Rett syndrome (RTT) is a severe neurological disorder caused by mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2). Almost two decades of research into RTT …
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by loss-of-function heterozygous mutations of methyl CpG-binding protein 2 (MECP2) on the X chromosome in …
Mutations in methyl CpG binding protein 2 (MeCP2) are the major cause of Rett syndrome (RTT), a rare neurodevelopmental disorder with a notable period of developmental …
N Vashi, MJ Justice - Mammalian Genome, 2019 - Springer
Rare diseases are very difficult to study mechanistically and to develop therapies for because of the scarcity of patients. Here, the rare neuro-metabolic disorder Rett syndrome …
PN Pallier, M Ferrara, F Romagnolo, MT Ferretti… - Progress in …, 2022 - Elsevier
Neurological and neuropsychiatric disorders affect men and women differently. Multiple sclerosis, Alzheimer's disease, anxiety disorders, depression, meningiomas and late-onset …
LLG Carrette, CY Wang, C Wei… - Proceedings of the …, 2018 - National Acad Sciences
The X-chromosome harbors hundreds of disease genes whose associated diseases predominantly affect males. However, a subset, including neurodevelopmental disorders …
M Wits, C Becher, F de Man… - Cardiovascular …, 2023 - academic.oup.com
Pulmonary arterial hypertension (PAH) is a rare cardiovascular disorder leading to pulmonary hypertension and, often fatal, right heart failure. Sex differences in PAH are …
L Carrel, CJ Brown - … Transactions of the Royal Society B …, 2017 - royalsocietypublishing.org
A tribute to Mary Lyon was held in October 2016. Many remarked about Lyon's foresight regarding many intricacies of the X-chromosome inactivation process. One such example is …
J Li, Z Ming, L Yang, T Wang, G Liu, Q Ma - Genes & Diseases, 2022 - Elsevier
Sexual dimorphism has been reported in various human diseases including autoimmune diseases, neurological diseases, pulmonary arterial hypertension, and some types of …