Results 11 to 20 of about 27,643 (268)
MECP2-Related Disorders in Males [PDF]
International Journal of Molecular Sciences, 2021 Methyl CpG binding protein 2 (MECP2) is located at Xq28 and is a multifunctional gene with ubiquitous expression. Loss-of-function mutations in MECP2 are associated with Rett syndrome (RTT), which is a well-characterized disorder that affects mainly ...
Ainhoa Pascual-Alonso +3 more
semanticscholar +5 more sources
Rett Syndrome and MECP2 Duplication Syndrome: Disorders of MeCP2 Dosage
Neuropsychiatric Disease and Treatment, 2022 Rett syndrome (RTT) is a neurodevelopmental disorder caused predominantly by loss-of-function mutations in the gene Methyl-CpG-binding protein 2 (MECP2), which encodes the MeCP2 protein.
B. Collins, J. Neul
semanticscholar +6 more sources
Generation and characterization of rat and mouse monoclonal antibodies specific for MeCP2 and their use in X-inactivation studies. [PDF]
PLoS ONE, 2011 Methyl CpG binding protein 2 (MeCP2) binds DNA, and has a preference for methylated CpGs and, hence, in cells, it accumulates in heterochromatin. Even though it is expressed ubiquitously MeCP2 is particularly important during neuronal maturation. This is
K Laurence Jost +12 more
doaj +3 more sources
A brain-derived MeCP2 complex supports a role for MeCP2 in RNA processing [PDF]
Bioscience Reports, 2011 Mutations in MECP2 (methyl-CpG-binding protein 2) are linked to the severe postnatal neurodevelopmental disorder RTT (Rett syndrome). MeCP2 was originally characterized as a transcriptional repressor that preferentially bound methylated DNA; however ...
Peter L. Jones +3 more
core +4 more sources
MECP2 and the biology of MECP2 duplication syndrome [PDF]
Journal of Neurochemistry, 2021 MECP2 duplication syndrome (MDS), a rare X‐linked genomic disorder affecting predominantly males, is caused by duplication of the chromosomal region containing the methyl CpG binding protein‐2 (MECP2) gene, which encodes methyl‐CpG‐binding protein 2 ...
S. D'Mello
semanticscholar +3 more sources
Scientific Reports, 2021 Motor skill deficit is a common and invalidating symptom of Rett syndrome (RTT), a rare disease almost exclusively affecting girls during the first/second year of life.
Claudia Villani +4 more
doaj +2 more sources
MeCP2 and Chromatin Compartmentalization [PDF]
Cells, 2020 Methyl-CpG binding protein 2 (MeCP2) is a multifunctional epigenetic reader playing a role in transcriptional regulation and chromatin structure, which was linked to Rett syndrome in humans.
Zhang, Hui +2 more
core +6 more sources
Mecp2 regulates tnfa during zebrafish embryonic development and acute inflammation
Disease Models & Mechanisms, 2017 Mutations in MECP2 cause Rett syndrome, a severe neurological disorder with autism-like features. Duplication of MECP2 also causes severe neuropathology.
M. van der Vaart +8 more
doaj +2 more sources
, 2008 This animation shows how the protein MECP2, in conjuction with another protein complex, can act as an "on-off' switch for gene expression.
Howard Hughes Medical Institute (HHMI)
core +2 more sources
PLoS ONE, 2014 MeCP2 is a critical epigenetic regulator in brain and its abnormal expression or compromised function leads to a spectrum of neurological disorders including Rett Syndrome and autism.
Carl O Olson +4 more
doaj +2 more sources