• Biology, Medicine
  • Published in Frontiers in bioscience 2010
  • DOI:10.2741/e130

The aristaless (Arx) gene: one gene for many "interneuronopathies".

@article{Ruggieri2010TheA,
  title={The aristaless (Arx) gene: one gene for many "interneuronopathies".},
  author={Martino Ruggieri and Piero Pavone and Giovanni Scapagnini and Loriana Romeo and Ilaria Lombardo and Giovanni Li Volti and Giovanni Corsello and Lorenzo Pavone},
  journal={Frontiers in bioscience},
  year={2010},
  volume={2},
  pages={
          701-10
        }
}
The ARX (Aristaless-related (X-linked) homeobox) gene is not only present in arthropods and their ancestors, but also in vertebrates including humans (ARX orthologs). The gene is composed of 5 coding exons and it is expressed predominantly in foetal and adult brain and skeletal muscle. In this review we report on our experience and review the existing literature on the genotype and phenotype heterogeneity associated with ARX abnormalities in humans ranging from severe neuronal migration defects… CONTINUE READING

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References

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SHOWING 1-10 OF 55 REFERENCES

ARX: a gene for all seasons.

  • Current opinion in genetics & development
  • 2006
VIEW 3 EXCERPTS
HIGHLY INFLUENTIAL

Clinical study of two brothers with a novel 33 bp duplication in the ARX gene

T. Fullston MK. Demos, MW. Partington, J. Gécz, WT. Gibson
  • Am J Med Genet A
  • 2009

Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms

M. Osawa, H. Sakuma, +4 authors Y. Goto
  • Brain Dev
  • 2009

Golden : Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females

C. Fulp, E. Gomez, +8 authors JA.
  • Brain
  • 2009