Associated Papers
Optimized clonal isolation and immortalization of Rett syndrome patient fibroblasts for in vitro modeling of MECP2 mutations.
Sarne V et al.
Scientific Reports, 2025
MECP2 Dysfunction in Rett Syndrome: Molecular Mechanisms, Multisystem Pathology, and Emerging Therapeutic Strategies.
Choi G et al.
International Journal of Molecular Sciences, 2025
Exploring human brain development and disease using assembloids.
Wu SR et al.
Neuron, 2025
Unraveling autophagic imbalances and therapeutic insights in Mecp2-deficient models.
Esposito A et al.
Embo Molecular Medicine, 2024
Early differential impact of MeCP2 mutations on functional networks in Rett syndrome patient-derived human cerebral organoids.
Osaki T et al.
Biorxiv : the Preprint Server for Biology, 2024
Comprehensive Transcriptomic Investigation of Rett Syndrome Reveals Increasing Complexity Trends from Induced Pluripotent Stem Cells to Neurons with Implications for Enriched Pathways.
Odabasi YC et al.
Acs Omega, 2023
Meta-Analysis Identifies BDNF and Novel Common Genes Differently Altered in Cross-Species Models of Rett Syndrome.
Haase F et al.
International Journal of Molecular Sciences, 2022
Label-free three-photon imaging of intact human cerebral organoids for tracking early events in brain development and deficits in Rett syndrome.
Yildirim M et al.
Elife, 2022
TAT-MeCP2 protein variants rescue disease phenotypes in human and mouse models of Rett syndrome.
Steinkellner H et al.
International Journal of Biological Macromolecules, 2022
Identification of neural oscillations and epileptiform changes in human brain organoids.
Samarasinghe RA et al.
Nature Neuroscience, 2021
WGCNA Identifies Translational and Proteasome-Ubiquitin Dysfunction in Rett Syndrome.
Haase F et al.
International Journal of Molecular Sciences, 2021
MeCP2 controls neural stem cell fate specification through miR-199a-mediated inhibition of BMP-Smad signaling.
Nakashima H et al.
Cell Reports, 2021
Modeling Rett Syndrome with Human Pluripotent Stem Cells: Mechanistic Outcomes and Future Clinical Perspectives.
Gomes AR et al.
International Journal of Molecular Sciences, 2021
Pre-clinical Investigation of Rett Syndrome Using Human Stem Cell-Based Disease Models.
Haase FD et al.
Frontiers in Neuroscience, 2021
MECP2 mutations affect ciliogenesis: a novel perspective for Rett syndrome and related disorders.
Frasca A et al.
Embo Molecular Medicine, 2020
Loss of MECP2 Leads to Activation of P53 and Neuronal Senescence.
Ohashi M et al.
Stem Cell Reports, 2018
MeCP2-regulated miRNAs control early human neurogenesis through differential effects on ERK and AKT signaling.
Mellios N et al.
Molecular Psychiatry, 2018
Isogenic pairs of wild type and mutant induced pluripotent stem cell (iPSC) lines from Rett syndrome patients as in vitro disease model.
Ananiev G et al.
Plos One, 2011
The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis.
Forlani G et al.
Human Molecular Genetics, 2010
[Methyl-CpG-binding protein 2 gene and CDKL5 gene mutation in patients with Rett syndrome: analysis of 177 Chinese pediatric patients].
Li MR et al.
Zhonghua Yi Xue Za Zhi, 2009
Rett syndrome and long-term disorder profile.
Smeets EE et al.
American Journal of Medical Genetics. Part A, 2009
[Correlation between MECP2 genotype and phenotype in Chinese patients with Rett syndrome].
Li MR et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009
MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.
Li MR et al.
Journal of Human Genetics, 2007
[MECP2 gene mutations in twenty-six cases with atypical Rett syndrome].
Li MR et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2006
[Clinical feature of Rett syndrome and MeCP2 genotype/phenotype correlation analysis].
Bao XH et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2004
Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations.
Traynor J et al.
Bmc Medical Genetics, 2002
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.
Buyse IM et al.
American Journal of Human Genetics, 2000