TY - JOUR
T1 - X inactivation and reactivation in X-linked diseases
AU - Vacca, Marcella
AU - Della Ragione, Floriana
AU - Scalabrì, Francesco
AU - D'Esposito, Maurizio
PY - 2016/1/5
Y1 - 2016/1/5
N2 - 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.
AB - 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.
KW - MECP2
KW - Neurological diseases
KW - Rett syndrome
KW - X inactivation
KW - X-linked diseases
UR - http://www.scopus.com/inward/record.url?scp=84961839491&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84961839491&partnerID=8YFLogxK
U2 - 10.1016/j.semcdb.2016.03.009
DO - 10.1016/j.semcdb.2016.03.009
M3 - Article
AN - SCOPUS:84961839491
JO - Seminars in Cell and Developmental Biology
JF - Seminars in Cell and Developmental Biology
SN - 1084-9521
ER -