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X inactivation and reactivation in X-linked diseases

Academic Article
Publication Date:
2016
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.
Iris type:
01.01 Articolo in rivista
Keywords:
MECP2; Neurological diseases; Rett syndrome; X inactivation; X-linked diseases
List of contributors:
D'Esposito, Maurizio; Vacca, Marcella; DELLA RAGIONE, Floriana
Authors of the University:
DELLA RAGIONE FLORIANA
VACCA MARCELLA
Handle:
https://iris.cnr.it/handle/20.500.14243/318563
Published in:
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
Journal
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URL

https://www.sciencedirect.com/science/article/pii/S1084952116300702?via%3Dihub
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