MECP2 (methyl CpG binding protein 2) is a gene that encodes the protein MECP2. MECP2 appears to be essential for the normal function of nerve cells. The...

condition is variable. Rett syndrome is due to a genetic mutation in the MECP2 gene, on the X chromosome. It almost always occurs as a new mutation, with...

MECP2 duplication syndrome (M2DS) is a rare disease that is characterized by severe intellectual disability and impaired motor function. It is an X-linked...

The genetic defect of the transcriptional regulator MECP2 is responsible for Rett syndrome. A MECP2 deficiency has been associated to catecholaminergic...

"Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome". Annals of Neurology. 66 (6): 771–782. doi:10.1002/ana...

1999, a postdoctoral researcher in Zoghbi's lab identified MECP2 as the causative gene. The MECP2 protein binds methylated cytosine (5-methylcytosine) in...

for unmethylated DNA. In vitro foot-printing with the chromosomal protein MeCP2 showed that the MBD could protect a 12 nucleotide region surrounding a methyl...

Ketamine, as well as the epigenetic regulation of synaptic transmission by MeCP2. Monteggia pursued her undergraduate education at the University of Illinois...

gene. However, mutations have also been found in FMR1, FLNA, UPF3B, CASK, MECP2 and ATRX genes. Mutations on these different genes lead to the different...

epigenetic markers. Methyl-CpG-binding protein 2 (MeCP2) is a protein that binds to methylated DNA. MeCP2 has been found to associate most strongly with...

Associated genes Sex Study1 Origin Note X chromosome Xq28 Speculative MAGEA11 MECP2 IRAK1 male only Hamer et al. 1993 Sanders et al. 2015 genetic Chromosome...

Associated genes Sex Study1 Origin Note X chromosome Xq28 Speculative MAGEA11 MECP2 IRAK1 male only Hamer et al. 1993 Sanders et al. 2015 genetic Chromosome...

to hmC appears to disrupt the binding of 5mC-binding proteins including MECP2 and MBD (Methyl-CpG-binding domain) proteins, facilitating nucleosome remodeling...

AL, Zhou Z, Zoghbi HY, Botas J (September 2008). "Genetic modifiers of MeCP2 function in Drosophila". PLOS Genetics. 4 (9): e1000179. doi:10.1371/journal...

of UBE3A and GABRB3 is observed in MeCP2 deficient mice and ASD patients. This effect seems to happen without MeCP2 directly binding to the promoters of...

syndrome Down syndrome Fetal valproate spectrum disorder Fragile X syndrome MECP2 duplication syndrome Neurofibromatosis type I Noonan syndrome Multiple hamartoma...

DHDDS, BEST1, LRAT, SPARA7, CRX dominant or recessive 1:4,000 Rett syndrome MECP2 dominant, often de novo 1:8,500 females Roberts syndrome ESCO2 recessive...

2005). "Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3". Human Molecular...

leads to the phosphorylation of MeCP2, which results in a decrease in the binding of MeCP2 to BDNF promoter IV. Because MeCP2 can no longer bind to the BDNF...

research has focused on CpG islands and their associated binding-factor MeCP2. He led the team which first identified CpG islands—originally named "HpaII...

United States Myanmar Eye Care Project, a not-for-profit organisation MECP2, a gene MECP2 duplication syndrome, a rare disease linked to the gene Methylcyclopentadiene...

Zoghbi demonstrates that Rett syndrome is caused by mutations in the gene MECP2. January 19 – The first BlackBerry is released, using the same hardware...

presentation. These include: Coffin–Lowry syndrome DDX3X syndrome MASA syndrome MECP2 duplication syndrome Mental retardation and microcephaly with pontine and...

Benjamin D. (2020-11-10). "A small-molecule screen reveals novel modulators of MeCP2 and X-chromosome inactivation maintenance". Journal of Neurodevelopmental...

through interaction with methyl binding domain (MBD) proteins, such as MeCP2, MBD1 and MBD2. These MBD proteins bind most strongly to highly methylated...

; Wassink-Ruiter, Jolien S. Klein (August 2016). "Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual...

ENSG00000085276 C2H2 ZF Known motif – In vivo/Misc source [515] WGAYAAGATAANAND MECP2 ENSG00000169057 MBD; AT hook Known motif – from protein with 100% identical...

syndrome Down syndrome Fetal valproate spectrum disorder Fragile X syndrome MECP2 duplication syndrome Neurofibromatosis type I Noonan syndrome Multiple hamartoma...

MeCP2 because of the challenges in delivering the correct MeCP2 dosage only to neurons that lack it, given that the slightest perturbation in MeCP2 level...

Thinking Overlaps with Idiopathic Generalized Epilepsies none Eating Unknown MECP2 Hot water Autosomal dominant 10q21.3–q22.3 4q24–q28 Synapsin 1 GPR56 Reading...