title: X inactivation and reactivation in X-linked diseases.
abstract: 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.
authors.affiliation: Institute of Genetics and Biophysics "A. Buzzati Traverso", CNR, via Pietro Castellino, 111, 80131, Naples, Italy. Electronic address: marcella.vacca@igb.cnr.it.
authors.forename: Marcella
authors.initials: M
authors.lastname: Vacca
authors.affiliation: Institute of Genetics and Biophysics "A. Buzzati Traverso", CNR, via Pietro Castellino, 111, 80131, Naples, Italy; IRCCS Neuromed, Pozzilli, Isernia, Italy.
authors.forename: Floriana
authors.initials: F
authors.lastname: Della Ragione
authors.affiliation: IRCCS Neuromed, Pozzilli, Isernia, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Scalabrì
authors.affiliation: Institute of Genetics and Biophysics "A. Buzzati Traverso", CNR, via Pietro Castellino, 111, 80131, Naples, Italy; IRCCS Neuromed, Pozzilli, Isernia, Italy.
authors.forename: Maurizio
authors.initials: M
authors.lastname: D'Esposito
mesh_terms: D000818:Animals; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D015518:Rett Syndrome / Q000235:genetics; D049951:X Chromosome Inactivation / Q000235:genetics*
keywords: MECP2; Neurological diseases; Rett syndrome; X inactivation; X-linked diseases