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ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
Open accessAbstract
Investigation of a critical region for an X-linked mental retardation (XLMR) locus led us to identify a novel Aristaless related homeobox gene (ARX ). Inherited and de novo ARX mutations, including missense mutations and in frame duplications/insertions leading to expansions of polyalanine tracts in ARX, were found in nine familial and one sporadic case of MR. In contrast to other genes involved in XLMR, ARX expression is specific to the telencephalon and ventral thalamus. Notably there is an absence of expression in the cerebellum throughout development and also in adult. The absence of detectable brain malformations in patients suggests that ARX may have an essential role, in mature neurons, required for the development of cognitive abilities.
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Cited by
C ELL M IGRATION IN THE F OREBRAIN
Marín, O., & Rubenstein, J. L. R. (2003) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.26.041002.131058 · Cited by 915
Laumonnier, F., Bonnet-Brilhault, F., Gomot, M., Blanc, R., David, A., Moizard, M.-P., Raynaud, M., Ronce, N., Lemonnier, E., Calvas, P., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/382137 · Cited by 768
Weaving, L. S., Christodoulou, J., Williamson, S. L., Friend, K. L., McKenzie, O. L. D., Archer, H., Evans, J., Clarke, A., Pelka, G. J., Tam, P. P. L., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/426462 · Cited by 502
Weese‐Mayer, D. E., Berry‐Kravis, E. M., Zhou, L., Maher, B. S., Silvestri, J. M., Curran, M. E., & Marazita, M. L. (2003) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.20527 · Cited by 383
Jensen, L. R., Amende, M., Gurok, U., Moser, B., Gimmel, V., Tzschach, A., Janecke, A. R., Tariverdian, G., Chelly, J., Fryns, J.-P., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/427563 · Cited by 373
Metadata
- Authors
- Bienvenu, T.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2002-04-15
- Volume
- 11
- Issue
- 8
- Pages
- 981-991
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2161317138
- Cited by
- 290
- References
- 0
- FWCI
- 14.84
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. https://app.cochat.ai/papers/10.1093/hmg/11.8.981
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- Bienvenu, T. (2002). ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Human Molecular Genetics. https://doi.org/10.1093/hmg/11.8.981
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
