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X inactivation and reactivation in X-linked diseases. | LitMetric
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X inactivation and reactivation in X-linked diseases.

Marcella Vacca Floriana Della Ragione Francesco Scalabrì Maurizio D'Esposito

Semin Cell Dev Biol

Institute of Genetics and Biophysics "A. Buzzati Traverso", CNR, via Pietro Castellino, 111, 80131, Naples, Italy; IRCCS Neuromed, Pozzilli, Isernia, Italy.

Published: August 2016

X chromosome inactivation (XCI) is the phenomenon by which mammals compensate for dosage of X-linked genes in females (XX) versus males (XY). XCI patterns can be random or show extreme skewing, and can modify the mode of inheritance of X-driven phenotypes, which contributes to the variability of human pathologies. Recent findings have shown reversibility of the XCI process, which has opened new avenues in the approaches used for the treatment of X-linked diseases.

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http://dx.doi.org/10.1016/j.semcdb.2016.03.009DOI Listing

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