RETT/MECP2 Abstracts of Publication

1. Whole-genome sequencing reveals principles of brain retrotransposition in neurodevelopmental disorders.
2. Monogenic disorders that mimic the phenotype of Rett syndrome.
3. Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial.
4. Astrocytic modulation of excitatory synaptic signaling in a mouse model of Rett syndrome.
5. Motor, Somatosensory, Viscerosensory and Metabolic Impairments in a Heterozygous Female Rat Model of Rett Syndrome.
6. A mixed modality approach towards Xi reactivation for Rett syndrome and other X-linked disorders.
7. Touchscreen learning deficits in Ube3a, Ts65Dn and Mecp2 mouse models of neurodevelopment disorders with intellectual disabilities.
8. Dendrimer-mediated delivery of N-acetyl cysteine to microglia in a mouse model of Rett syndrome.
9. Mecp2 regulates tufa during zebrafish embryonic development and acute inflammation
10. Skin injuries and joint contractures of the upper extremities in Rett syndrome
11. Breathing disturbances in a model of Rett syndrome: a potential involvement of the glycine receptor alpha 3a subunit?
12. Trichostatin A decreases the levels of MeCP2 expression and phosphorylation of the glycine receptor alpha 3 subunit?
13. Association Study of MECP2 Gene Single Nucleotide Polymorphisms in Juvenile-Onset Systemic Lupus Erythematous Patients from Iran.
14. Adapting the Mullen Scales of Early Learning for a Standardized Measure of Development in Children with Rett Syndrome.
15. Lactonase Activity and Lipoprotein-Phosoholipase A2 as Possible Novel Serum Biomarkers for the Differential Diagnosis of Autism Spectrum Disorders and Rett Syndrome: Results from a Pilot Study.
16. MeCP2 Expression in a Rat Model of Risky Decision Making.
17. MeCP2 E1 N-terminal modifications affect its degradation rate and are disrupted by the Ala2Val Rett mutation.
18. miR-132 Down-Regulates methyl CpG Binding Protein 2 (MeCP2) During Cognitive Dysfunction Following Chronic Cerebral Hypoperfusion.
19. Biophysical characterization of the basic cluster in the transcription repression domain of human MeCP2 with AT-rich DNA.
20. Lower incidence of fracture after IV bisposphonafes girls Rett syndrome and servers bone fragility.
21. Disruption of AT-hook 1 domain in MeCP2 protein caused behavioral abnormality in mice.
22. RNA sequencing and proteomics approaches reveal novel deficits in the cortex of Mecp2-deficient mice, a model for Rett syndrome.
23. Site-directed RNA repair of endogenous Mecp2 in neurons.
24. The L1 adhesion molecule normalizes neuritogenesis in Rett syndrome-derived neural precursor cells.






Mäuse werden oft in der biomedizinischen Grundlagenforschung verwendet. Durch eine gezielte Deaktivierung eines Gens (Knockout) in den sogenannten Knockout-Mäusen, kann durch die Kreuzungszüchtung von congenen Linien die Funktion eines einzelnen Gens bzw. eines Genabschnitts sehr gut untersucht werden.






STOCK Mecp2tm1.1Jae/Mmcd



ES cell lines with the targeted mutations (T158M, R168X, R255X) are available from the laboratory of Egor Prokhortchouk.

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