations
JC Simonet, CN Sunnen, J Wu, JA Golden… - Cerebral …, 2015 - academic.oup.com
Abstract Mutations in the Aristaless-Related Homeobox (ARX) gene cause structural
anomalies of the brain, epilepsy, and neurocognitive deficits in children. During forebrain …
anomalies of the brain, epilepsy, and neurocognitive deficits in children. During forebrain …
X-linked mental retardation and epilepsy: pathogenetic significance of ARX mutations
S Hirose, A Mitsudome - Brain and Development, 2003 - Elsevier
Mental retardation (MR) and epilepsy are both heterogeneous syndromes based on
dysfunction in the brain and they are often closely associated. Hence, there should be some …
dysfunction in the brain and they are often closely associated. Hence, there should be some …
ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression
C Shoubridge, MH Tan, G Seiboth… - Human molecular …, 2012 - academic.oup.com
Mutations in the Aristaless-related homeobox (ARX) gene are one of the most frequent
causes of X-linked intellectual disability (ID). Several missense mutations, clustered in the …
causes of X-linked intellectual disability (ID). Several missense mutations, clustered in the …
A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and …
YZ Ekşioğlu, AW Pong, M Takeoka - Epilepsia, 2011 - Wiley Online Library
Purpose: ARX, the aristaless‐related homeobox gene, is implicated in cerebral, testicular,
and pancreatic development. ARX mutations are associated with various forms of epilepsy …
and pancreatic development. ARX mutations are associated with various forms of epilepsy …
[HTML][HTML] High-Throughput Analysis of Promoter Occupancy Reveals New Targets for Arx, a Gene Mutated in Mental Retardation and Interneuronopathies
ML Quille, S Carat, S Quéméner-Redon, E Hirchaud… - PloS one, 2011 - journals.plos.org
Genetic investigations of X-linked intellectual disabilities have implicated the ARX
(Aristaless-related homeobox) gene in a wide spectrum of disorders extending from …
(Aristaless-related homeobox) gene in a wide spectrum of disorders extending from …
[HTML][HTML] Ohtahara syndrome in a family with an ARX protein truncation mutation (c. 81C> G/p. Y27X)
T Fullston, L Brueton, T Willis, S Philip… - European journal of …, 2010 - nature.com
Aristaless-related homeobox (ARX) gene mutations cause a diverse spectrum of disorders
of the human brain, including lissencephaly, various forms of epilepsy and non-syndromic …
of the human brain, including lissencephaly, various forms of epilepsy and non-syndromic …
Identification of Arx transcriptional targets in the developing basal forebrain
CT Fulp, G Cho, ED Marsh, IM Nasrallah… - Human molecular …, 2008 - academic.oup.com
Mutations in the aristaless-related homeobox (ARX) gene are associated with multiple
neurologic disorders in humans. Studies in mice indicate Arx plays a role in neuronal …
neurologic disorders in humans. Studies in mice indicate Arx plays a role in neuronal …
[HTML][HTML] Mutations in ARX result in several defects involving GABAergic neurons
G Friocourt, JG Parnavelas - Frontiers in cellular neuroscience, 2010 - frontiersin.org
Genetic investigations of X-linked mental retardation have demonstrated the implication of
ARX in a wide spectrum of disorders extending from phenotypes with severe neuronal …
ARX in a wide spectrum of disorders extending from phenotypes with severe neuronal …