Results 121 to 130 of about 27,643 (268)
MECP2 mutations in males [PDF]
Journal of Medical Genetics, 2007 Rett syndrome (RS; MIM 312750) is a severe neurological disorder affecting exclusively females. Its prevalence is about 1 in 10 000 female births, and it is a prominent cause of profound mental handicap in women. RS is caused by mutations in the X-linked methyl CpG-binding protein 2 (MECP2) gene.
openaire +2 more sources
MeCP2 Dosage affects Cortical Organoid Physiology [PDF]
, 2018 An optimal level of methyl-CpG binding protein 2 (MeCP2) is necessary for normal neurodevelopment. Researchers have shown that loss of MeCP2 leads to Rett syndrome, characterized by impaired motor function, loss of language, and autistic features.
Chakoumakos, Madison Ann
core +1 more source
MECP2 impairs neuronal structure by regulating KIBRA
Neurobiology of Disease, 2016 Using a Drosophila model of MECP2 gain-of-function, we identified memory associated KIBRA as a target of MECP2 in regulating dendritic growth. We found that expression of human MECP2 increased kibra expression in Drosophila, and targeted RNAi knockdown ...
Alison A. Williams +5 more
doaj +1 more source
Genetic Etiologies of Dystonia with Anarthria/Aphonia
Movement Disorders Clinical Practice, EarlyView.Abstract Background Dystonia with anarthria and/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management. Objectives To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing ...
Anika Ménétrey +7 more
wiley +1 more source
Role of MeCP2 in Pain and its Regulation by miRNAs [PDF]
, 2016 Nerve injury induces chronic pain and dysregulation of microRNAs in the dorsal root ganglia (DRG). Several downregulated microRNAs are predicted to target methyl-CpG-binding protein 2 (MeCP2) transcript.
Manners, Melissa Taft
core
Neurobiology of Disease, 2011 Mutations in MECP2, encoding methyl CpG binding protein 2, cause the neurodevelopmental disorder Rett syndrome. MeCP2 is an abundant nuclear protein that binds to chromatin and modulates transcription in response to neuronal activity.
Malaika K. Singleton +6 more
doaj +1 more source
Epigenetic Regulation of Liver Fibrosis: Mechanisms and Therapeutic Implications
Portal Hypertension &Cirrhosis, EarlyView.This review synthesizes the epigenetic mechanisms—DNA methylation, histone modifications, and non‐coding RNAs—that drive hepatic stellate cell activation and the progression of liver fibrosis. It further evaluates emerging therapeutic strategies targeting these epigenetic regulators, including DNA methyltransferase and histone deacetylase inhibitors ...
Maryam Jadid Tavaf +8 more
wiley +1 more source
Phytotherapy Research, EarlyView.ABSTRACT Vascular dementia (VaD), accounting for up to 20% of dementia cases globally, is primarily driven by chronic cerebral hypoperfusion (CCH), which leads to progressive cognitive impairment. Despite the increasing prevalence of VaD, effective treatments remain limited.
Jung‐Hoon Kim, Yongtaek Oh, Suin Cho
wiley +1 more source
MeCP2 represses the rate of transcriptional initiation of highly methylated long genes
Molecules and Cells, 2019 SUMMARY Mutations in the methyl-DNA-binding repressor protein MeCP2 cause the devastating neurodevelopmental disorder Rett syndrome. It has been challenging to understand how MeCP2 regulates transcription because MeCP2 binds broadly across the genome ...
Lisa D. Boxer +11 more
semanticscholar +1 more source
Neuronal non-CG methylation is an essential target for MeCP2 function
bioRxiv, 2020 DNA methylation is implicated in neuronal biology via the protein MeCP2, mutation of which causes Rett syndrome. MeCP2 recruits the NCOR1/2 corepressor complexes to methylated cytosine in the CG dinucleotide, but also to non-CG methylation, which is ...
R. Tillotson +13 more
semanticscholar +1 more source