Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX.

@article{Blaschke2003TranscriptionalAT,
  title={Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX.},
  author={Rudiger J Blaschke and Christine T{\"o}pfer and Antonio Marchini and Herbert Steinbeisser and J. W. Janssen and Gudrun A Rappold},
  journal={The Journal of biological chemistry},
  year={2003},
  volume={278 48},
  pages={47820-6}
}
Regulation of gene expression is particularly important for gene dosage-dependent diseases and the phenomenon of clinical heterogeneity frequently associated with these phenotypes. We here report on the combined transcriptional and translational regulatory mechanisms controlling the expression of the Léri-Weill and Turner syndrome gene SHOX. We define an alternative promotor within exon 2 of the SHOX gene by transient transfections of mono- and bicistronic reporter constructs and demonstrate… CONTINUE READING

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