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  ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.

Bienvenu, T., Poirier, K., Friocourt, G., Bahi, N., Beaumont, D., Fauchereau, F., et al. (2002). ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Human Molecular Genetics, 11(8), 981-991.

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 Creators:
Bienvenu, Thierry, Author
Poirier, Karine, Author
Friocourt, Gaelle, Author
Bahi, Nadia, Author
Beaumont, Delphine, Author
Fauchereau, Fabien, Author
Jeema, Lamia Ben, Author
Zemni, Ramzi, Author
Vinet, Marie-Claude, Author
Francis, Fiona, Author
Couvert, Philippe, Author
Gomot, Marie, Author
Moraine, Claude, Author
Bokhoven, Hans van, Author
Kalscheuer, Vera1, Author           
Frints, Suzanne, Author
Gecz, Josef, Author
Ohzaki, Kanae, Author
Chaabouni, Habiba, Author
Fryns, Jean-Pierre, Author
Desportes, Vincent, AuthorBeldjord, Cherif, AuthorChelly, Jamel, Author more..
Affiliations:
1Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              

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 Abstract: 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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Language(s): eng - English
 Dates: 2002-04
 Publication Status: Published in print
 Pages: -
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 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 24040
 Degree: -

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Title: Human Molecular Genetics
Source Genre: Journal
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Pages: - Volume / Issue: 11 (8) Sequence Number: - Start / End Page: 981 - 991 Identifier: -