ArticlePloS one2011
High-throughput analysis of promoter occupancy reveals new targets for Arx, a gene mutated in mental retardation and interneuronopathies.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 2 of them syntheses that pooled it.
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Who cites it
26 citing papers in PubMed, 2 syntheses or guidelines pooled it, 36 citations in OpenAlex.
- A common gene signature across multiple studies relate biomarkers and functional regulation in tolerance to renal allograft.Kidney international · 2015Pooled it
- Transcriptional assessment by microarray analysis and large-scale meta-analysis of the metabolic capacity of cardiac and skeletal muscle tissues to cope with reduced nutrient availability in Gilthead Sea Bream (Sparus aurata L.).Marine biotechnology (New York, N.Y.) · 2014Pooled it
- Cellular Functional Analyses ofHuman mutation · 2026Article
- Cannabidiol attenuates epileptic phenotype and increases survival in a mouse model of developmental and epileptic encephalopathy type 1.Epilepsia · 2025Article
- Generation of FLAG-tagged Arx knock-in mouse model.Genesis (New York, N.Y. : 2000) · 2022Article
- Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy.Human molecular genetics · 2022Article
- Further Delineation of Duplications ofInternational journal of molecular sciences · 2022Review
- Flying under the radar: CDH2 (N-cadherin), an important hub molecule in neurodevelopmental and neurodegenerative diseases.Frontiers in neuroscience · 2022Review
- Genetic Regulation of Vertebrate Forebrain Development by Homeobox Genes.Frontiers in neuroscience · 2022Review
- Article
- Arx Expression Suppresses Ventralization of the Developing Dorsal Forebrain.Scientific reports · 2019Article
- Lipid malabsorption from altered hormonal signaling changes early gut microbial responses.American journal of physiology. Gastrointestinal and liver physiology · 2018Article
- A new mouse model of ARX dup24 recapitulates the patients' behavioral and fine motor alterations.Human molecular genetics · 2018Article
- Narrowing the Genetic Causes of Language Dysfunction in the 1q21.1 Microduplication Syndrome.Frontiers in pediatrics · 2018Article
- Calretinin interneuron density in the caudate nucleus is lower in autism spectrum disorder.Brain : a journal of neurology · 2017Article
- Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.American journal of human genetics · 2017Article
- Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene.Human genetics · 2015Article
- ARX regulates cortical intermediate progenitor cell expansion and upper layer neuron formation through repression of Cdkn1c.Cerebral cortex (New York, N.Y. : 1991) · 2015Article
- Possible functional links among brain- and skull-related genes selected in modern humans.Frontiers in psychology · 2015Article
- Arx together with FoxA2, regulates Shh floor plate expression.Developmental biology · 2014Article
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic investigations of X-linked intellectual disabilities have implicated the ARX (Aristaless-related homeobox) gene in a wide spectrum of disorders extending from phenotypes characterised by severe neuronal migration defects such as lissencephaly, to mild or moderate forms of mental retardation without apparent brain abnormalities but with associated features of dystonia and epilepsy. Analysis of Arx spatio-temporal localisation profile in mouse revealed expression in telencephalic structures, mainly restricted to populations of GABAergic neurons at all stages of development. Furthermore, studies of the effects of ARX loss of function in humans and animal models revealed varying defects, suggesting multiple roles of this gene during brain development. However, to date, little is known about how ARX functions as a transcription factor and the nature of its targets. To better understand its role, we combined chromatin immunoprecipitation and mRNA expression with microarray analysis and identified a total of 1006 gene promoters bound by Arx in transfected neuroblastoma (N2a) cells and in mouse embryonic brain. Approximately 24% of Arx-bound genes were found to show expression changes following Arx overexpression or knock-down. Several of the Arx target genes we identified are known to be important for a variety of functions in brain development and some of them suggest new functions for Arx. Overall, these results identified multiple new candidate targets for Arx and should help to better understand the pathophysiological mechanisms of intellectual disability and epilepsy associated with ARX mutations.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.