Results 121 to 130 of about 33,901 (278)

Macrophage‐targeted delivery of siRNA to silence Mecp2 gene expression attenuates pulmonary fibrosis

, 2021
Yong Mou, Guorao Wu, Qi Wang, Ting Pan, Lei Zhang, Yongjian Xu, Weining Xiong, Qing Zhou, Yi Wang   +8 more
openalex   +1 more source

Reliability of Actigraphy for the Assessment of Sleep and Circadian Rhythms in Rett and Related Syndromes

Journal of Intellectual Disability Research, Volume 70, Issue 3, Page 262-273, March 2026.
ABSTRACT Purpose Actigraphy is being increasingly used to assess sleep and circadian rhythms among populations with intellectual and developmental disabilities and genetic syndromes, including Rett syndrome and related disorders, but the reliability of these measures in these populations is unclear.
Breanne Byiers, Alyssa Merbler, Elijah Lockhart, Chantel Burkitt, Frank Symons   +4 more
wiley   +1 more source

Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation

Molecular Autism, 2017
Background Methyl-CpG-binding protein-2 (MeCP2) is a critical regulator for neural development. Either loss- or gain-of-function leads to severe neurodevelopmental disorders, such as Rett syndrome (RTT) and autism spectrum disorder (ASD).
Zhu Wen, Tian-Lin Cheng, Gai-zhi Li, Shi-Bang Sun, Shun-Ying Yu, Yi Zhang, Ya-Song Du, Zilong Qiu   +7 more
doaj   +1 more source

LEDGF interacts with the NID domain of MeCP2 and modulates MeCP2 condensates

Structure
Methyl-CpG-binding protein 2 (MeCP2) is a ubiquitously expressed nuclear protein involved in transcriptional regulation and chromatin remodeling. MeCP2 exists in two isoforms, MeCP2 E1 and E2, which share the same functional domains. Loss-of-function mutations in the MeCP2 gene are the main cause of Rett syndrome (RTT).
Lesire, Saskia, Lata, Rodrigo, Hoogvliets, Yannick, Herrebosch, Kune, van de Velde, Paulien, Speleers, Anouk, Christ, Frauke, Van Belle, Siska, Debyser, Zeger   +8 more
openaire   +2 more sources

Supplementary Figure 1 from Epigenetic Regulation by Z-DNA Silencer Function Controls Cancer-Associated ADAM-12 Expression in Breast Cancer: Cross-talk between MeCP2 and NF1 Transcription Factor Family

, 2023
Bimal K. Ray, Srijita Dhar, Carolyn J. Henry, Alexander Rich, Alpana Ray   +4 more
openalex   +1 more source

MeCP2 binds to methylated DNA independently of phase separation and heterochromatin organisation

Nature Communications
Correlative evidence has suggested that the methyl-CpG-binding protein MeCP2 contributes to the formation of heterochromatin condensates via liquid-liquid phase separation.
Raphaël Pantier, Megan Brown, Sicheng Han, Katie Paton, Stephen Meek, Thomas Montavon, Nicholas Shukeir, Toni McHugh, David A. Kelly, Tino Hochepied, Claude Libert, Thomas Jenuwein, Tom Burdon, Adrian Bird   +13 more
doaj   +1 more source

Expression Pattern of the Rett Syndrome Gene MeCP2 in Primate Prefrontal Cortex

Neurobiology of Disease, 2001
Dysfunction of the prefrontal cortex may contribute to the autistic features and mental retardation of Rett syndrome, a neuropsychiatric condition caused by mutations of the gene encoding methyl-CpG-binding protein 2 (MeCP2).
Schahram Akbarian, Richard Z Chen, Joost Gribnau, Theodore P Rasmussen, Hiu-fai Fong, Rudolf Jaenisch, Edward G Jones   +6 more
doaj   +1 more source

CDKL5 is a brain MeCP2 target gene regulated by DNA methylation

Neurobiology of Disease, 2010
Rett syndrome and its “early-onset seizure” variant are severe neurodevelopmental disorders associated with mutations within the MECP2 and the CDKL5 genes.
Delphine Carouge, Lionel Host, Dominique Aunis, Jean Zwiller, Patrick Anglard   +4 more
doaj   +1 more source

Circadian cycle-dependent MeCP2 and brain chromatin changes

, 2017
Methyl CpG binding protein 2 (MeCP2) is a chromosomal protein of the brain, very abundant especially in neurons, where it plays an important role in the regulation of gene expression.
Ausió, Juan, Esteller, Manel, Huertas, Dori, Martínez de Paz, Alexia, Petazzi, Paolo, Samitier Martí, Mireia, Szczesna, Karolina, Sáez, Mauricio, Vicente Sanchez Mut, Jose   +8 more
core   +1 more source

Rett Syndrome [PDF]

, 2009
Rett syndrome is a thief! It robs little girls of their projected life. It lulls their families into a false sense of security while their little girls develop normally for 6 to 18 months.
Cox, Deborah Ann
core